Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
All (HP:0000001)

Parent Node:
Phenotypic abnormality (HP:0000118)

..Starting node
..Growth abnormality (HP:0001507)

Term ID:

1507

Name:

Growth abnormality

Synonym:

Abnormal growth; Growth abnormality; Growth issue

Definition:

Comments:

Reference:

HP:0001507

Genes and Diseases:

Child Nodes:

........

Abnormality of body height (HP:0000002)

................... HP:0000098 Tall stature
................... HP:0004322 Short stature
................... HP:0012772 Abnormal upper to lower segment ratio

........

Growth delay (HP:0001510)

................... HP:0000823 Delayed puberty
................... HP:0001511 Intrauterine growth retardation
................... HP:0004322 Short stature
................... HP:0008897 Postnatal growth retardation
................... HP:0031087 Absent pubertal growth spurt

........

Abnormality of body weight (HP:0004323)

................... HP:0004324 Increased body weight
................... HP:0004325 Decreased body weight
................... HP:0031818 Abnormal waist to hip ratio
................... HP:0045081 Abnormality of body mass index

........

Increased body fat percentage (HP:0025521)

........

Heterotaxy (HP:0030853)

................... HP:0011620 Abnormality of abdominal situs
................... HP:0031853 Isomerism

........

Asymmetric growth (HP:0100555)

................... HP:0001528 Hemihypertrophy
................... HP:0100556 Hemiatrophy
................... HP:0100559 Lower limb asymmetry
................... HP:0100560 Upper limb asymmetry

Sister Nodes:

Abnormal cellular phenotype (HP:0025354)

Abnormality of blood and blood-forming tissues (HP:0001871)

Abnormality of connective tissue (HP:0003549)

Abnormality of head or neck (HP:0000152)

Abnormality of limbs (HP:0040064)

Abnormality of metabolism/homeostasis (HP:0001939)

Abnormality of prenatal development or birth (HP:0001197)

Abnormality of the breast (HP:0000769)

Abnormality of the cardiovascular system (HP:0001626)

Abnormality of the digestive system (HP:0025031)

Abnormality of the ear (HP:0000598)

Abnormality of the endocrine system (HP:0000818)

Abnormality of the eye (HP:0000478)

Abnormality of the genitourinary system (HP:0000119)

Abnormality of the immune system (HP:0002715)

Abnormality of the integument (HP:0001574)

Abnormality of the musculature (HP:0003011)

Abnormality of the nervous system (HP:0000707)

Abnormality of the respiratory system (HP:0002086)

Abnormality of the skeletal system (HP:0000924)

Abnormality of the thoracic cavity (HP:0045027)

Abnormality of the voice (HP:0001608)

Constitutional symptom (HP:0025142)

Neoplasm (HP:0002664)

obsolete Abnormal test result (HP:0500014)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001507	HP:0001507	Growth abnormality	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001507	HP:0001507	Growth abnormality	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001507	HP:0001507	Growth abnormality	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0001507	HP:0001507	Growth abnormality	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040282 - Frequent		15
HP:0001507	HP:0001507	Growth abnormality	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0001507	HP:0001507	Growth abnormality	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0001507	HP:0001507	Growth abnormality	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0001507	HP:0001507	Growth abnormality	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0001507	HP:0001507	Growth abnormality	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0001507	HP:0001507	Growth abnormality	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0001507	HP:0001507	Growth abnormality	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001507	HP:0001507	Growth abnormality	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001507	HP:0001507	Growth abnormality	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0001507	HP:0001507	Growth abnormality	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0001507	HP:0001507	Growth abnormality	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0001507	HP:0001507	Growth abnormality	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001507	HP:0001507	Growth abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0001507	HP:0001507	Growth abnormality	0	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent			245
HP:0001507	HP:0001507	Growth abnormality	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0001507	HP:0001507	Growth abnormality	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0001507	HP:0001507	Growth abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0001507	HP:0001507	Growth abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0001507	HP:0001507	Growth abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0001507	HP:0001507	Growth abnormality	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001507	HP:0001507	Growth abnormality	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0001507	HP:0001507	Growth abnormality	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001507	HP:0001507	Growth abnormality	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001507	HP:0001507	Growth abnormality	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001507	HP:0001507	Growth abnormality	0	ACACA CL E G H	31	84	OMIM:613933	Acetyl-CoA carboxylase deficiency
HP:0001507	HP:0001507	Growth abnormality	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0001507	HP:0001507	Growth abnormality	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0001507	HP:0001507	Growth abnormality	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0001507	HP:0001507	Growth abnormality	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0001507	HP:0001507	Growth abnormality	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001507	HP:0001507	Growth abnormality	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.		34
HP:0001507	HP:0001507	Growth abnormality	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0001507	HP:0001507	Growth abnormality	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0001507	HP:0001507	Growth abnormality	0	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0001507	Growth abnormality	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0001507	Growth abnormality	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0001507	HP:0001507	Growth abnormality	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6			11
HP:0001507	HP:0001507	Growth abnormality	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0001507	HP:0001507	Growth abnormality	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0001507	HP:0001507	Growth abnormality	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0001507	HP:0001507	Growth abnormality	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001507	HP:0001507	Growth abnormality	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0001507	HP:0001507	Growth abnormality	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0001507	HP:0001507	Growth abnormality	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0001507	HP:0001507	Growth abnormality	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001507	HP:0001507	Growth abnormality	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001507	HP:0001507	Growth abnormality	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001507	HP:0001507	Growth abnormality	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001507	HP:0001507	Growth abnormality	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0001507	HP:0001507	Growth abnormality	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0001507	HP:0001507	Growth abnormality	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001507	HP:0001507	Growth abnormality	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0001507	HP:0001507	Growth abnormality	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0001507	HP:0001507	Growth abnormality	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0001507	HP:0001507	Growth abnormality	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0001507	HP:0001507	Growth abnormality	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0001507	HP:0001507	Growth abnormality	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0001507	HP:0001507	Growth abnormality	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0001507	Growth abnormality	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0001507	HP:0001507	Growth abnormality	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001507	HP:0001507	Growth abnormality	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency			75
HP:0001507	HP:0001507	Growth abnormality	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001507	HP:0001507	Growth abnormality	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001507	Growth abnormality	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4			214
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0001507	HP:0001507	Growth abnormality	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0001507	HP:0001507	Growth abnormality	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0001507	HP:0001507	Growth abnormality	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0001507	HP:0001507	Growth abnormality	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0001507	HP:0001507	Growth abnormality	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001507	HP:0001507	Growth abnormality	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0001507	HP:0001507	Growth abnormality	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0001507	HP:0001507	Growth abnormality	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001507	HP:0001507	Growth abnormality	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0001507	HP:0001507	Growth abnormality	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001507	HP:0001507	Growth abnormality	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001507	HP:0001507	Growth abnormality	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001507	HP:0001507	Growth abnormality	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001507	HP:0001507	Growth abnormality	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0001507	HP:0001507	Growth abnormality	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0001507	HP:0001507	Growth abnormality	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0001507	HP:0001507	Growth abnormality	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0001507	HP:0001507	Growth abnormality	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001507	HP:0001507	Growth abnormality	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001507	HP:0001507	Growth abnormality	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0001507	HP:0001507	Growth abnormality	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0001507	Growth abnormality	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0001507	HP:0001507	Growth abnormality	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0001507	HP:0001507	Growth abnormality	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0001507	HP:0001507	Growth abnormality	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001507	HP:0001507	Growth abnormality	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0001507	HP:0001507	Growth abnormality	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0001507	HP:0001507	Growth abnormality	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0001507	HP:0001507	Growth abnormality	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001507	HP:0001507	Growth abnormality	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0001507	HP:0001507	Growth abnormality	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0001507	HP:0001507	Growth abnormality	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0001507	HP:0001507	Growth abnormality	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001507	HP:0001507	Growth abnormality	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0001507	HP:0001507	Growth abnormality	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0001507	Growth abnormality	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0001507	HP:0001507	Growth abnormality	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0001507	HP:0001507	Growth abnormality	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0001507	HP:0001507	Growth abnormality	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0001507	HP:0001507	Growth abnormality	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0001507	HP:0001507	Growth abnormality	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1			95
HP:0001507	HP:0001507	Growth abnormality	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001507	HP:0001507	Growth abnormality	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0001507	HP:0001507	Growth abnormality	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0001507	HP:0001507	Growth abnormality	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0001507	HP:0001507	Growth abnormality	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0001507	HP:0001507	Growth abnormality	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0001507	HP:0001507	Growth abnormality	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0001507	HP:0001507	Growth abnormality	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0001507	HP:0001507	Growth abnormality	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0001507	HP:0001507	Growth abnormality	0	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0001507	HP:0001507	Growth abnormality	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0001507	HP:0001507	Growth abnormality	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0001507	HP:0001507	Growth abnormality	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001507	HP:0001507	Growth abnormality	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0001507	HP:0001507	Growth abnormality	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0001507	HP:0001507	Growth abnormality	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0001507	HP:0001507	Growth abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0001507	HP:0001507	Growth abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0001507	HP:0001507	Growth abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0001507	HP:0001507	Growth abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0001507	HP:0001507	Growth abnormality	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0001507	HP:0001507	Growth abnormality	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0001507	HP:0001507	Growth abnormality	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0001507	HP:0001507	Growth abnormality	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001507	HP:0001507	Growth abnormality	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0001507	HP:0001507	Growth abnormality	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0001507	HP:0001507	Growth abnormality	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001507	HP:0001507	Growth abnormality	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0001507	HP:0001507	Growth abnormality	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001507	HP:0001507	Growth abnormality	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0001507	Growth abnormality	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0001507	HP:0001507	Growth abnormality	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001507	HP:0001507	Growth abnormality	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0001507	HP:0001507	Growth abnormality	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0001507	HP:0001507	Growth abnormality	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001507	HP:0001507	Growth abnormality	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001507	HP:0001507	Growth abnormality	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001507	HP:0001507	Growth abnormality	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001507	HP:0001507	Growth abnormality	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001507	HP:0001507	Growth abnormality	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001507	HP:0001507	Growth abnormality	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0001507	HP:0001507	Growth abnormality	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0001507	HP:0001507	Growth abnormality	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0001507	HP:0001507	Growth abnormality	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0001507	HP:0001507	Growth abnormality	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0001507	HP:0001507	Growth abnormality	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0001507	HP:0001507	Growth abnormality	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood			126
HP:0001507	HP:0001507	Growth abnormality	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001507	HP:0001507	Growth abnormality	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001507	HP:0001507	Growth abnormality	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0001507	HP:0001507	Growth abnormality	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001507	HP:0001507	Growth abnormality	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0001507	HP:0001507	Growth abnormality	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0001507	HP:0001507	Growth abnormality	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0001507	HP:0001507	Growth abnormality	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001507	HP:0001507	Growth abnormality	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001507	HP:0001507	Growth abnormality	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001507	HP:0001507	Growth abnormality	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0001507	HP:0001507	Growth abnormality	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0001507	HP:0001507	Growth abnormality	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0001507	HP:0001507	Growth abnormality	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0001507	HP:0001507	Growth abnormality	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001507	HP:0001507	Growth abnormality	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001507	HP:0001507	Growth abnormality	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0001507	HP:0001507	Growth abnormality	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0001507	HP:0001507	Growth abnormality	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0001507	HP:0001507	Growth abnormality	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0001507	HP:0001507	Growth abnormality	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0001507	HP:0001507	Growth abnormality	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0001507	HP:0001507	Growth abnormality	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0001507	Growth abnormality	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0001507	Growth abnormality	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001507	HP:0001507	Growth abnormality	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0001507	HP:0001507	Growth abnormality	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0001507	HP:0001507	Growth abnormality	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0001507	HP:0001507	Growth abnormality	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001507	HP:0001507	Growth abnormality	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0001507	HP:0001507	Growth abnormality	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001507	HP:0001507	Growth abnormality	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0001507	HP:0001507	Growth abnormality	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0001507	HP:0001507	Growth abnormality	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0001507	HP:0001507	Growth abnormality	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0001507	HP:0001507	Growth abnormality	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0001507	HP:0001507	Growth abnormality	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0001507	HP:0001507	Growth abnormality	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0001507	HP:0001507	Growth abnormality	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0001507	HP:0001507	Growth abnormality	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0001507	HP:0001507	Growth abnormality	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0001507	HP:0001507	Growth abnormality	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0001507	HP:0001507	Growth abnormality	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.		125
HP:0001507	HP:0001507	Growth abnormality	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0001507	HP:0001507	Growth abnormality	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias			125
HP:0001507	HP:0001507	Growth abnormality	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001507	HP:0001507	Growth abnormality	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0001507	HP:0001507	Growth abnormality	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0001507	HP:0001507	Growth abnormality	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001507	HP:0001507	Growth abnormality	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0001507	HP:0001507	Growth abnormality	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001507	HP:0001507	Growth abnormality	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0001507	HP:0001507	Growth abnormality	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001507	HP:0001507	Growth abnormality	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001507	HP:0001507	Growth abnormality	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001507	HP:0001507	Growth abnormality	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001507	HP:0001507	Growth abnormality	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0001507	HP:0001507	Growth abnormality	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0001507	Growth abnormality	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0001507	Growth abnormality	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0001507	HP:0001507	Growth abnormality	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001507	HP:0001507	Growth abnormality	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0001507	HP:0001507	Growth abnormality	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0001507	HP:0001507	Growth abnormality	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0001507	HP:0001507	Growth abnormality	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0001507	HP:0001507	Growth abnormality	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001507	HP:0001507	Growth abnormality	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001507	HP:0001507	Growth abnormality	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001507	HP:0001507	Growth abnormality	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001507	HP:0001507	Growth abnormality	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001507	HP:0001507	Growth abnormality	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001507	HP:0001507	Growth abnormality	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001507	HP:0001507	Growth abnormality	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0001507	HP:0001507	Growth abnormality	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001507	Growth abnormality	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0001507	HP:0001507	Growth abnormality	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0001507	HP:0001507	Growth abnormality	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0001507	HP:0001507	Growth abnormality	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001507	HP:0001507	Growth abnormality	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001507	HP:0001507	Growth abnormality	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0001507	HP:0001507	Growth abnormality	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001507	HP:0001507	Growth abnormality	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0001507	HP:0001507	Growth abnormality	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0001507	HP:0001507	Growth abnormality	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0001507	HP:0001507	Growth abnormality	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0001507	HP:0001507	Growth abnormality	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0001507	HP:0001507	Growth abnormality	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0001507	HP:0001507	Growth abnormality	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0001507	HP:0001507	Growth abnormality	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0001507	HP:0001507	Growth abnormality	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0001507	Growth abnormality	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001507	HP:0001507	Growth abnormality	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0001507	HP:0001507	Growth abnormality	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0001507	HP:0001507	Growth abnormality	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0001507	Growth abnormality	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0001507	HP:0001507	Growth abnormality	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0001507	HP:0001507	Growth abnormality	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0001507	HP:0001507	Growth abnormality	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0001507	HP:0001507	Growth abnormality	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0001507	HP:0001507	Growth abnormality	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0001507	HP:0001507	Growth abnormality	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001507	HP:0001507	Growth abnormality	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0001507	HP:0001507	Growth abnormality	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001507	HP:0001507	Growth abnormality	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0001507	HP:0001507	Growth abnormality	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001507	HP:0001507	Growth abnormality	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0001507	HP:0001507	Growth abnormality	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001507	HP:0001507	Growth abnormality	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0001507	HP:0001507	Growth abnormality	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001507	HP:0001507	Growth abnormality	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0001507	HP:0001507	Growth abnormality	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001507	HP:0001507	Growth abnormality	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0001507	HP:0001507	Growth abnormality	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0001507	HP:0001507	Growth abnormality	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0001507	HP:0001507	Growth abnormality	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0001507	HP:0001507	Growth abnormality	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0001507	HP:0001507	Growth abnormality	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0001507	HP:0001507	Growth abnormality	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001507	HP:0001507	Growth abnormality	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0001507	HP:0001507	Growth abnormality	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0001507	HP:0001507	Growth abnormality	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0001507	HP:0001507	Growth abnormality	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0001507	HP:0001507	Growth abnormality	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001507	HP:0001507	Growth abnormality	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001507	HP:0001507	Growth abnormality	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0001507	HP:0001507	Growth abnormality	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001507	HP:0001507	Growth abnormality	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0001507	HP:0001507	Growth abnormality	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0001507	HP:0001507	Growth abnormality	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0001507	HP:0001507	Growth abnormality	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001507	HP:0001507	Growth abnormality	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0001507	HP:0001507	Growth abnormality	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0001507	HP:0001507	Growth abnormality	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0001507	HP:0001507	Growth abnormality	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0001507	HP:0001507	Growth abnormality	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001507	HP:0001507	Growth abnormality	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001507	HP:0001507	Growth abnormality	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0001507	HP:0001507	Growth abnormality	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0001507	HP:0001507	Growth abnormality	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0001507	HP:0001507	Growth abnormality	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001507	HP:0001507	Growth abnormality	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001507	HP:0001507	Growth abnormality	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0001507	HP:0001507	Growth abnormality	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0001507	HP:0001507	Growth abnormality	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0001507	HP:0001507	Growth abnormality	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001507	HP:0001507	Growth abnormality	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0001507	HP:0001507	Growth abnormality	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0001507	HP:0001507	Growth abnormality	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0001507	HP:0001507	Growth abnormality	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0001507	HP:0001507	Growth abnormality	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0001507	HP:0001507	Growth abnormality	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001507	HP:0001507	Growth abnormality	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0001507	HP:0001507	Growth abnormality	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0001507	HP:0001507	Growth abnormality	0	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10			118
HP:0001507	HP:0001507	Growth abnormality	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0001507	HP:0001507	Growth abnormality	0	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12			71
HP:0001507	HP:0001507	Growth abnormality	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0001507	HP:0001507	Growth abnormality	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001507	HP:0001507	Growth abnormality	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0001507	HP:0001507	Growth abnormality	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0001507	HP:0001507	Growth abnormality	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0001507	HP:0001507	Growth abnormality	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0001507	HP:0001507	Growth abnormality	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0001507	HP:0001507	Growth abnormality	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0001507	HP:0001507	Growth abnormality	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0001507	HP:0001507	Growth abnormality	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0001507	HP:0001507	Growth abnormality	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0001507	HP:0001507	Growth abnormality	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0001507	HP:0001507	Growth abnormality	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001507	HP:0001507	Growth abnormality	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0001507	HP:0001507	Growth abnormality	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0001507	HP:0001507	Growth abnormality	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0001507	HP:0001507	Growth abnormality	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0001507	HP:0001507	Growth abnormality	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0001507	HP:0001507	Growth abnormality	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0001507	HP:0001507	Growth abnormality	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0001507	HP:0001507	Growth abnormality	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0001507	HP:0001507	Growth abnormality	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001507	HP:0001507	Growth abnormality	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0001507	HP:0001507	Growth abnormality	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0001507	HP:0001507	Growth abnormality	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001507	HP:0001507	Growth abnormality	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0001507	HP:0001507	Growth abnormality	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0001507	HP:0001507	Growth abnormality	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001507	HP:0001507	Growth abnormality	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001507	HP:0001507	Growth abnormality	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001507	HP:0001507	Growth abnormality	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0001507	HP:0001507	Growth abnormality	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11			75
HP:0001507	HP:0001507	Growth abnormality	0	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0001507	HP:0001507	Growth abnormality	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0001507	HP:0001507	Growth abnormality	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001507	HP:0001507	Growth abnormality	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0001507	HP:0001507	Growth abnormality	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0001507	HP:0001507	Growth abnormality	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0001507	HP:0001507	Growth abnormality	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2			16
HP:0001507	HP:0001507	Growth abnormality	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001507	HP:0001507	Growth abnormality	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0001507	HP:0001507	Growth abnormality	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0001507	HP:0001507	Growth abnormality	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			385
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1			90
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0001507	HP:0001507	Growth abnormality	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			90
HP:0001507	HP:0001507	Growth abnormality	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001507	Growth abnormality	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001507	HP:0001507	Growth abnormality	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0001507	HP:0001507	Growth abnormality	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001507	HP:0001507	Growth abnormality	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001507	HP:0001507	Growth abnormality	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0001507	HP:0001507	Growth abnormality	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001507	HP:0001507	Growth abnormality	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0001507	HP:0001507	Growth abnormality	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0001507	HP:0001507	Growth abnormality	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001507	HP:0001507	Growth abnormality	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0001507	HP:0001507	Growth abnormality	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0001507	HP:0001507	Growth abnormality	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0001507	Growth abnormality	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001507	HP:0001507	Growth abnormality	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0001507	HP:0001507	Growth abnormality	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0001507	HP:0001507	Growth abnormality	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001507	HP:0001507	Growth abnormality	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001507	HP:0001507	Growth abnormality	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001507	HP:0001507	Growth abnormality	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0001507	HP:0001507	Growth abnormality	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0001507	HP:0001507	Growth abnormality	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0001507	HP:0001507	Growth abnormality	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0001507	HP:0001507	Growth abnormality	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001507	HP:0001507	Growth abnormality	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001507	HP:0001507	Growth abnormality	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001507	HP:0001507	Growth abnormality	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0001507	HP:0001507	Growth abnormality	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0001507	HP:0001507	Growth abnormality	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001507	HP:0001507	Growth abnormality	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0001507	HP:0001507	Growth abnormality	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0001507	HP:0001507	Growth abnormality	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001507	HP:0001507	Growth abnormality	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0001507	HP:0001507	Growth abnormality	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0001507	HP:0001507	Growth abnormality	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0001507	HP:0001507	Growth abnormality	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001507	HP:0001507	Growth abnormality	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0001507	Growth abnormality	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0001507	HP:0001507	Growth abnormality	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001507	HP:0001507	Growth abnormality	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1			247
HP:0001507	HP:0001507	Growth abnormality	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001507	HP:0001507	Growth abnormality	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0001507	HP:0001507	Growth abnormality	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001507	HP:0001507	Growth abnormality	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001507	HP:0001507	Growth abnormality	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0001507	HP:0001507	Growth abnormality	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0001507	HP:0001507	Growth abnormality	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0001507	Growth abnormality	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001507	HP:0001507	Growth abnormality	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0001507	HP:0001507	Growth abnormality	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001507	HP:0001507	Growth abnormality	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0001507	HP:0001507	Growth abnormality	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001507	Growth abnormality	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001507	HP:0001507	Growth abnormality	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0001507	HP:0001507	Growth abnormality	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0001507	HP:0001507	Growth abnormality	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001507	HP:0001507	Growth abnormality	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0001507	HP:0001507	Growth abnormality	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0001507	HP:0001507	Growth abnormality	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0001507	HP:0001507	Growth abnormality	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0001507	HP:0001507	Growth abnormality	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1			272
HP:0001507	HP:0001507	Growth abnormality	0	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0001507	HP:0001507	Growth abnormality	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001507	HP:0001507	Growth abnormality	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0001507	HP:0001507	Growth abnormality	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0001507	HP:0001507	Growth abnormality	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001507	HP:0001507	Growth abnormality	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0001507	HP:0001507	Growth abnormality	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0001507	HP:0001507	Growth abnormality	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001507	HP:0001507	Growth abnormality	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001507	HP:0001507	Growth abnormality	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0001507	HP:0001507	Growth abnormality	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001507	HP:0001507	Growth abnormality	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001507	HP:0001507	Growth abnormality	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001507	HP:0001507	Growth abnormality	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001507	HP:0001507	Growth abnormality	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0001507	Growth abnormality	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0001507	HP:0001507	Growth abnormality	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001507	HP:0001507	Growth abnormality	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001507	HP:0001507	Growth abnormality	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001507	HP:0001507	Growth abnormality	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0001507	HP:0001507	Growth abnormality	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0001507	HP:0001507	Growth abnormality	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0001507	HP:0001507	Growth abnormality	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0001507	HP:0001507	Growth abnormality	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0001507	HP:0001507	Growth abnormality	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001507	HP:0001507	Growth abnormality	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001507	HP:0001507	Growth abnormality	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0001507	HP:0001507	Growth abnormality	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0001507	Growth abnormality	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0001507	Growth abnormality	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0001507	Growth abnormality	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0001507	HP:0001507	Growth abnormality	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19			18
HP:0001507	HP:0001507	Growth abnormality	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0001507	HP:0001507	Growth abnormality	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0001507	HP:0001507	Growth abnormality	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0001507	HP:0001507	Growth abnormality	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0001507	HP:0001507	Growth abnormality	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001507	HP:0001507	Growth abnormality	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0001507	HP:0001507	Growth abnormality	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive			9
HP:0001507	HP:0001507	Growth abnormality	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0001507	HP:0001507	Growth abnormality	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0001507	HP:0001507	Growth abnormality	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0001507	Growth abnormality	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001507	HP:0001507	Growth abnormality	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001507	HP:0001507	Growth abnormality	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001507	HP:0001507	Growth abnormality	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001507	HP:0001507	Growth abnormality	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001507	HP:0001507	Growth abnormality	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0001507	HP:0001507	Growth abnormality	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0001507	HP:0001507	Growth abnormality	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0001507	HP:0001507	Growth abnormality	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0001507	HP:0001507	Growth abnormality	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001507	HP:0001507	Growth abnormality	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0001507	HP:0001507	Growth abnormality	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0001507	HP:0001507	Growth abnormality	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0001507	HP:0001507	Growth abnormality	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0001507	HP:0001507	Growth abnormality	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0001507	HP:0001507	Growth abnormality	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001507	HP:0001507	Growth abnormality	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0001507	HP:0001507	Growth abnormality	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0001507	HP:0001507	Growth abnormality	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0001507	HP:0001507	Growth abnormality	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0001507	HP:0001507	Growth abnormality	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0001507	HP:0001507	Growth abnormality	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001507	HP:0001507	Growth abnormality	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0001507	HP:0001507	Growth abnormality	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0001507	HP:0001507	Growth abnormality	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001507	HP:0001507	Growth abnormality	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome			114
HP:0001507	HP:0001507	Growth abnormality	0	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome			114
HP:0001507	HP:0001507	Growth abnormality	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0001507	HP:0001507	Growth abnormality	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001507	HP:0001507	Growth abnormality	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0001507	HP:0001507	Growth abnormality	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0001507	HP:0001507	Growth abnormality	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0001507	HP:0001507	Growth abnormality	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0001507	HP:0001507	Growth abnormality	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0001507	HP:0001507	Growth abnormality	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0001507	HP:0001507	Growth abnormality	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001507	HP:0001507	Growth abnormality	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0001507	HP:0001507	Growth abnormality	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0001507	HP:0001507	Growth abnormality	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0001507	HP:0001507	Growth abnormality	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0001507	HP:0001507	Growth abnormality	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0001507	HP:0001507	Growth abnormality	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001507	Growth abnormality	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001507	Growth abnormality	0	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0001507	HP:0001507	Growth abnormality	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001507	HP:0001507	Growth abnormality	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001507	HP:0001507	Growth abnormality	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0001507	HP:0001507	Growth abnormality	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0001507	HP:0001507	Growth abnormality	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0001507	HP:0001507	Growth abnormality	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0001507	HP:0001507	Growth abnormality	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0001507	Growth abnormality	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0001507	HP:0001507	Growth abnormality	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0001507	HP:0001507	Growth abnormality	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0001507	HP:0001507	Growth abnormality	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0001507	HP:0001507	Growth abnormality	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0001507	HP:0001507	Growth abnormality	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0001507	HP:0001507	Growth abnormality	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0001507	HP:0001507	Growth abnormality	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0001507	HP:0001507	Growth abnormality	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0001507	HP:0001507	Growth abnormality	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001507	HP:0001507	Growth abnormality	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0001507	HP:0001507	Growth abnormality	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001507	HP:0001507	Growth abnormality	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0001507	Growth abnormality	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0001507	HP:0001507	Growth abnormality	0	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0001507	HP:0001507	Growth abnormality	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0001507	HP:0001507	Growth abnormality	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0001507	HP:0001507	Growth abnormality	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0001507	HP:0001507	Growth abnormality	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0001507	Growth abnormality	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0001507	HP:0001507	Growth abnormality	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0001507	Growth abnormality	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001507	HP:0001507	Growth abnormality	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001507	HP:0001507	Growth abnormality	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001507	HP:0001507	Growth abnormality	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001507	HP:0001507	Growth abnormality	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0001507	HP:0001507	Growth abnormality	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001507	HP:0001507	Growth abnormality	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0001507	HP:0001507	Growth abnormality	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001507	HP:0001507	Growth abnormality	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0001507	HP:0001507	Growth abnormality	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001507	HP:0001507	Growth abnormality	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001507	HP:0001507	Growth abnormality	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0001507	HP:0001507	Growth abnormality	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0001507	HP:0001507	Growth abnormality	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001507	HP:0001507	Growth abnormality	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0001507	HP:0001507	Growth abnormality	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0001507	HP:0001507	Growth abnormality	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001507	HP:0001507	Growth abnormality	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0001507	HP:0001507	Growth abnormality	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001507	HP:0001507	Growth abnormality	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0001507	HP:0001507	Growth abnormality	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0001507	HP:0001507	Growth abnormality	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001507	HP:0001507	Growth abnormality	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0001507	HP:0001507	Growth abnormality	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001507	HP:0001507	Growth abnormality	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits			1
HP:0001507	HP:0001507	Growth abnormality	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0001507	HP:0001507	Growth abnormality	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0001507	HP:0001507	Growth abnormality	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001507	HP:0001507	Growth abnormality	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001507	HP:0001507	Growth abnormality	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0001507	HP:0001507	Growth abnormality	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0001507	HP:0001507	Growth abnormality	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0001507	HP:0001507	Growth abnormality	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0001507	HP:0001507	Growth abnormality	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001507	HP:0001507	Growth abnormality	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0001507	HP:0001507	Growth abnormality	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0001507	HP:0001507	Growth abnormality	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0001507	HP:0001507	Growth abnormality	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001507	Growth abnormality	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001507	HP:0001507	Growth abnormality	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0001507	HP:0001507	Growth abnormality	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0001507	HP:0001507	Growth abnormality	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis			112
HP:0001507	HP:0001507	Growth abnormality	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0001507	HP:0001507	Growth abnormality	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0001507	HP:0001507	Growth abnormality	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0001507	HP:0001507	Growth abnormality	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0001507	HP:0001507	Growth abnormality	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0001507	HP:0001507	Growth abnormality	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0001507	HP:0001507	Growth abnormality	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0001507	HP:0001507	Growth abnormality	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001507	HP:0001507	Growth abnormality	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0001507	HP:0001507	Growth abnormality	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0001507	HP:0001507	Growth abnormality	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0001507	HP:0001507	Growth abnormality	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0001507	HP:0001507	Growth abnormality	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0001507	HP:0001507	Growth abnormality	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001507	HP:0001507	Growth abnormality	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0001507	HP:0001507	Growth abnormality	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0001507	HP:0001507	Growth abnormality	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001507	Growth abnormality	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0001507	HP:0001507	Growth abnormality	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0001507	HP:0001507	Growth abnormality	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0001507	HP:0001507	Growth abnormality	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0001507	HP:0001507	Growth abnormality	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001507	HP:0001507	Growth abnormality	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0001507	HP:0001507	Growth abnormality	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0001507	Growth abnormality	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001507	HP:0001507	Growth abnormality	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001507	HP:0001507	Growth abnormality	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001507	HP:0001507	Growth abnormality	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001507	HP:0001507	Growth abnormality	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001507	HP:0001507	Growth abnormality	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0001507	Growth abnormality	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0001507	Growth abnormality	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0001507	HP:0001507	Growth abnormality	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0001507	HP:0001507	Growth abnormality	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type			67
HP:0001507	HP:0001507	Growth abnormality	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0001507	HP:0001507	Growth abnormality	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0001507	HP:0001507	Growth abnormality	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0001507	HP:0001507	Growth abnormality	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001507	HP:0001507	Growth abnormality	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001507	HP:0001507	Growth abnormality	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0001507	HP:0001507	Growth abnormality	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0001507	HP:0001507	Growth abnormality	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0001507	HP:0001507	Growth abnormality	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0001507	Growth abnormality	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0001507	Growth abnormality	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0001507	HP:0001507	Growth abnormality	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0001507	HP:0001507	Growth abnormality	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0001507	HP:0001507	Growth abnormality	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001507	HP:0001507	Growth abnormality	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001507	HP:0001507	Growth abnormality	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0001507	HP:0001507	Growth abnormality	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0001507	HP:0001507	Growth abnormality	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0001507	HP:0001507	Growth abnormality	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0001507	HP:0001507	Growth abnormality	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0001507	HP:0001507	Growth abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0001507	HP:0001507	Growth abnormality	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0001507	HP:0001507	Growth abnormality	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001507	HP:0001507	Growth abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2			243
HP:0001507	HP:0001507	Growth abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001507	HP:0001507	Growth abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0001507	HP:0001507	Growth abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0001507	HP:0001507	Growth abnormality	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0001507	HP:0001507	Growth abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0001507	HP:0001507	Growth abnormality	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0001507	HP:0001507	Growth abnormality	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001507	HP:0001507	Growth abnormality	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0001507	HP:0001507	Growth abnormality	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0001507	HP:0001507	Growth abnormality	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0001507	HP:0001507	Growth abnormality	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0001507	HP:0001507	Growth abnormality	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001507	HP:0001507	Growth abnormality	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0001507	HP:0001507	Growth abnormality	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0001507	HP:0001507	Growth abnormality	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0001507	HP:0001507	Growth abnormality	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0001507	HP:0001507	Growth abnormality	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0001507	HP:0001507	Growth abnormality	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0001507	HP:0001507	Growth abnormality	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0001507	HP:0001507	Growth abnormality	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0001507	HP:0001507	Growth abnormality	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0001507	HP:0001507	Growth abnormality	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0001507	HP:0001507	Growth abnormality	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0001507	HP:0001507	Growth abnormality	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0001507	HP:0001507	Growth abnormality	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0001507	HP:0001507	Growth abnormality	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0001507	HP:0001507	Growth abnormality	0	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0001507	HP:0001507	Growth abnormality	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0001507	HP:0001507	Growth abnormality	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0001507	HP:0001507	Growth abnormality	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0001507	HP:0001507	Growth abnormality	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0001507	HP:0001507	Growth abnormality	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0001507	HP:0001507	Growth abnormality	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0001507	HP:0001507	Growth abnormality	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0001507	HP:0001507	Growth abnormality	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0001507	HP:0001507	Growth abnormality	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0001507	HP:0001507	Growth abnormality	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001507	HP:0001507	Growth abnormality	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001507	Growth abnormality	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0001507	HP:0001507	Growth abnormality	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001507	HP:0001507	Growth abnormality	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001507	HP:0001507	Growth abnormality	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001507	HP:0001507	Growth abnormality	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0001507	HP:0001507	Growth abnormality	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0001507	HP:0001507	Growth abnormality	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001507	HP:0001507	Growth abnormality	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001507	HP:0001507	Growth abnormality	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001507	HP:0001507	Growth abnormality	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0001507	HP:0001507	Growth abnormality	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001507	HP:0001507	Growth abnormality	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0001507	HP:0001507	Growth abnormality	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001507	HP:0001507	Growth abnormality	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001507	HP:0001507	Growth abnormality	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001507	HP:0001507	Growth abnormality	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001507	HP:0001507	Growth abnormality	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0001507	HP:0001507	Growth abnormality	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001507	HP:0001507	Growth abnormality	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0001507	Growth abnormality	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001507	HP:0001507	Growth abnormality	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0001507	HP:0001507	Growth abnormality	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001507	HP:0001507	Growth abnormality	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0001507	Growth abnormality	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0001507	HP:0001507	Growth abnormality	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0001507	Growth abnormality	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0001507	Growth abnormality	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001507	HP:0001507	Growth abnormality	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001507	HP:0001507	Growth abnormality	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0001507	Growth abnormality	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0001507	HP:0001507	Growth abnormality	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0001507	HP:0001507	Growth abnormality	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0001507	HP:0001507	Growth abnormality	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0001507	HP:0001507	Growth abnormality	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0001507	HP:0001507	Growth abnormality	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0001507	HP:0001507	Growth abnormality	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001507	HP:0001507	Growth abnormality	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001507	HP:0001507	Growth abnormality	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0001507	Growth abnormality	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0001507	HP:0001507	Growth abnormality	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0001507	HP:0001507	Growth abnormality	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001507	HP:0001507	Growth abnormality	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001507	HP:0001507	Growth abnormality	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0001507	HP:0001507	Growth abnormality	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0001507	HP:0001507	Growth abnormality	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0001507	HP:0001507	Growth abnormality	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0001507	HP:0001507	Growth abnormality	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0001507	HP:0001507	Growth abnormality	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0001507	HP:0001507	Growth abnormality	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001507	HP:0001507	Growth abnormality	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0001507	HP:0001507	Growth abnormality	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.		178
HP:0001507	HP:0001507	Growth abnormality	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0001507	Growth abnormality	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0001507	HP:0001507	Growth abnormality	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0001507	HP:0001507	Growth abnormality	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0001507	HP:0001507	Growth abnormality	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001507	HP:0001507	Growth abnormality	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0001507	Growth abnormality	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0001507	HP:0001507	Growth abnormality	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0001507	Growth abnormality	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001507	HP:0001507	Growth abnormality	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001507	HP:0001507	Growth abnormality	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001507	HP:0001507	Growth abnormality	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0001507	HP:0001507	Growth abnormality	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0001507	HP:0001507	Growth abnormality	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0001507	HP:0001507	Growth abnormality	0	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development			1
HP:0001507	HP:0001507	Growth abnormality	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001507	HP:0001507	Growth abnormality	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0001507	HP:0001507	Growth abnormality	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0001507	HP:0001507	Growth abnormality	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0001507	HP:0001507	Growth abnormality	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0001507	HP:0001507	Growth abnormality	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001507	HP:0001507	Growth abnormality	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0001507	HP:0001507	Growth abnormality	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001507	Growth abnormality	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0001507	HP:0001507	Growth abnormality	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0001507	HP:0001507	Growth abnormality	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency			112
HP:0001507	HP:0001507	Growth abnormality	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent		112
HP:0001507	HP:0001507	Growth abnormality	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0001507	HP:0001507	Growth abnormality	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism			73
HP:0001507	HP:0001507	Growth abnormality	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency			73
HP:0001507	HP:0001507	Growth abnormality	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0001507	HP:0001507	Growth abnormality	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0001507	HP:0001507	Growth abnormality	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0001507	HP:0001507	Growth abnormality	0	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.		86
HP:0001507	HP:0001507	Growth abnormality	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0001507	HP:0001507	Growth abnormality	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0001507	HP:0001507	Growth abnormality	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0001507	HP:0001507	Growth abnormality	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0001507	HP:0001507	Growth abnormality	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0001507	HP:0001507	Growth abnormality	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0001507	HP:0001507	Growth abnormality	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0001507	HP:0001507	Growth abnormality	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0001507	HP:0001507	Growth abnormality	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0001507	HP:0001507	Growth abnormality	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001507	HP:0001507	Growth abnormality	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001507	HP:0001507	Growth abnormality	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001507	HP:0001507	Growth abnormality	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001507	HP:0001507	Growth abnormality	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0001507	HP:0001507	Growth abnormality	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0001507	HP:0001507	Growth abnormality	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0001507	HP:0001507	Growth abnormality	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0001507	HP:0001507	Growth abnormality	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001507	HP:0001507	Growth abnormality	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0001507	HP:0001507	Growth abnormality	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency			94
HP:0001507	HP:0001507	Growth abnormality	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0001507	HP:0001507	Growth abnormality	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0001507	HP:0001507	Growth abnormality	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0001507	HP:0001507	Growth abnormality	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001507	Growth abnormality	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0001507	HP:0001507	Growth abnormality	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001507	HP:0001507	Growth abnormality	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0001507	HP:0001507	Growth abnormality	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0001507	HP:0001507	Growth abnormality	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001507	HP:0001507	Growth abnormality	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0001507	HP:0001507	Growth abnormality	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0001507	HP:0001507	Growth abnormality	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0001507	HP:0001507	Growth abnormality	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001507	Growth abnormality	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001507	Growth abnormality	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001507	HP:0001507	Growth abnormality	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001507	HP:0001507	Growth abnormality	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001507	HP:0001507	Growth abnormality	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0001507	HP:0001507	Growth abnormality	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0001507	HP:0001507	Growth abnormality	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001507	Growth abnormality	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001507	Growth abnormality	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001507	Growth abnormality	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0001507	HP:0001507	Growth abnormality	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0001507	HP:0001507	Growth abnormality	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0001507	Growth abnormality	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0001507	Growth abnormality	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0001507	Growth abnormality	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0001507	HP:0001507	Growth abnormality	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001507	HP:0001507	Growth abnormality	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0001507	HP:0001507	Growth abnormality	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0001507	HP:0001507	Growth abnormality	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0001507	HP:0001507	Growth abnormality	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001507	HP:0001507	Growth abnormality	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0001507	HP:0001507	Growth abnormality	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0001507	Growth abnormality	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome			118
HP:0001507	HP:0001507	Growth abnormality	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0001507	HP:0001507	Growth abnormality	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0001507	HP:0001507	Growth abnormality	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0001507	HP:0001507	Growth abnormality	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0001507	HP:0001507	Growth abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0001507	HP:0001507	Growth abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0001507	HP:0001507	Growth abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001507	HP:0001507	Growth abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0001507	HP:0001507	Growth abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0001507	HP:0001507	Growth abnormality	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0001507	HP:0001507	Growth abnormality	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0001507	HP:0001507	Growth abnormality	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0001507	HP:0001507	Growth abnormality	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0001507	HP:0001507	Growth abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0001507	Growth abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001507	HP:0001507	Growth abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001507	Growth abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001507	Growth abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0001507	Growth abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0001507	Growth abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0001507	HP:0001507	Growth abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0001507	HP:0001507	Growth abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001507	HP:0001507	Growth abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0001507	HP:0001507	Growth abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0001507	HP:0001507	Growth abnormality	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0001507	HP:0001507	Growth abnormality	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0001507	Growth abnormality	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001507	HP:0001507	Growth abnormality	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0001507	HP:0001507	Growth abnormality	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0001507	HP:0001507	Growth abnormality	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001507	HP:0001507	Growth abnormality	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0001507	HP:0001507	Growth abnormality	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001507	HP:0001507	Growth abnormality	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001507	HP:0001507	Growth abnormality	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0001507	HP:0001507	Growth abnormality	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0001507	HP:0001507	Growth abnormality	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001507	HP:0001507	Growth abnormality	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001507	HP:0001507	Growth abnormality	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0001507	HP:0001507	Growth abnormality	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0001507	HP:0001507	Growth abnormality	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001507	HP:0001507	Growth abnormality	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001507	HP:0001507	Growth abnormality	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0001507	Growth abnormality	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0001507	HP:0001507	Growth abnormality	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0001507	Growth abnormality	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0001507	Growth abnormality	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0001507	HP:0001507	Growth abnormality	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0001507	HP:0001507	Growth abnormality	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0001507	HP:0001507	Growth abnormality	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0001507	HP:0001507	Growth abnormality	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001507	HP:0001507	Growth abnormality	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0001507	HP:0001507	Growth abnormality	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001507	HP:0001507	Growth abnormality	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0001507	HP:0001507	Growth abnormality	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001507	HP:0001507	Growth abnormality	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0001507	HP:0001507	Growth abnormality	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001507	HP:0001507	Growth abnormality	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001507	HP:0001507	Growth abnormality	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001507	HP:0001507	Growth abnormality	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0001507	HP:0001507	Growth abnormality	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001507	HP:0001507	Growth abnormality	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001507	HP:0001507	Growth abnormality	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0001507	HP:0001507	Growth abnormality	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0001507	HP:0001507	Growth abnormality	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0001507	HP:0001507	Growth abnormality	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0001507	HP:0001507	Growth abnormality	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0001507	HP:0001507	Growth abnormality	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0001507	HP:0001507	Growth abnormality	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0001507	HP:0001507	Growth abnormality	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0001507	HP:0001507	Growth abnormality	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001507	HP:0001507	Growth abnormality	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0001507	HP:0001507	Growth abnormality	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001507	HP:0001507	Growth abnormality	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0001507	HP:0001507	Growth abnormality	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001507	HP:0001507	Growth abnormality	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0001507	HP:0001507	Growth abnormality	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001507	HP:0001507	Growth abnormality	0	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5			11
HP:0001507	HP:0001507	Growth abnormality	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0001507	HP:0001507	Growth abnormality	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0001507	HP:0001507	Growth abnormality	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0001507	HP:0001507	Growth abnormality	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001507	HP:0001507	Growth abnormality	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0001507	Growth abnormality	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0001507	Growth abnormality	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0001507	HP:0001507	Growth abnormality	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome			304
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001507	HP:0001507	Growth abnormality	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001507	HP:0001507	Growth abnormality	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001507	HP:0001507	Growth abnormality	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001507	HP:0001507	Growth abnormality	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0001507	Growth abnormality	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3			7
HP:0001507	HP:0001507	Growth abnormality	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0001507	HP:0001507	Growth abnormality	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0001507	HP:0001507	Growth abnormality	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001507	HP:0001507	Growth abnormality	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0001507	Growth abnormality	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001507	HP:0001507	Growth abnormality	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0001507	HP:0001507	Growth abnormality	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0001507	Growth abnormality	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0001507	HP:0001507	Growth abnormality	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0001507	HP:0001507	Growth abnormality	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001507	HP:0001507	Growth abnormality	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0001507	HP:0001507	Growth abnormality	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0001507	Growth abnormality	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0001507	HP:0001507	Growth abnormality	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0001507	HP:0001507	Growth abnormality	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001507	HP:0001507	Growth abnormality	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0001507	HP:0001507	Growth abnormality	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0001507	HP:0001507	Growth abnormality	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001507	HP:0001507	Growth abnormality	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0001507	HP:0001507	Growth abnormality	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001507	HP:0001507	Growth abnormality	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0001507	HP:0001507	Growth abnormality	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0001507	HP:0001507	Growth abnormality	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0001507	HP:0001507	Growth abnormality	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001507	HP:0001507	Growth abnormality	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0001507	HP:0001507	Growth abnormality	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0001507	HP:0001507	Growth abnormality	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0001507	HP:0001507	Growth abnormality	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001507	HP:0001507	Growth abnormality	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0001507	HP:0001507	Growth abnormality	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001507	HP:0001507	Growth abnormality	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001507	HP:0001507	Growth abnormality	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0001507	HP:0001507	Growth abnormality	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.		79
HP:0001507	HP:0001507	Growth abnormality	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001507	HP:0001507	Growth abnormality	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0001507	HP:0001507	Growth abnormality	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0001507	HP:0001507	Growth abnormality	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001507	HP:0001507	Growth abnormality	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0001507	Growth abnormality	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0001507	HP:0001507	Growth abnormality	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0001507	HP:0001507	Growth abnormality	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0001507	HP:0001507	Growth abnormality	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0001507	HP:0001507	Growth abnormality	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001507	HP:0001507	Growth abnormality	0	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0001507	HP:0001507	Growth abnormality	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			186
HP:0001507	HP:0001507	Growth abnormality	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	.		151
HP:0001507	HP:0001507	Growth abnormality	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0001507	HP:0001507	Growth abnormality	0	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent			151
HP:0001507	HP:0001507	Growth abnormality	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001507	HP:0001507	Growth abnormality	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0001507	HP:0001507	Growth abnormality	0	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0001507	HP:0001507	Growth abnormality	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0001507	HP:0001507	Growth abnormality	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0001507	HP:0001507	Growth abnormality	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0001507	Growth abnormality	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0001507	HP:0001507	Growth abnormality	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001507	HP:0001507	Growth abnormality	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0001507	HP:0001507	Growth abnormality	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001507	HP:0001507	Growth abnormality	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0001507	HP:0001507	Growth abnormality	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001507	HP:0001507	Growth abnormality	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0001507	HP:0001507	Growth abnormality	0	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital			170
HP:0001507	HP:0001507	Growth abnormality	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0001507	HP:0001507	Growth abnormality	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001507	HP:0001507	Growth abnormality	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0001507	HP:0001507	Growth abnormality	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0001507	HP:0001507	Growth abnormality	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0001507	HP:0001507	Growth abnormality	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0001507	HP:0001507	Growth abnormality	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0001507	HP:0001507	Growth abnormality	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0001507	HP:0001507	Growth abnormality	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0001507	HP:0001507	Growth abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0001507	HP:0001507	Growth abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001507	HP:0001507	Growth abnormality	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0001507	HP:0001507	Growth abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0001507	HP:0001507	Growth abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0001507	HP:0001507	Growth abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001507	HP:0001507	Growth abnormality	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0001507	HP:0001507	Growth abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0001507	HP:0001507	Growth abnormality	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0001507	HP:0001507	Growth abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0001507	HP:0001507	Growth abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0001507	HP:0001507	Growth abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001507	HP:0001507	Growth abnormality	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001507	HP:0001507	Growth abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0001507	HP:0001507	Growth abnormality	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0001507	HP:0001507	Growth abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0001507	HP:0001507	Growth abnormality	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0001507	Growth abnormality	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0001507	HP:0001507	Growth abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0001507	HP:0001507	Growth abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0001507	HP:0001507	Growth abnormality	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0001507	HP:0001507	Growth abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0001507	HP:0001507	Growth abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0001507	HP:0001507	Growth abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0001507	HP:0001507	Growth abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0001507	HP:0001507	Growth abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0001507	HP:0001507	Growth abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0001507	Growth abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0001507	HP:0001507	Growth abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0001507	HP:0001507	Growth abnormality	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0001507	Growth abnormality	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0001507	HP:0001507	Growth abnormality	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0001507	HP:0001507	Growth abnormality	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0001507	HP:0001507	Growth abnormality	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0001507	HP:0001507	Growth abnormality	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0001507	HP:0001507	Growth abnormality	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0001507	HP:0001507	Growth abnormality	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001507	HP:0001507	Growth abnormality	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0001507	HP:0001507	Growth abnormality	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0001507	HP:0001507	Growth abnormality	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0001507	HP:0001507	Growth abnormality	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0001507	HP:0001507	Growth abnormality	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0001507	Growth abnormality	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001507	HP:0001507	Growth abnormality	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0001507	HP:0001507	Growth abnormality	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0001507	HP:0001507	Growth abnormality	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0001507	Growth abnormality	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001507	HP:0001507	Growth abnormality	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0001507	HP:0001507	Growth abnormality	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0001507	HP:0001507	Growth abnormality	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0001507	HP:0001507	Growth abnormality	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001507	HP:0001507	Growth abnormality	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001507	HP:0001507	Growth abnormality	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0001507	HP:0001507	Growth abnormality	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0001507	HP:0001507	Growth abnormality	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0001507	HP:0001507	Growth abnormality	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0001507	HP:0001507	Growth abnormality	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0001507	HP:0001507	Growth abnormality	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0001507	HP:0001507	Growth abnormality	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0001507	HP:0001507	Growth abnormality	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0001507	HP:0001507	Growth abnormality	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0001507	HP:0001507	Growth abnormality	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0001507	HP:0001507	Growth abnormality	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0001507	HP:0001507	Growth abnormality	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001507	HP:0001507	Growth abnormality	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0001507	HP:0001507	Growth abnormality	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0001507	HP:0001507	Growth abnormality	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0001507	HP:0001507	Growth abnormality	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0001507	Growth abnormality	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0001507	HP:0001507	Growth abnormality	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0001507	HP:0001507	Growth abnormality	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0001507	HP:0001507	Growth abnormality	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0001507	HP:0001507	Growth abnormality	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0001507	HP:0001507	Growth abnormality	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001507	HP:0001507	Growth abnormality	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001507	HP:0001507	Growth abnormality	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001507	HP:0001507	Growth abnormality	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001507	HP:0001507	Growth abnormality	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001507	HP:0001507	Growth abnormality	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001507	HP:0001507	Growth abnormality	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001507	HP:0001507	Growth abnormality	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001507	HP:0001507	Growth abnormality	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001507	HP:0001507	Growth abnormality	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0001507	Growth abnormality	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0001507	HP:0001507	Growth abnormality	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001507	HP:0001507	Growth abnormality	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0001507	Growth abnormality	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0001507	Growth abnormality	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0001507	HP:0001507	Growth abnormality	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001507	HP:0001507	Growth abnormality	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001507	HP:0001507	Growth abnormality	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001507	HP:0001507	Growth abnormality	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0001507	HP:0001507	Growth abnormality	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001507	HP:0001507	Growth abnormality	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0001507	HP:0001507	Growth abnormality	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0001507	HP:0001507	Growth abnormality	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0001507	HP:0001507	Growth abnormality	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001507	HP:0001507	Growth abnormality	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0001507	Growth abnormality	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0001507	HP:0001507	Growth abnormality	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0001507	HP:0001507	Growth abnormality	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0001507	HP:0001507	Growth abnormality	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0001507	HP:0001507	Growth abnormality	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001507	HP:0001507	Growth abnormality	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0001507	HP:0001507	Growth abnormality	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0001507	HP:0001507	Growth abnormality	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0001507	HP:0001507	Growth abnormality	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001507	HP:0001507	Growth abnormality	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001507	HP:0001507	Growth abnormality	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001507	HP:0001507	Growth abnormality	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0001507	HP:0001507	Growth abnormality	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0001507	HP:0001507	Growth abnormality	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001507	HP:0001507	Growth abnormality	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001507	HP:0001507	Growth abnormality	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001507	HP:0001507	Growth abnormality	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001507	HP:0001507	Growth abnormality	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001507	HP:0001507	Growth abnormality	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0001507	Growth abnormality	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0001507	HP:0001507	Growth abnormality	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001507	Growth abnormality	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001507	Growth abnormality	0	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia			3
HP:0001507	HP:0001507	Growth abnormality	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0001507	Growth abnormality	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0001507	HP:0001507	Growth abnormality	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0001507	HP:0001507	Growth abnormality	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0001507	HP:0001507	Growth abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0001507	HP:0001507	Growth abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0001507	HP:0001507	Growth abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0001507	HP:0001507	Growth abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001507	HP:0001507	Growth abnormality	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0001507	Growth abnormality	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0001507	HP:0001507	Growth abnormality	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0001507	HP:0001507	Growth abnormality	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001507	HP:0001507	Growth abnormality	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001507	HP:0001507	Growth abnormality	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0001507	Growth abnormality	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001507	HP:0001507	Growth abnormality	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0001507	HP:0001507	Growth abnormality	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0001507	HP:0001507	Growth abnormality	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0001507	HP:0001507	Growth abnormality	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0001507	HP:0001507	Growth abnormality	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0001507	HP:0001507	Growth abnormality	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0001507	Growth abnormality	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0001507	HP:0001507	Growth abnormality	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0001507	HP:0001507	Growth abnormality	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001507	HP:0001507	Growth abnormality	0	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0001507	HP:0001507	Growth abnormality	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0001507	HP:0001507	Growth abnormality	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0001507	HP:0001507	Growth abnormality	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001507	HP:0001507	Growth abnormality	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001507	HP:0001507	Growth abnormality	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			9
HP:0001507	HP:0001507	Growth abnormality	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001507	HP:0001507	Growth abnormality	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001507	HP:0001507	Growth abnormality	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0001507	HP:0001507	Growth abnormality	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome			63
HP:0001507	HP:0001507	Growth abnormality	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0001507	HP:0001507	Growth abnormality	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0001507	HP:0001507	Growth abnormality	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0001507	HP:0001507	Growth abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0001507	HP:0001507	Growth abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0001507	HP:0001507	Growth abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001507	HP:0001507	Growth abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0001507	HP:0001507	Growth abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0001507	HP:0001507	Growth abnormality	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0001507	HP:0001507	Growth abnormality	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0001507	HP:0001507	Growth abnormality	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0001507	HP:0001507	Growth abnormality	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0001507	HP:0001507	Growth abnormality	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001507	HP:0001507	Growth abnormality	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001507	HP:0001507	Growth abnormality	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001507	HP:0001507	Growth abnormality	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001507	HP:0001507	Growth abnormality	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0001507	HP:0001507	Growth abnormality	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0001507	HP:0001507	Growth abnormality	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0001507	HP:0001507	Growth abnormality	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency			65
HP:0001507	HP:0001507	Growth abnormality	0	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14			70
HP:0001507	HP:0001507	Growth abnormality	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001507	HP:0001507	Growth abnormality	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0001507	HP:0001507	Growth abnormality	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0001507	HP:0001507	Growth abnormality	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0001507	HP:0001507	Growth abnormality	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001507	HP:0001507	Growth abnormality	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001507	HP:0001507	Growth abnormality	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001507	HP:0001507	Growth abnormality	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0001507	HP:0001507	Growth abnormality	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001507	HP:0001507	Growth abnormality	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0001507	HP:0001507	Growth abnormality	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0001507	HP:0001507	Growth abnormality	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001507	HP:0001507	Growth abnormality	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001507	HP:0001507	Growth abnormality	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0001507	Growth abnormality	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001507	HP:0001507	Growth abnormality	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001507	HP:0001507	Growth abnormality	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001507	HP:0001507	Growth abnormality	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001507	HP:0001507	Growth abnormality	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0001507	HP:0001507	Growth abnormality	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0001507	HP:0001507	Growth abnormality	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0001507	HP:0001507	Growth abnormality	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0001507	HP:0001507	Growth abnormality	0	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency
HP:0001507	HP:0001507	Growth abnormality	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0001507	HP:0001507	Growth abnormality	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001507	HP:0001507	Growth abnormality	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0001507	HP:0001507	Growth abnormality	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0001507	HP:0001507	Growth abnormality	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001507	HP:0001507	Growth abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0001507	HP:0001507	Growth abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0001507	HP:0001507	Growth abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001507	HP:0001507	Growth abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0001507	HP:0001507	Growth abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0001507	HP:0001507	Growth abnormality	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001507	HP:0001507	Growth abnormality	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001507	HP:0001507	Growth abnormality	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0001507	HP:0001507	Growth abnormality	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0001507	HP:0001507	Growth abnormality	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0001507	HP:0001507	Growth abnormality	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001507	HP:0001507	Growth abnormality	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0001507	HP:0001507	Growth abnormality	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0001507	HP:0001507	Growth abnormality	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001507	HP:0001507	Growth abnormality	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0001507	HP:0001507	Growth abnormality	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001507	HP:0001507	Growth abnormality	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001507	HP:0001507	Growth abnormality	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0001507	HP:0001507	Growth abnormality	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0001507	HP:0001507	Growth abnormality	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0001507	HP:0001507	Growth abnormality	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0001507	HP:0001507	Growth abnormality	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001507	HP:0001507	Growth abnormality	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001507	HP:0001507	Growth abnormality	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0001507	HP:0001507	Growth abnormality	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0001507	HP:0001507	Growth abnormality	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001507	HP:0001507	Growth abnormality	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001507	HP:0001507	Growth abnormality	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001507	HP:0001507	Growth abnormality	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0001507	HP:0001507	Growth abnormality	0	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent			237
HP:0001507	HP:0001507	Growth abnormality	0	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001507	HP:0001507	Growth abnormality	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0001507	HP:0001507	Growth abnormality	0	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0001507	HP:0001507	Growth abnormality	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0001507	Growth abnormality	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001507	HP:0001507	Growth abnormality	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			52
HP:0001507	HP:0001507	Growth abnormality	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0001507	HP:0001507	Growth abnormality	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0001507	HP:0001507	Growth abnormality	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0001507	HP:0001507	Growth abnormality	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001507	HP:0001507	Growth abnormality	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0001507	HP:0001507	Growth abnormality	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0001507	HP:0001507	Growth abnormality	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0001507	HP:0001507	Growth abnormality	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001507	HP:0001507	Growth abnormality	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0001507	HP:0001507	Growth abnormality	0	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB			50
HP:0001507	HP:0001507	Growth abnormality	0	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II			50
HP:0001507	HP:0001507	Growth abnormality	0	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV			50
HP:0001507	HP:0001507	Growth abnormality	0	GHR CL E G H	2690	4263	OMIM:604271	Growth hormone insensitivity, partial			98
HP:0001507	HP:0001507	Growth abnormality	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0001507	Growth abnormality	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome			98
HP:0001507	HP:0001507	Growth abnormality	0	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency			98
HP:0001507	HP:0001507	Growth abnormality	0	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0001507	HP:0001507	Growth abnormality	0	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0001507	HP:0001507	Growth abnormality	0	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial			37
HP:0001507	HP:0001507	Growth abnormality	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0001507	HP:0001507	Growth abnormality	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0001507	HP:0001507	Growth abnormality	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001507	HP:0001507	Growth abnormality	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001507	HP:0001507	Growth abnormality	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0001507	HP:0001507	Growth abnormality	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0001507	HP:0001507	Growth abnormality	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001507	HP:0001507	Growth abnormality	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0001507	HP:0001507	Growth abnormality	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001507	HP:0001507	Growth abnormality	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0001507	HP:0001507	Growth abnormality	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0001507	HP:0001507	Growth abnormality	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0001507	HP:0001507	Growth abnormality	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0001507	HP:0001507	Growth abnormality	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0001507	HP:0001507	Growth abnormality	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0001507	HP:0001507	Growth abnormality	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001507	HP:0001507	Growth abnormality	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001507	HP:0001507	Growth abnormality	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001507	HP:0001507	Growth abnormality	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001507	HP:0001507	Growth abnormality	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001507	HP:0001507	Growth abnormality	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0001507	HP:0001507	Growth abnormality	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0001507	HP:0001507	Growth abnormality	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001507	HP:0001507	Growth abnormality	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0001507	HP:0001507	Growth abnormality	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0001507	HP:0001507	Growth abnormality	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001507	HP:0001507	Growth abnormality	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001507	HP:0001507	Growth abnormality	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0001507	HP:0001507	Growth abnormality	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0001507	HP:0001507	Growth abnormality	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0001507	HP:0001507	Growth abnormality	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0001507	HP:0001507	Growth abnormality	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0001507	Growth abnormality	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0001507	HP:0001507	Growth abnormality	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0001507	HP:0001507	Growth abnormality	0	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2			16
HP:0001507	HP:0001507	Growth abnormality	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001507	HP:0001507	Growth abnormality	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001507	HP:0001507	Growth abnormality	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent		101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0001507	HP:0001507	Growth abnormality	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB			1
HP:0001507	HP:0001507	Growth abnormality	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001507	HP:0001507	Growth abnormality	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001507	HP:0001507	Growth abnormality	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0001507	HP:0001507	Growth abnormality	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001507	HP:0001507	Growth abnormality	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0001507	HP:0001507	Growth abnormality	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001507	HP:0001507	Growth abnormality	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0001507	HP:0001507	Growth abnormality	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0001507	HP:0001507	Growth abnormality	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0001507	HP:0001507	Growth abnormality	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0001507	HP:0001507	Growth abnormality	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0001507	HP:0001507	Growth abnormality	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0001507	HP:0001507	Growth abnormality	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0001507	HP:0001507	Growth abnormality	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001507	HP:0001507	Growth abnormality	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0001507	HP:0001507	Growth abnormality	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001507	HP:0001507	Growth abnormality	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001507	HP:0001507	Growth abnormality	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001507	HP:0001507	Growth abnormality	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001507	HP:0001507	Growth abnormality	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001507	HP:0001507	Growth abnormality	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001507	HP:0001507	Growth abnormality	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001507	HP:0001507	Growth abnormality	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0001507	HP:0001507	Growth abnormality	0	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0001507	Growth abnormality	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0001507	HP:0001507	Growth abnormality	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0001507	HP:0001507	Growth abnormality	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0001507	HP:0001507	Growth abnormality	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0001507	HP:0001507	Growth abnormality	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0001507	HP:0001507	Growth abnormality	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0001507	Growth abnormality	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0001507	Growth abnormality	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0001507	HP:0001507	Growth abnormality	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0001507	Growth abnormality	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001507	HP:0001507	Growth abnormality	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001507	HP:0001507	Growth abnormality	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0001507	HP:0001507	Growth abnormality	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001507	HP:0001507	Growth abnormality	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0001507	HP:0001507	Growth abnormality	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0001507	HP:0001507	Growth abnormality	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0001507	HP:0001507	Growth abnormality	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0001507	Growth abnormality	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0001507	HP:0001507	Growth abnormality	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001507	HP:0001507	Growth abnormality	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001507	HP:0001507	Growth abnormality	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0001507	HP:0001507	Growth abnormality	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001507	Growth abnormality	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001507	HP:0001507	Growth abnormality	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0001507	Growth abnormality	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001507	HP:0001507	Growth abnormality	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001507	HP:0001507	Growth abnormality	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001507	HP:0001507	Growth abnormality	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001507	HP:0001507	Growth abnormality	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0001507	HP:0001507	Growth abnormality	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0001507	HP:0001507	Growth abnormality	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0001507	HP:0001507	Growth abnormality	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0001507	HP:0001507	Growth abnormality	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001507	HP:0001507	Growth abnormality	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001507	HP:0001507	Growth abnormality	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0001507	HP:0001507	Growth abnormality	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0001507	HP:0001507	Growth abnormality	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0001507	HP:0001507	Growth abnormality	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0001507	HP:0001507	Growth abnormality	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001507	HP:0001507	Growth abnormality	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0001507	HP:0001507	Growth abnormality	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001507	HP:0001507	Growth abnormality	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0001507	HP:0001507	Growth abnormality	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0001507	Growth abnormality	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0001507	HP:0001507	Growth abnormality	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001507	HP:0001507	Growth abnormality	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001507	HP:0001507	Growth abnormality	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0001507	HP:0001507	Growth abnormality	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001507	HP:0001507	Growth abnormality	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001507	HP:0001507	Growth abnormality	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0001507	HP:0001507	Growth abnormality	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0001507	HP:0001507	Growth abnormality	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001507	HP:0001507	Growth abnormality	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0001507	HP:0001507	Growth abnormality	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0001507	Growth abnormality	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0001507	Growth abnormality	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0001507	Growth abnormality	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0001507	Growth abnormality	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0001507	HP:0001507	Growth abnormality	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001507	HP:0001507	Growth abnormality	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001507	HP:0001507	Growth abnormality	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001507	HP:0001507	Growth abnormality	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001507	HP:0001507	Growth abnormality	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001507	HP:0001507	Growth abnormality	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001507	HP:0001507	Growth abnormality	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0001507	HP:0001507	Growth abnormality	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001507	HP:0001507	Growth abnormality	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0001507	Growth abnormality	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0001507	HP:0001507	Growth abnormality	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0001507	HP:0001507	Growth abnormality	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0001507	HP:0001507	Growth abnormality	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001507	HP:0001507	Growth abnormality	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001507	HP:0001507	Growth abnormality	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0001507	HP:0001507	Growth abnormality	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0001507	Growth abnormality	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0001507	HP:0001507	Growth abnormality	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0001507	HP:0001507	Growth abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0001507	HP:0001507	Growth abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0001507	HP:0001507	Growth abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0001507	HP:0001507	Growth abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0001507	HP:0001507	Growth abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0001507	HP:0001507	Growth abnormality	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia			21
HP:0001507	HP:0001507	Growth abnormality	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0001507	HP:0001507	Growth abnormality	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0001507	HP:0001507	Growth abnormality	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0001507	HP:0001507	Growth abnormality	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0001507	HP:0001507	Growth abnormality	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.		77
HP:0001507	HP:0001507	Growth abnormality	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0001507	HP:0001507	Growth abnormality	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0001507	HP:0001507	Growth abnormality	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0001507	HP:0001507	Growth abnormality	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0001507	HP:0001507	Growth abnormality	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001507	HP:0001507	Growth abnormality	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0001507	HP:0001507	Growth abnormality	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0001507	HP:0001507	Growth abnormality	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0001507	HP:0001507	Growth abnormality	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001507	HP:0001507	Growth abnormality	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0001507	HP:0001507	Growth abnormality	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001507	HP:0001507	Growth abnormality	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0001507	HP:0001507	Growth abnormality	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease			1
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid			2
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0001507	HP:0001507	Growth abnormality	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0001507	HP:0001507	Growth abnormality	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0001507	HP:0001507	Growth abnormality	0	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0001507	Growth abnormality	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0001507	Growth abnormality	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001507	HP:0001507	Growth abnormality	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0001507	HP:0001507	Growth abnormality	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001507	HP:0001507	Growth abnormality	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0001507	Growth abnormality	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0001507	HP:0001507	Growth abnormality	0	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent			161
HP:0001507	HP:0001507	Growth abnormality	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0001507	HP:0001507	Growth abnormality	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0001507	HP:0001507	Growth abnormality	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0001507	HP:0001507	Growth abnormality	0	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent			90
HP:0001507	HP:0001507	Growth abnormality	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0001507	HP:0001507	Growth abnormality	0	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent			138
HP:0001507	HP:0001507	Growth abnormality	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0001507	HP:0001507	Growth abnormality	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0001507	HP:0001507	Growth abnormality	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0001507	HP:0001507	Growth abnormality	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001507	HP:0001507	Growth abnormality	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001507	HP:0001507	Growth abnormality	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001507	HP:0001507	Growth abnormality	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001507	HP:0001507	Growth abnormality	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0001507	HP:0001507	Growth abnormality	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0001507	HP:0001507	Growth abnormality	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0001507	HP:0001507	Growth abnormality	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E			25
HP:0001507	HP:0001507	Growth abnormality	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0001507	HP:0001507	Growth abnormality	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001507	HP:0001507	Growth abnormality	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0001507	HP:0001507	Growth abnormality	0	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA			23
HP:0001507	HP:0001507	Growth abnormality	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001507	HP:0001507	Growth abnormality	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0001507	HP:0001507	Growth abnormality	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001507	HP:0001507	Growth abnormality	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001507	HP:0001507	Growth abnormality	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001507	HP:0001507	Growth abnormality	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0001507	HP:0001507	Growth abnormality	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0001507	HP:0001507	Growth abnormality	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0001507	HP:0001507	Growth abnormality	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001507	HP:0001507	Growth abnormality	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0001507	HP:0001507	Growth abnormality	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2			5
HP:0001507	HP:0001507	Growth abnormality	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0001507	HP:0001507	Growth abnormality	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001507	HP:0001507	Growth abnormality	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001507	HP:0001507	Growth abnormality	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0001507	HP:0001507	Growth abnormality	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0001507	HP:0001507	Growth abnormality	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0001507	HP:0001507	Growth abnormality	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0001507	HP:0001507	Growth abnormality	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001507	HP:0001507	Growth abnormality	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0001507	Growth abnormality	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0001507	Growth abnormality	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001507	HP:0001507	Growth abnormality	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0001507	HP:0001507	Growth abnormality	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0001507	HP:0001507	Growth abnormality	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0001507	HP:0001507	Growth abnormality	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0001507	HP:0001507	Growth abnormality	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0001507	HP:0001507	Growth abnormality	0	HYAL1 CL E G H	3373	5320	ORPHA:67041	Hyaluronidase deficiency			28
HP:0001507	HP:0001507	Growth abnormality	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0001507	HP:0001507	Growth abnormality	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001507	HP:0001507	Growth abnormality	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0001507	HP:0001507	Growth abnormality	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001507	HP:0001507	Growth abnormality	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0001507	Growth abnormality	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001507	HP:0001507	Growth abnormality	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0001507	HP:0001507	Growth abnormality	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0001507	HP:0001507	Growth abnormality	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0001507	HP:0001507	Growth abnormality	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0001507	HP:0001507	Growth abnormality	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0001507	HP:0001507	Growth abnormality	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0001507	Growth abnormality	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0001507	Growth abnormality	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0001507	HP:0001507	Growth abnormality	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0001507	Growth abnormality	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0001507	HP:0001507	Growth abnormality	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0001507	HP:0001507	Growth abnormality	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0001507	HP:0001507	Growth abnormality	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0001507	HP:0001507	Growth abnormality	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0001507	HP:0001507	Growth abnormality	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001507	HP:0001507	Growth abnormality	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0001507	HP:0001507	Growth abnormality	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0001507	HP:0001507	Growth abnormality	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0001507	HP:0001507	Growth abnormality	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001507	HP:0001507	Growth abnormality	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001507	HP:0001507	Growth abnormality	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0001507	HP:0001507	Growth abnormality	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0001507	HP:0001507	Growth abnormality	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0001507	HP:0001507	Growth abnormality	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0001507	HP:0001507	Growth abnormality	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0001507	HP:0001507	Growth abnormality	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001507	HP:0001507	Growth abnormality	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome			148
HP:0001507	HP:0001507	Growth abnormality	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0001507	HP:0001507	Growth abnormality	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0001507	Growth abnormality	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0001507	HP:0001507	Growth abnormality	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001507	HP:0001507	Growth abnormality	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome			48
HP:0001507	HP:0001507	Growth abnormality	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0001507	Growth abnormality	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001507	HP:0001507	Growth abnormality	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19			1
HP:0001507	HP:0001507	Growth abnormality	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0001507	HP:0001507	Growth abnormality	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0001507	HP:0001507	Growth abnormality	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0001507	HP:0001507	Growth abnormality	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0001507	HP:0001507	Growth abnormality	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0001507	HP:0001507	Growth abnormality	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0001507	HP:0001507	Growth abnormality	0	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2			65
HP:0001507	HP:0001507	Growth abnormality	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001507	HP:0001507	Growth abnormality	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0001507	Growth abnormality	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001507	HP:0001507	Growth abnormality	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001507	HP:0001507	Growth abnormality	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0001507	HP:0001507	Growth abnormality	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0001507	HP:0001507	Growth abnormality	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001507	HP:0001507	Growth abnormality	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0001507	HP:0001507	Growth abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0001507	HP:0001507	Growth abnormality	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001507	HP:0001507	Growth abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001507	HP:0001507	Growth abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0001507	HP:0001507	Growth abnormality	0	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0001507	Growth abnormality	0	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0001507	HP:0001507	Growth abnormality	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0001507	HP:0001507	Growth abnormality	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0001507	HP:0001507	Growth abnormality	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0001507	HP:0001507	Growth abnormality	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0001507	HP:0001507	Growth abnormality	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0001507	HP:0001507	Growth abnormality	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0001507	HP:0001507	Growth abnormality	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001507	HP:0001507	Growth abnormality	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0001507	HP:0001507	Growth abnormality	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement			12
HP:0001507	HP:0001507	Growth abnormality	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0001507	Growth abnormality	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0001507	Growth abnormality	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1			44
HP:0001507	HP:0001507	Growth abnormality	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1			44
HP:0001507	HP:0001507	Growth abnormality	0	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15			4
HP:0001507	HP:0001507	Growth abnormality	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0001507	HP:0001507	Growth abnormality	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0001507	HP:0001507	Growth abnormality	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0001507	HP:0001507	Growth abnormality	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0001507	Growth abnormality	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28			64
HP:0001507	HP:0001507	Growth abnormality	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0001507	HP:0001507	Growth abnormality	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001507	HP:0001507	Growth abnormality	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001507	HP:0001507	Growth abnormality	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0001507	HP:0001507	Growth abnormality	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001507	HP:0001507	Growth abnormality	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11			3
HP:0001507	HP:0001507	Growth abnormality	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0001507	HP:0001507	Growth abnormality	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0001507	HP:0001507	Growth abnormality	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001507	HP:0001507	Growth abnormality	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0001507	Growth abnormality	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0001507	Growth abnormality	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001507	HP:0001507	Growth abnormality	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0001507	Growth abnormality	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0001507	Growth abnormality	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001507	HP:0001507	Growth abnormality	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked			48
HP:0001507	HP:0001507	Growth abnormality	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0001507	HP:0001507	Growth abnormality	0	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent			2
HP:0001507	HP:0001507	Growth abnormality	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			2
HP:0001507	HP:0001507	Growth abnormality	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001507	HP:0001507	Growth abnormality	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001507	HP:0001507	Growth abnormality	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001507	HP:0001507	Growth abnormality	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0001507	HP:0001507	Growth abnormality	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0001507	HP:0001507	Growth abnormality	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0001507	HP:0001507	Growth abnormality	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0001507	HP:0001507	Growth abnormality	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0001507	HP:0001507	Growth abnormality	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0001507	HP:0001507	Growth abnormality	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0001507	HP:0001507	Growth abnormality	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0001507	HP:0001507	Growth abnormality	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0001507	HP:0001507	Growth abnormality	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001507	HP:0001507	Growth abnormality	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001507	HP:0001507	Growth abnormality	0	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0001507	HP:0001507	Growth abnormality	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0001507	HP:0001507	Growth abnormality	0	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0001507	HP:0001507	Growth abnormality	0	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0001507	HP:0001507	Growth abnormality	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0001507	HP:0001507	Growth abnormality	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0001507	HP:0001507	Growth abnormality	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0001507	HP:0001507	Growth abnormality	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0001507	HP:0001507	Growth abnormality	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001507	HP:0001507	Growth abnormality	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001507	HP:0001507	Growth abnormality	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0001507	HP:0001507	Growth abnormality	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001507	HP:0001507	Growth abnormality	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0001507	HP:0001507	Growth abnormality	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0001507	HP:0001507	Growth abnormality	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001507	HP:0001507	Growth abnormality	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001507	Growth abnormality	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0001507	HP:0001507	Growth abnormality	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001507	HP:0001507	Growth abnormality	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0001507	HP:0001507	Growth abnormality	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001507	HP:0001507	Growth abnormality	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001507	HP:0001507	Growth abnormality	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0001507	HP:0001507	Growth abnormality	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001507	HP:0001507	Growth abnormality	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001507	HP:0001507	Growth abnormality	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0001507	HP:0001507	Growth abnormality	0	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent			5
HP:0001507	HP:0001507	Growth abnormality	0	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0001507	Growth abnormality	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0001507	HP:0001507	Growth abnormality	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0001507	HP:0001507	Growth abnormality	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0001507	Growth abnormality	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0001507	HP:0001507	Growth abnormality	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001507	HP:0001507	Growth abnormality	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0001507	HP:0001507	Growth abnormality	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0001507	HP:0001507	Growth abnormality	0	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4			130
HP:0001507	HP:0001507	Growth abnormality	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001507	HP:0001507	Growth abnormality	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0001507	HP:0001507	Growth abnormality	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0001507	HP:0001507	Growth abnormality	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0001507	HP:0001507	Growth abnormality	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0001507	HP:0001507	Growth abnormality	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0001507	HP:0001507	Growth abnormality	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0001507	HP:0001507	Growth abnormality	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0001507	HP:0001507	Growth abnormality	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0001507	HP:0001507	Growth abnormality	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0001507	HP:0001507	Growth abnormality	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0001507	HP:0001507	Growth abnormality	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0001507	HP:0001507	Growth abnormality	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001507	HP:0001507	Growth abnormality	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001507	HP:0001507	Growth abnormality	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001507	HP:0001507	Growth abnormality	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001507	HP:0001507	Growth abnormality	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001507	HP:0001507	Growth abnormality	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001507	HP:0001507	Growth abnormality	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0001507	HP:0001507	Growth abnormality	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0001507	HP:0001507	Growth abnormality	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0001507	HP:0001507	Growth abnormality	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001507	HP:0001507	Growth abnormality	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001507	HP:0001507	Growth abnormality	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0001507	Growth abnormality	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0001507	HP:0001507	Growth abnormality	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001507	HP:0001507	Growth abnormality	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0001507	HP:0001507	Growth abnormality	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent			127
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0001507	HP:0001507	Growth abnormality	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0001507	Growth abnormality	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001507	HP:0001507	Growth abnormality	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0001507	HP:0001507	Growth abnormality	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001507	HP:0001507	Growth abnormality	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0001507	HP:0001507	Growth abnormality	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001507	HP:0001507	Growth abnormality	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0001507	HP:0001507	Growth abnormality	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0001507	HP:0001507	Growth abnormality	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0001507	HP:0001507	Growth abnormality	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001507	HP:0001507	Growth abnormality	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0001507	Growth abnormality	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0001507	HP:0001507	Growth abnormality	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0001507	HP:0001507	Growth abnormality	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0001507	Growth abnormality	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0001507	HP:0001507	Growth abnormality	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0001507	HP:0001507	Growth abnormality	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0001507	HP:0001507	Growth abnormality	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0001507	Growth abnormality	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001507	HP:0001507	Growth abnormality	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001507	HP:0001507	Growth abnormality	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0001507	HP:0001507	Growth abnormality	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0001507	HP:0001507	Growth abnormality	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0001507	HP:0001507	Growth abnormality	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001507	HP:0001507	Growth abnormality	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0001507	HP:0001507	Growth abnormality	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0001507	HP:0001507	Growth abnormality	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0001507	HP:0001507	Growth abnormality	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001507	HP:0001507	Growth abnormality	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0001507	HP:0001507	Growth abnormality	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0001507	HP:0001507	Growth abnormality	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0001507	HP:0001507	Growth abnormality	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3			15
HP:0001507	HP:0001507	Growth abnormality	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001507	HP:0001507	Growth abnormality	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0001507	HP:0001507	Growth abnormality	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0001507	HP:0001507	Growth abnormality	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0001507	HP:0001507	Growth abnormality	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0001507	HP:0001507	Growth abnormality	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0001507	HP:0001507	Growth abnormality	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0001507	Growth abnormality	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0001507	HP:0001507	Growth abnormality	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central			14
HP:0001507	HP:0001507	Growth abnormality	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0001507	HP:0001507	Growth abnormality	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0001507	Growth abnormality	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001507	HP:0001507	Growth abnormality	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0001507	HP:0001507	Growth abnormality	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001507	HP:0001507	Growth abnormality	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0001507	HP:0001507	Growth abnormality	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001507	HP:0001507	Growth abnormality	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0001507	Growth abnormality	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0001507	Growth abnormality	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0001507	HP:0001507	Growth abnormality	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0001507	HP:0001507	Growth abnormality	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0001507	HP:0001507	Growth abnormality	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0001507	HP:0001507	Growth abnormality	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0001507	HP:0001507	Growth abnormality	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0001507	HP:0001507	Growth abnormality	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001507	HP:0001507	Growth abnormality	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0001507	HP:0001507	Growth abnormality	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0001507	HP:0001507	Growth abnormality	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0001507	HP:0001507	Growth abnormality	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0001507	HP:0001507	Growth abnormality	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0001507	HP:0001507	Growth abnormality	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0001507	HP:0001507	Growth abnormality	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0001507	HP:0001507	Growth abnormality	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0001507	HP:0001507	Growth abnormality	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0001507	HP:0001507	Growth abnormality	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0001507	HP:0001507	Growth abnormality	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0001507	HP:0001507	Growth abnormality	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0001507	HP:0001507	Growth abnormality	0	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0001507	HP:0001507	Growth abnormality	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0001507	HP:0001507	Growth abnormality	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0001507	HP:0001507	Growth abnormality	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0001507	HP:0001507	Growth abnormality	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001507	HP:0001507	Growth abnormality	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0001507	HP:0001507	Growth abnormality	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0001507	HP:0001507	Growth abnormality	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001507	Growth abnormality	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0001507	HP:0001507	Growth abnormality	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0001507	HP:0001507	Growth abnormality	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0001507	HP:0001507	Growth abnormality	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0001507	HP:0001507	Growth abnormality	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0001507	HP:0001507	Growth abnormality	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001507	HP:0001507	Growth abnormality	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0001507	HP:0001507	Growth abnormality	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0001507	HP:0001507	Growth abnormality	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0001507	HP:0001507	Growth abnormality	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0001507	HP:0001507	Growth abnormality	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0001507	HP:0001507	Growth abnormality	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0001507	HP:0001507	Growth abnormality	0	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein			1
HP:0001507	HP:0001507	Growth abnormality	0	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency			1
HP:0001507	HP:0001507	Growth abnormality	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0001507	HP:0001507	Growth abnormality	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001507	HP:0001507	Growth abnormality	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001507	HP:0001507	Growth abnormality	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001507	HP:0001507	Growth abnormality	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0001507	HP:0001507	Growth abnormality	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001507	HP:0001507	Growth abnormality	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001507	HP:0001507	Growth abnormality	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001507	HP:0001507	Growth abnormality	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0001507	Growth abnormality	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0001507	Growth abnormality	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22			1
HP:0001507	HP:0001507	Growth abnormality	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001507	HP:0001507	Growth abnormality	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction			47
HP:0001507	HP:0001507	Growth abnormality	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0001507	HP:0001507	Growth abnormality	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0001507	HP:0001507	Growth abnormality	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0001507	HP:0001507	Growth abnormality	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0001507	HP:0001507	Growth abnormality	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0001507	HP:0001507	Growth abnormality	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001507	HP:0001507	Growth abnormality	0	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL			1
HP:0001507	HP:0001507	Growth abnormality	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0001507	HP:0001507	Growth abnormality	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty			67
HP:0001507	HP:0001507	Growth abnormality	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0001507	HP:0001507	Growth abnormality	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0001507	HP:0001507	Growth abnormality	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0001507	HP:0001507	Growth abnormality	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0001507	HP:0001507	Growth abnormality	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0001507	HP:0001507	Growth abnormality	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0001507	HP:0001507	Growth abnormality	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0001507	HP:0001507	Growth abnormality	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0001507	HP:0001507	Growth abnormality	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0001507	HP:0001507	Growth abnormality	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001507	HP:0001507	Growth abnormality	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0001507	HP:0001507	Growth abnormality	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0001507	HP:0001507	Growth abnormality	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0001507	HP:0001507	Growth abnormality	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001507	HP:0001507	Growth abnormality	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0001507	HP:0001507	Growth abnormality	0	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent			35
HP:0001507	HP:0001507	Growth abnormality	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001507	HP:0001507	Growth abnormality	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0001507	HP:0001507	Growth abnormality	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001507	HP:0001507	Growth abnormality	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			106
HP:0001507	HP:0001507	Growth abnormality	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0001507	HP:0001507	Growth abnormality	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001507	HP:0001507	Growth abnormality	0	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0001507	HP:0001507	Growth abnormality	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001507	HP:0001507	Growth abnormality	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0001507	HP:0001507	Growth abnormality	0	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease			165
HP:0001507	HP:0001507	Growth abnormality	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001507	HP:0001507	Growth abnormality	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10			6
HP:0001507	HP:0001507	Growth abnormality	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0001507	HP:0001507	Growth abnormality	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001507	HP:0001507	Growth abnormality	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001507	HP:0001507	Growth abnormality	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0001507	HP:0001507	Growth abnormality	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001507	HP:0001507	Growth abnormality	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001507	HP:0001507	Growth abnormality	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0001507	HP:0001507	Growth abnormality	0	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0001507	HP:0001507	Growth abnormality	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0001507	HP:0001507	Growth abnormality	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0001507	HP:0001507	Growth abnormality	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0001507	HP:0001507	Growth abnormality	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0001507	HP:0001507	Growth abnormality	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0001507	HP:0001507	Growth abnormality	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001507	HP:0001507	Growth abnormality	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0001507	HP:0001507	Growth abnormality	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0001507	HP:0001507	Growth abnormality	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0001507	HP:0001507	Growth abnormality	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001507	HP:0001507	Growth abnormality	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0001507	HP:0001507	Growth abnormality	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0001507	HP:0001507	Growth abnormality	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0001507	HP:0001507	Growth abnormality	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3			123
HP:0001507	HP:0001507	Growth abnormality	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0001507	HP:0001507	Growth abnormality	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0001507	HP:0001507	Growth abnormality	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0001507	HP:0001507	Growth abnormality	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0001507	HP:0001507	Growth abnormality	0	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0001507	HP:0001507	Growth abnormality	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0001507	HP:0001507	Growth abnormality	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0001507	HP:0001507	Growth abnormality	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001507	HP:0001507	Growth abnormality	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001507	HP:0001507	Growth abnormality	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001507	HP:0001507	Growth abnormality	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001507	HP:0001507	Growth abnormality	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001507	HP:0001507	Growth abnormality	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001507	HP:0001507	Growth abnormality	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001507	HP:0001507	Growth abnormality	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V			1
HP:0001507	HP:0001507	Growth abnormality	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001507	HP:0001507	Growth abnormality	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001507	HP:0001507	Growth abnormality	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0001507	HP:0001507	Growth abnormality	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0001507	HP:0001507	Growth abnormality	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0001507	HP:0001507	Growth abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001507	HP:0001507	Growth abnormality	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0001507	Growth abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001507	HP:0001507	Growth abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001507	HP:0001507	Growth abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001507	HP:0001507	Growth abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001507	HP:0001507	Growth abnormality	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001507	HP:0001507	Growth abnormality	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0001507	HP:0001507	Growth abnormality	0	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12			6
HP:0001507	HP:0001507	Growth abnormality	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0001507	HP:0001507	Growth abnormality	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias			5
HP:0001507	HP:0001507	Growth abnormality	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0001507	HP:0001507	Growth abnormality	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0001507	Growth abnormality	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0001507	HP:0001507	Growth abnormality	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0001507	HP:0001507	Growth abnormality	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001507	HP:0001507	Growth abnormality	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001507	HP:0001507	Growth abnormality	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001507	HP:0001507	Growth abnormality	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001507	HP:0001507	Growth abnormality	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001507	HP:0001507	Growth abnormality	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0001507	HP:0001507	Growth abnormality	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0001507	HP:0001507	Growth abnormality	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001507	HP:0001507	Growth abnormality	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0001507	HP:0001507	Growth abnormality	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001507	HP:0001507	Growth abnormality	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001507	HP:0001507	Growth abnormality	0	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0001507	Growth abnormality	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001507	HP:0001507	Growth abnormality	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0001507	Growth abnormality	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0001507	HP:0001507	Growth abnormality	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0001507	HP:0001507	Growth abnormality	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001507	HP:0001507	Growth abnormality	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0001507	HP:0001507	Growth abnormality	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0001507	HP:0001507	Growth abnormality	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0001507	HP:0001507	Growth abnormality	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0001507	HP:0001507	Growth abnormality	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0001507	HP:0001507	Growth abnormality	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0001507	HP:0001507	Growth abnormality	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0001507	HP:0001507	Growth abnormality	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0001507	HP:0001507	Growth abnormality	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type			32
HP:0001507	HP:0001507	Growth abnormality	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0001507	HP:0001507	Growth abnormality	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0001507	HP:0001507	Growth abnormality	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0001507	HP:0001507	Growth abnormality	0	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency			54
HP:0001507	HP:0001507	Growth abnormality	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0001507	HP:0001507	Growth abnormality	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0001507	HP:0001507	Growth abnormality	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0001507	HP:0001507	Growth abnormality	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0001507	HP:0001507	Growth abnormality	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0001507	HP:0001507	Growth abnormality	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0001507	HP:0001507	Growth abnormality	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0001507	HP:0001507	Growth abnormality	0	MC3R CL E G H	4159	6931	OMIM:602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9			2
HP:0001507	HP:0001507	Growth abnormality	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0001507	HP:0001507	Growth abnormality	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0001507	HP:0001507	Growth abnormality	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0001507	HP:0001507	Growth abnormality	0	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0001507	HP:0001507	Growth abnormality	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0001507	HP:0001507	Growth abnormality	0	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0001507	HP:0001507	Growth abnormality	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0001507	HP:0001507	Growth abnormality	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001507	HP:0001507	Growth abnormality	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0001507	Growth abnormality	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0001507	HP:0001507	Growth abnormality	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001507	Growth abnormality	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4			4
HP:0001507	HP:0001507	Growth abnormality	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0001507	HP:0001507	Growth abnormality	0	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1			155
HP:0001507	HP:0001507	Growth abnormality	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001507	HP:0001507	Growth abnormality	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0001507	HP:0001507	Growth abnormality	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0001507	HP:0001507	Growth abnormality	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0001507	HP:0001507	Growth abnormality	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0001507	HP:0001507	Growth abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0001507	HP:0001507	Growth abnormality	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0001507	HP:0001507	Growth abnormality	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001507	HP:0001507	Growth abnormality	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001507	HP:0001507	Growth abnormality	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001507	HP:0001507	Growth abnormality	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0001507	HP:0001507	Growth abnormality	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0001507	HP:0001507	Growth abnormality	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0001507	HP:0001507	Growth abnormality	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001507	HP:0001507	Growth abnormality	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0001507	HP:0001507	Growth abnormality	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0001507	HP:0001507	Growth abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0001507	Growth abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001507	HP:0001507	Growth abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001507	Growth abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001507	Growth abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0001507	Growth abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0001507	Growth abnormality	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001507	HP:0001507	Growth abnormality	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001507	HP:0001507	Growth abnormality	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001507	HP:0001507	Growth abnormality	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0001507	HP:0001507	Growth abnormality	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0001507	HP:0001507	Growth abnormality	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001507	HP:0001507	Growth abnormality	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0001507	HP:0001507	Growth abnormality	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0001507	HP:0001507	Growth abnormality	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001507	HP:0001507	Growth abnormality	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0001507	HP:0001507	Growth abnormality	0	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0001507	HP:0001507	Growth abnormality	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0001507	Growth abnormality	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001507	Growth abnormality	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001507	HP:0001507	Growth abnormality	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001507	HP:0001507	Growth abnormality	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0001507	HP:0001507	Growth abnormality	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0001507	HP:0001507	Growth abnormality	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0001507	HP:0001507	Growth abnormality	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0001507	HP:0001507	Growth abnormality	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001507	HP:0001507	Growth abnormality	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001507	HP:0001507	Growth abnormality	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0001507	HP:0001507	Growth abnormality	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0001507	Growth abnormality	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001507	HP:0001507	Growth abnormality	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001507	HP:0001507	Growth abnormality	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0001507	HP:0001507	Growth abnormality	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001507	Growth abnormality	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001507	HP:0001507	Growth abnormality	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0001507	HP:0001507	Growth abnormality	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0001507	HP:0001507	Growth abnormality	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0001507	HP:0001507	Growth abnormality	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0001507	HP:0001507	Growth abnormality	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001507	HP:0001507	Growth abnormality	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001507	Growth abnormality	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0001507	HP:0001507	Growth abnormality	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0001507	HP:0001507	Growth abnormality	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001507	HP:0001507	Growth abnormality	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0001507	HP:0001507	Growth abnormality	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0001507	HP:0001507	Growth abnormality	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0001507	HP:0001507	Growth abnormality	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001507	HP:0001507	Growth abnormality	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0001507	HP:0001507	Growth abnormality	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0001507	HP:0001507	Growth abnormality	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001507	HP:0001507	Growth abnormality	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001507	HP:0001507	Growth abnormality	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0001507	HP:0001507	Growth abnormality	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0001507	HP:0001507	Growth abnormality	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0001507	HP:0001507	Growth abnormality	0	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia			52
HP:0001507	HP:0001507	Growth abnormality	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0001507	Growth abnormality	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0001507	Growth abnormality	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0001507	Growth abnormality	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0001507	Growth abnormality	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001507	HP:0001507	Growth abnormality	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001507	HP:0001507	Growth abnormality	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia			31
HP:0001507	HP:0001507	Growth abnormality	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001507	HP:0001507	Growth abnormality	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001507	HP:0001507	Growth abnormality	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0001507	HP:0001507	Growth abnormality	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome			17
HP:0001507	HP:0001507	Growth abnormality	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0001507	HP:0001507	Growth abnormality	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0001507	HP:0001507	Growth abnormality	0	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0001507	HP:0001507	Growth abnormality	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0001507	Growth abnormality	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0001507	HP:0001507	Growth abnormality	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0001507	HP:0001507	Growth abnormality	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0001507	HP:0001507	Growth abnormality	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0001507	HP:0001507	Growth abnormality	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0001507	HP:0001507	Growth abnormality	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0001507	HP:0001507	Growth abnormality	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0001507	HP:0001507	Growth abnormality	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0001507	HP:0001507	Growth abnormality	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001507	HP:0001507	Growth abnormality	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0001507	HP:0001507	Growth abnormality	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0001507	HP:0001507	Growth abnormality	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0001507	HP:0001507	Growth abnormality	0	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18			1
HP:0001507	HP:0001507	Growth abnormality	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001507	HP:0001507	Growth abnormality	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001507	HP:0001507	Growth abnormality	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0001507	HP:0001507	Growth abnormality	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0001507	HP:0001507	Growth abnormality	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001507	HP:0001507	Growth abnormality	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001507	HP:0001507	Growth abnormality	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001507	HP:0001507	Growth abnormality	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0001507	HP:0001507	Growth abnormality	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0001507	HP:0001507	Growth abnormality	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0001507	HP:0001507	Growth abnormality	0	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7			25
HP:0001507	HP:0001507	Growth abnormality	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001507	HP:0001507	Growth abnormality	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001507	HP:0001507	Growth abnormality	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0001507	HP:0001507	Growth abnormality	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0001507	Growth abnormality	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0001507	HP:0001507	Growth abnormality	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0001507	HP:0001507	Growth abnormality	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0001507	HP:0001507	Growth abnormality	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0001507	HP:0001507	Growth abnormality	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001507	HP:0001507	Growth abnormality	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0001507	HP:0001507	Growth abnormality	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001507	HP:0001507	Growth abnormality	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001507	HP:0001507	Growth abnormality	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001507	HP:0001507	Growth abnormality	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0001507	HP:0001507	Growth abnormality	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0001507	HP:0001507	Growth abnormality	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0001507	HP:0001507	Growth abnormality	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001507	HP:0001507	Growth abnormality	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001507	HP:0001507	Growth abnormality	0	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0001507	HP:0001507	Growth abnormality	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0001507	HP:0001507	Growth abnormality	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0001507	HP:0001507	Growth abnormality	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001507	HP:0001507	Growth abnormality	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0001507	HP:0001507	Growth abnormality	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0001507	HP:0001507	Growth abnormality	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001507	HP:0001507	Growth abnormality	0	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1			81
HP:0001507	HP:0001507	Growth abnormality	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001507	HP:0001507	Growth abnormality	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001507	HP:0001507	Growth abnormality	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0001507	HP:0001507	Growth abnormality	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001507	HP:0001507	Growth abnormality	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001507	HP:0001507	Growth abnormality	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0001507	HP:0001507	Growth abnormality	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0001507	Growth abnormality	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0001507	HP:0001507	Growth abnormality	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001507	HP:0001507	Growth abnormality	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001507	HP:0001507	Growth abnormality	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0001507	HP:0001507	Growth abnormality	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001507	HP:0001507	Growth abnormality	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0001507	HP:0001507	Growth abnormality	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0001507	HP:0001507	Growth abnormality	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0001507	HP:0001507	Growth abnormality	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001507	HP:0001507	Growth abnormality	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0001507	HP:0001507	Growth abnormality	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001507	HP:0001507	Growth abnormality	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001507	HP:0001507	Growth abnormality	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001507	HP:0001507	Growth abnormality	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0001507	HP:0001507	Growth abnormality	0	MYH8 CL E G H	4626	7578	ORPHA:3377	Trismus-pseudocamptodactyly syndrome			93
HP:0001507	HP:0001507	Growth abnormality	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001507	HP:0001507	Growth abnormality	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001507	HP:0001507	Growth abnormality	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0001507	HP:0001507	Growth abnormality	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001507	HP:0001507	Growth abnormality	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0001507	HP:0001507	Growth abnormality	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0001507	HP:0001507	Growth abnormality	0	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0001507	HP:0001507	Growth abnormality	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy			192
HP:0001507	HP:0001507	Growth abnormality	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001507	HP:0001507	Growth abnormality	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001507	HP:0001507	Growth abnormality	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0001507	HP:0001507	Growth abnormality	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001507	HP:0001507	Growth abnormality	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001507	HP:0001507	Growth abnormality	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001507	HP:0001507	Growth abnormality	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001507	HP:0001507	Growth abnormality	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0001507	HP:0001507	Growth abnormality	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0001507	HP:0001507	Growth abnormality	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0001507	HP:0001507	Growth abnormality	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001507	HP:0001507	Growth abnormality	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0001507	HP:0001507	Growth abnormality	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0001507	HP:0001507	Growth abnormality	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001507	HP:0001507	Growth abnormality	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0001507	HP:0001507	Growth abnormality	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0001507	HP:0001507	Growth abnormality	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0001507	HP:0001507	Growth abnormality	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0001507	HP:0001507	Growth abnormality	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0001507	HP:0001507	Growth abnormality	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0001507	HP:0001507	Growth abnormality	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001507	HP:0001507	Growth abnormality	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0001507	HP:0001507	Growth abnormality	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0001507	HP:0001507	Growth abnormality	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0001507	HP:0001507	Growth abnormality	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0001507	HP:0001507	Growth abnormality	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0001507	HP:0001507	Growth abnormality	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001507	HP:0001507	Growth abnormality	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0001507	HP:0001507	Growth abnormality	0	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0001507	HP:0001507	Growth abnormality	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive			1
HP:0001507	HP:0001507	Growth abnormality	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0001507	HP:0001507	Growth abnormality	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001507	HP:0001507	Growth abnormality	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001507	Growth abnormality	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001507	Growth abnormality	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001507	Growth abnormality	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0001507	HP:0001507	Growth abnormality	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0001507	HP:0001507	Growth abnormality	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0001507	HP:0001507	Growth abnormality	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0001507	HP:0001507	Growth abnormality	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001507	HP:0001507	Growth abnormality	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001507	HP:0001507	Growth abnormality	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001507	HP:0001507	Growth abnormality	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001507	HP:0001507	Growth abnormality	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0001507	Growth abnormality	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0001507	HP:0001507	Growth abnormality	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0001507	HP:0001507	Growth abnormality	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001507	HP:0001507	Growth abnormality	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001507	Growth abnormality	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0001507	HP:0001507	Growth abnormality	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001507	HP:0001507	Growth abnormality	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001507	HP:0001507	Growth abnormality	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001507	HP:0001507	Growth abnormality	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001507	HP:0001507	Growth abnormality	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0001507	Growth abnormality	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0001507	Growth abnormality	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0001507	HP:0001507	Growth abnormality	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001507	HP:0001507	Growth abnormality	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001507	HP:0001507	Growth abnormality	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001507	HP:0001507	Growth abnormality	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001507	Growth abnormality	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001507	HP:0001507	Growth abnormality	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0001507	HP:0001507	Growth abnormality	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0001507	HP:0001507	Growth abnormality	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001507	HP:0001507	Growth abnormality	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0001507	Growth abnormality	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001507	HP:0001507	Growth abnormality	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001507	HP:0001507	Growth abnormality	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0001507	HP:0001507	Growth abnormality	0	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			32
HP:0001507	HP:0001507	Growth abnormality	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0001507	HP:0001507	Growth abnormality	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0001507	HP:0001507	Growth abnormality	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0001507	HP:0001507	Growth abnormality	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0001507	HP:0001507	Growth abnormality	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001507	HP:0001507	Growth abnormality	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001507	HP:0001507	Growth abnormality	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0001507	HP:0001507	Growth abnormality	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0001507	HP:0001507	Growth abnormality	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0001507	HP:0001507	Growth abnormality	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0001507	HP:0001507	Growth abnormality	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0001507	HP:0001507	Growth abnormality	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0001507	HP:0001507	Growth abnormality	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0001507	HP:0001507	Growth abnormality	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency			20
HP:0001507	HP:0001507	Growth abnormality	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0001507	HP:0001507	Growth abnormality	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001507	HP:0001507	Growth abnormality	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0001507	HP:0001507	Growth abnormality	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0001507	HP:0001507	Growth abnormality	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0001507	HP:0001507	Growth abnormality	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0001507	HP:0001507	Growth abnormality	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0001507	HP:0001507	Growth abnormality	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0001507	HP:0001507	Growth abnormality	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0001507	Growth abnormality	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001507	HP:0001507	Growth abnormality	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5			90
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0001507	HP:0001507	Growth abnormality	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001507	HP:0001507	Growth abnormality	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0001507	Growth abnormality	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001507	HP:0001507	Growth abnormality	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001507	HP:0001507	Growth abnormality	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0001507	HP:0001507	Growth abnormality	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0001507	HP:0001507	Growth abnormality	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0001507	HP:0001507	Growth abnormality	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0001507	HP:0001507	Growth abnormality	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0001507	HP:0001507	Growth abnormality	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0001507	HP:0001507	Growth abnormality	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0001507	HP:0001507	Growth abnormality	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			187
HP:0001507	HP:0001507	Growth abnormality	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001507	HP:0001507	Growth abnormality	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0001507	HP:0001507	Growth abnormality	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0001507	Growth abnormality	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0001507	HP:0001507	Growth abnormality	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001507	HP:0001507	Growth abnormality	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0001507	HP:0001507	Growth abnormality	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0001507	HP:0001507	Growth abnormality	0	NOG CL E G H	9241	7866	ORPHA:1412	Tarsal-carpal coalition syndrome			22
HP:0001507	HP:0001507	Growth abnormality	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0001507	Growth abnormality	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0001507	HP:0001507	Growth abnormality	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0001507	HP:0001507	Growth abnormality	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0001507	HP:0001507	Growth abnormality	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001507	HP:0001507	Growth abnormality	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001507	HP:0001507	Growth abnormality	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0001507	HP:0001507	Growth abnormality	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001507	HP:0001507	Growth abnormality	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0001507	HP:0001507	Growth abnormality	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0001507	HP:0001507	Growth abnormality	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1			85
HP:0001507	HP:0001507	Growth abnormality	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0001507	HP:0001507	Growth abnormality	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0001507	HP:0001507	Growth abnormality	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4			220
HP:0001507	HP:0001507	Growth abnormality	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0001507	HP:0001507	Growth abnormality	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0001507	HP:0001507	Growth abnormality	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001507	HP:0001507	Growth abnormality	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0001507	HP:0001507	Growth abnormality	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0001507	Growth abnormality	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0001507	Growth abnormality	0	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type			53
HP:0001507	HP:0001507	Growth abnormality	0	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities			53
HP:0001507	HP:0001507	Growth abnormality	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001507	HP:0001507	Growth abnormality	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0001507	HP:0001507	Growth abnormality	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital			48
HP:0001507	HP:0001507	Growth abnormality	0	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0001507	HP:0001507	Growth abnormality	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001507	HP:0001507	Growth abnormality	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001507	HP:0001507	Growth abnormality	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0001507	HP:0001507	Growth abnormality	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001507	HP:0001507	Growth abnormality	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant			109
HP:0001507	HP:0001507	Growth abnormality	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0001507	HP:0001507	Growth abnormality	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0001507	HP:0001507	Growth abnormality	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0001507	HP:0001507	Growth abnormality	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001507	HP:0001507	Growth abnormality	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001507	HP:0001507	Growth abnormality	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0001507	HP:0001507	Growth abnormality	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0001507	Growth abnormality	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0001507	HP:0001507	Growth abnormality	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0001507	HP:0001507	Growth abnormality	0	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome			544
HP:0001507	HP:0001507	Growth abnormality	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0001507	HP:0001507	Growth abnormality	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001507	HP:0001507	Growth abnormality	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0001507	HP:0001507	Growth abnormality	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0001507	Growth abnormality	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001507	Growth abnormality	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001507	Growth abnormality	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0001507	HP:0001507	Growth abnormality	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001507	HP:0001507	Growth abnormality	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001507	HP:0001507	Growth abnormality	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0001507	HP:0001507	Growth abnormality	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0001507	Growth abnormality	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0001507	HP:0001507	Growth abnormality	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0001507	HP:0001507	Growth abnormality	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0001507	HP:0001507	Growth abnormality	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0001507	HP:0001507	Growth abnormality	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0001507	HP:0001507	Growth abnormality	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001507	HP:0001507	Growth abnormality	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0001507	HP:0001507	Growth abnormality	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001507	HP:0001507	Growth abnormality	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0001507	HP:0001507	Growth abnormality	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001507	HP:0001507	Growth abnormality	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001507	HP:0001507	Growth abnormality	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0001507	HP:0001507	Growth abnormality	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001507	HP:0001507	Growth abnormality	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001507	HP:0001507	Growth abnormality	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0001507	HP:0001507	Growth abnormality	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0001507	HP:0001507	Growth abnormality	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0001507	HP:0001507	Growth abnormality	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0001507	HP:0001507	Growth abnormality	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001507	HP:0001507	Growth abnormality	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001507	HP:0001507	Growth abnormality	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0001507	HP:0001507	Growth abnormality	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001507	Growth abnormality	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0001507	HP:0001507	Growth abnormality	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0001507	Growth abnormality	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0001507	HP:0001507	Growth abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0001507	HP:0001507	Growth abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001507	HP:0001507	Growth abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001507	HP:0001507	Growth abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001507	HP:0001507	Growth abnormality	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001507	HP:0001507	Growth abnormality	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0001507	HP:0001507	Growth abnormality	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0001507	HP:0001507	Growth abnormality	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001507	HP:0001507	Growth abnormality	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0001507	HP:0001507	Growth abnormality	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0001507	HP:0001507	Growth abnormality	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0001507	HP:0001507	Growth abnormality	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0001507	HP:0001507	Growth abnormality	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001507	HP:0001507	Growth abnormality	0	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria
HP:0001507	HP:0001507	Growth abnormality	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0001507	HP:0001507	Growth abnormality	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0001507	HP:0001507	Growth abnormality	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0001507	HP:0001507	Growth abnormality	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001507	HP:0001507	Growth abnormality	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0001507	HP:0001507	Growth abnormality	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0001507	HP:0001507	Growth abnormality	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0001507	HP:0001507	Growth abnormality	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0001507	HP:0001507	Growth abnormality	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001507	Growth abnormality	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001507	HP:0001507	Growth abnormality	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001507	HP:0001507	Growth abnormality	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0001507	HP:0001507	Growth abnormality	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0001507	Growth abnormality	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001507	HP:0001507	Growth abnormality	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0001507	HP:0001507	Growth abnormality	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0001507	HP:0001507	Growth abnormality	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5			41
HP:0001507	HP:0001507	Growth abnormality	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0001507	HP:0001507	Growth abnormality	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0001507	HP:0001507	Growth abnormality	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0001507	HP:0001507	Growth abnormality	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0001507	HP:0001507	Growth abnormality	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001507	HP:0001507	Growth abnormality	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0001507	HP:0001507	Growth abnormality	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001507	HP:0001507	Growth abnormality	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001507	HP:0001507	Growth abnormality	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0001507	HP:0001507	Growth abnormality	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0001507	HP:0001507	Growth abnormality	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0001507	HP:0001507	Growth abnormality	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001507	HP:0001507	Growth abnormality	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001507	HP:0001507	Growth abnormality	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0001507	HP:0001507	Growth abnormality	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0001507	HP:0001507	Growth abnormality	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001507	HP:0001507	Growth abnormality	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0001507	HP:0001507	Growth abnormality	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0001507	HP:0001507	Growth abnormality	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0001507	HP:0001507	Growth abnormality	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0001507	HP:0001507	Growth abnormality	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0001507	HP:0001507	Growth abnormality	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0001507	HP:0001507	Growth abnormality	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0001507	HP:0001507	Growth abnormality	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0001507	HP:0001507	Growth abnormality	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0001507	HP:0001507	Growth abnormality	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001507	HP:0001507	Growth abnormality	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0001507	HP:0001507	Growth abnormality	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0001507	Growth abnormality	0	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent			55
HP:0001507	HP:0001507	Growth abnormality	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0001507	HP:0001507	Growth abnormality	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0001507	HP:0001507	Growth abnormality	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0001507	HP:0001507	Growth abnormality	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0001507	HP:0001507	Growth abnormality	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0001507	HP:0001507	Growth abnormality	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0001507	HP:0001507	Growth abnormality	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0001507	HP:0001507	Growth abnormality	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0001507	HP:0001507	Growth abnormality	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0001507	HP:0001507	Growth abnormality	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0001507	HP:0001507	Growth abnormality	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0001507	Growth abnormality	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0001507	Growth abnormality	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001507	HP:0001507	Growth abnormality	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001507	HP:0001507	Growth abnormality	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0001507	HP:0001507	Growth abnormality	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0001507	HP:0001507	Growth abnormality	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0001507	HP:0001507	Growth abnormality	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001507	HP:0001507	Growth abnormality	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001507	HP:0001507	Growth abnormality	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0001507	HP:0001507	Growth abnormality	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0001507	HP:0001507	Growth abnormality	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0001507	HP:0001507	Growth abnormality	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0001507	HP:0001507	Growth abnormality	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001507	HP:0001507	Growth abnormality	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0001507	HP:0001507	Growth abnormality	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001507	HP:0001507	Growth abnormality	0	PDE3A CL E G H	5139	8778	ORPHA:1276	Brachydactyly-arterial hypertension syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	PDE3A CL E G H	5139	8778	OMIM:112410	Hypertension and brachydactyly syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0001507	HP:0001507	Growth abnormality	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0001507	HP:0001507	Growth abnormality	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0001507	HP:0001507	Growth abnormality	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0001507	HP:0001507	Growth abnormality	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0001507	HP:0001507	Growth abnormality	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0001507	HP:0001507	Growth abnormality	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0001507	HP:0001507	Growth abnormality	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0001507	HP:0001507	Growth abnormality	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0001507	HP:0001507	Growth abnormality	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001507	HP:0001507	Growth abnormality	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis			9
HP:0001507	HP:0001507	Growth abnormality	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0001507	HP:0001507	Growth abnormality	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis			28
HP:0001507	HP:0001507	Growth abnormality	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0001507	HP:0001507	Growth abnormality	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0001507	HP:0001507	Growth abnormality	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001507	HP:0001507	Growth abnormality	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0001507	HP:0001507	Growth abnormality	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001507	HP:0001507	Growth abnormality	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0001507	HP:0001507	Growth abnormality	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0001507	HP:0001507	Growth abnormality	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0001507	HP:0001507	Growth abnormality	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001507	HP:0001507	Growth abnormality	0	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent			30
HP:0001507	HP:0001507	Growth abnormality	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0001507	HP:0001507	Growth abnormality	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0001507	HP:0001507	Growth abnormality	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001507	HP:0001507	Growth abnormality	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0001507	HP:0001507	Growth abnormality	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0001507	HP:0001507	Growth abnormality	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001507	HP:0001507	Growth abnormality	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001507	HP:0001507	Growth abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0001507	HP:0001507	Growth abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001507	HP:0001507	Growth abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0001507	HP:0001507	Growth abnormality	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001507	HP:0001507	Growth abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001507	HP:0001507	Growth abnormality	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001507	HP:0001507	Growth abnormality	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0001507	HP:0001507	Growth abnormality	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0001507	HP:0001507	Growth abnormality	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001507	HP:0001507	Growth abnormality	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001507	HP:0001507	Growth abnormality	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0001507	HP:0001507	Growth abnormality	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001507	HP:0001507	Growth abnormality	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0001507	HP:0001507	Growth abnormality	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0001507	HP:0001507	Growth abnormality	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001507	HP:0001507	Growth abnormality	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0001507	HP:0001507	Growth abnormality	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0001507	HP:0001507	Growth abnormality	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001507	HP:0001507	Growth abnormality	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001507	HP:0001507	Growth abnormality	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0001507	HP:0001507	Growth abnormality	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001507	HP:0001507	Growth abnormality	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001507	HP:0001507	Growth abnormality	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0001507	HP:0001507	Growth abnormality	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0001507	HP:0001507	Growth abnormality	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001507	HP:0001507	Growth abnormality	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001507	HP:0001507	Growth abnormality	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0001507	HP:0001507	Growth abnormality	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001507	HP:0001507	Growth abnormality	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001507	HP:0001507	Growth abnormality	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001507	HP:0001507	Growth abnormality	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0001507	HP:0001507	Growth abnormality	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0001507	HP:0001507	Growth abnormality	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001507	HP:0001507	Growth abnormality	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001507	HP:0001507	Growth abnormality	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0001507	HP:0001507	Growth abnormality	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001507	HP:0001507	Growth abnormality	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001507	HP:0001507	Growth abnormality	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0001507	HP:0001507	Growth abnormality	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001507	HP:0001507	Growth abnormality	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0001507	HP:0001507	Growth abnormality	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0001507	HP:0001507	Growth abnormality	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0001507	HP:0001507	Growth abnormality	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001507	HP:0001507	Growth abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0001507	HP:0001507	Growth abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001507	HP:0001507	Growth abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0001507	HP:0001507	Growth abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001507	HP:0001507	Growth abnormality	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0001507	Growth abnormality	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001507	HP:0001507	Growth abnormality	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4			20
HP:0001507	HP:0001507	Growth abnormality	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001507	HP:0001507	Growth abnormality	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001507	HP:0001507	Growth abnormality	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001507	HP:0001507	Growth abnormality	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001507	HP:0001507	Growth abnormality	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0001507	HP:0001507	Growth abnormality	0	PHC1 CL E G H	1911	3182	OMIM:615414	Microcephaly 11, primary, autosomal recessive			16
HP:0001507	HP:0001507	Growth abnormality	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0001507	HP:0001507	Growth abnormality	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0001507	HP:0001507	Growth abnormality	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0001507	HP:0001507	Growth abnormality	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0001507	Growth abnormality	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0001507	Growth abnormality	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001507	HP:0001507	Growth abnormality	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0001507	HP:0001507	Growth abnormality	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0001507	HP:0001507	Growth abnormality	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001507	HP:0001507	Growth abnormality	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0001507	HP:0001507	Growth abnormality	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001507	HP:0001507	Growth abnormality	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0001507	HP:0001507	Growth abnormality	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001507	HP:0001507	Growth abnormality	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0001507	HP:0001507	Growth abnormality	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001507	HP:0001507	Growth abnormality	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0001507	HP:0001507	Growth abnormality	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001507	HP:0001507	Growth abnormality	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001507	HP:0001507	Growth abnormality	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0001507	HP:0001507	Growth abnormality	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0001507	HP:0001507	Growth abnormality	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001507	HP:0001507	Growth abnormality	0	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0001507	HP:0001507	Growth abnormality	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001507	HP:0001507	Growth abnormality	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0001507	HP:0001507	Growth abnormality	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001507	HP:0001507	Growth abnormality	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0001507	Growth abnormality	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001507	HP:0001507	Growth abnormality	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0001507	HP:0001507	Growth abnormality	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0001507	HP:0001507	Growth abnormality	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001507	HP:0001507	Growth abnormality	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001507	HP:0001507	Growth abnormality	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001507	HP:0001507	Growth abnormality	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001507	HP:0001507	Growth abnormality	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001507	HP:0001507	Growth abnormality	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0001507	HP:0001507	Growth abnormality	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001507	HP:0001507	Growth abnormality	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0001507	HP:0001507	Growth abnormality	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001507	HP:0001507	Growth abnormality	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0001507	HP:0001507	Growth abnormality	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0001507	HP:0001507	Growth abnormality	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36			43
HP:0001507	HP:0001507	Growth abnormality	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0001507	HP:0001507	Growth abnormality	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0001507	HP:0001507	Growth abnormality	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0001507	HP:0001507	Growth abnormality	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0001507	HP:0001507	Growth abnormality	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome			51
HP:0001507	HP:0001507	Growth abnormality	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001507	HP:0001507	Growth abnormality	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0001507	Growth abnormality	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0001507	HP:0001507	Growth abnormality	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0001507	HP:0001507	Growth abnormality	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001507	HP:0001507	Growth abnormality	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0001507	HP:0001507	Growth abnormality	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0001507	HP:0001507	Growth abnormality	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0001507	HP:0001507	Growth abnormality	0	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0001507	Growth abnormality	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001507	HP:0001507	Growth abnormality	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001507	HP:0001507	Growth abnormality	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0001507	Growth abnormality	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0001507	HP:0001507	Growth abnormality	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0001507	HP:0001507	Growth abnormality	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0001507	HP:0001507	Growth abnormality	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001507	HP:0001507	Growth abnormality	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001507	HP:0001507	Growth abnormality	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0001507	HP:0001507	Growth abnormality	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0001507	HP:0001507	Growth abnormality	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0001507	HP:0001507	Growth abnormality	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001507	HP:0001507	Growth abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0001507	HP:0001507	Growth abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0001507	HP:0001507	Growth abnormality	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001507	HP:0001507	Growth abnormality	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0001507	HP:0001507	Growth abnormality	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001507	HP:0001507	Growth abnormality	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0001507	HP:0001507	Growth abnormality	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0001507	HP:0001507	Growth abnormality	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0001507	HP:0001507	Growth abnormality	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0001507	HP:0001507	Growth abnormality	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0001507	HP:0001507	Growth abnormality	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0001507	HP:0001507	Growth abnormality	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0001507	HP:0001507	Growth abnormality	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001507	HP:0001507	Growth abnormality	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome			103
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001507	HP:0001507	Growth abnormality	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0001507	HP:0001507	Growth abnormality	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001507	HP:0001507	Growth abnormality	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0001507	HP:0001507	Growth abnormality	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0001507	HP:0001507	Growth abnormality	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0001507	HP:0001507	Growth abnormality	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0001507	Growth abnormality	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B			31
HP:0001507	HP:0001507	Growth abnormality	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0001507	Growth abnormality	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0001507	HP:0001507	Growth abnormality	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0001507	HP:0001507	Growth abnormality	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0001507	HP:0001507	Growth abnormality	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature			1129
HP:0001507	HP:0001507	Growth abnormality	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome			1129
HP:0001507	HP:0001507	Growth abnormality	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0001507	HP:0001507	Growth abnormality	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001507	HP:0001507	Growth abnormality	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0001507	HP:0001507	Growth abnormality	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0001507	HP:0001507	Growth abnormality	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0001507	HP:0001507	Growth abnormality	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0001507	HP:0001507	Growth abnormality	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001507	HP:0001507	Growth abnormality	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001507	HP:0001507	Growth abnormality	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0001507	HP:0001507	Growth abnormality	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0001507	HP:0001507	Growth abnormality	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0001507	HP:0001507	Growth abnormality	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0001507	HP:0001507	Growth abnormality	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0001507	HP:0001507	Growth abnormality	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0001507	HP:0001507	Growth abnormality	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001507	HP:0001507	Growth abnormality	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0001507	HP:0001507	Growth abnormality	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0001507	HP:0001507	Growth abnormality	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0001507	Growth abnormality	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0001507	Growth abnormality	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0001507	HP:0001507	Growth abnormality	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0001507	HP:0001507	Growth abnormality	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001507	HP:0001507	Growth abnormality	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001507	Growth abnormality	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001507	HP:0001507	Growth abnormality	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001507	HP:0001507	Growth abnormality	0	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0001507	HP:0001507	Growth abnormality	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0001507	HP:0001507	Growth abnormality	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0001507	HP:0001507	Growth abnormality	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0001507	HP:0001507	Growth abnormality	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0001507	HP:0001507	Growth abnormality	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0001507	HP:0001507	Growth abnormality	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001507	HP:0001507	Growth abnormality	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001507	HP:0001507	Growth abnormality	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0001507	HP:0001507	Growth abnormality	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0001507	HP:0001507	Growth abnormality	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0001507	HP:0001507	Growth abnormality	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0001507	HP:0001507	Growth abnormality	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001507	HP:0001507	Growth abnormality	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0001507	Growth abnormality	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001507	HP:0001507	Growth abnormality	0	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent			42
HP:0001507	HP:0001507	Growth abnormality	0	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0001507	HP:0001507	Growth abnormality	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0001507	Growth abnormality	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0001507	HP:0001507	Growth abnormality	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001507	HP:0001507	Growth abnormality	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0001507	HP:0001507	Growth abnormality	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001507	HP:0001507	Growth abnormality	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0001507	Growth abnormality	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0001507	HP:0001507	Growth abnormality	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0001507	HP:0001507	Growth abnormality	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0001507	HP:0001507	Growth abnormality	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0001507	HP:0001507	Growth abnormality	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0001507	HP:0001507	Growth abnormality	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0001507	Growth abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0001507	HP:0001507	Growth abnormality	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001507	HP:0001507	Growth abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0001507	HP:0001507	Growth abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0001507	HP:0001507	Growth abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0001507	HP:0001507	Growth abnormality	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0001507	HP:0001507	Growth abnormality	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001507	HP:0001507	Growth abnormality	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001507	HP:0001507	Growth abnormality	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001507	HP:0001507	Growth abnormality	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001507	HP:0001507	Growth abnormality	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22			7
HP:0001507	HP:0001507	Growth abnormality	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0001507	HP:0001507	Growth abnormality	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001507	HP:0001507	Growth abnormality	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0001507	HP:0001507	Growth abnormality	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001507	HP:0001507	Growth abnormality	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001507	HP:0001507	Growth abnormality	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0001507	HP:0001507	Growth abnormality	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0001507	Growth abnormality	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0001507	HP:0001507	Growth abnormality	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0001507	HP:0001507	Growth abnormality	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001507	HP:0001507	Growth abnormality	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001507	HP:0001507	Growth abnormality	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0001507	HP:0001507	Growth abnormality	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0001507	HP:0001507	Growth abnormality	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0001507	HP:0001507	Growth abnormality	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0001507	HP:0001507	Growth abnormality	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0001507	HP:0001507	Growth abnormality	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0001507	HP:0001507	Growth abnormality	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0001507	Growth abnormality	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0001507	HP:0001507	Growth abnormality	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0001507	HP:0001507	Growth abnormality	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0001507	HP:0001507	Growth abnormality	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0001507	HP:0001507	Growth abnormality	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0001507	HP:0001507	Growth abnormality	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2			54
HP:0001507	HP:0001507	Growth abnormality	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001507	HP:0001507	Growth abnormality	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0001507	HP:0001507	Growth abnormality	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0001507	HP:0001507	Growth abnormality	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0001507	Growth abnormality	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0001507	HP:0001507	Growth abnormality	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0001507	HP:0001507	Growth abnormality	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0001507	HP:0001507	Growth abnormality	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0001507	HP:0001507	Growth abnormality	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0001507	HP:0001507	Growth abnormality	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001507	HP:0001507	Growth abnormality	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001507	HP:0001507	Growth abnormality	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001507	HP:0001507	Growth abnormality	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0001507	HP:0001507	Growth abnormality	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001507	HP:0001507	Growth abnormality	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001507	HP:0001507	Growth abnormality	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001507	HP:0001507	Growth abnormality	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001507	HP:0001507	Growth abnormality	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0001507	HP:0001507	Growth abnormality	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001507	HP:0001507	Growth abnormality	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001507	HP:0001507	Growth abnormality	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0001507	HP:0001507	Growth abnormality	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3			2
HP:0001507	HP:0001507	Growth abnormality	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0001507	HP:0001507	Growth abnormality	0	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency			54
HP:0001507	HP:0001507	Growth abnormality	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0001507	Growth abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0001507	HP:0001507	Growth abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0001507	HP:0001507	Growth abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001507	HP:0001507	Growth abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0001507	HP:0001507	Growth abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0001507	HP:0001507	Growth abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0001507	HP:0001507	Growth abnormality	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0001507	Growth abnormality	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0001507	Growth abnormality	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0001507	HP:0001507	Growth abnormality	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0001507	HP:0001507	Growth abnormality	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001507	HP:0001507	Growth abnormality	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0001507	HP:0001507	Growth abnormality	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0001507	HP:0001507	Growth abnormality	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0001507	HP:0001507	Growth abnormality	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0001507	HP:0001507	Growth abnormality	0	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0001507	HP:0001507	Growth abnormality	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001507	HP:0001507	Growth abnormality	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001507	HP:0001507	Growth abnormality	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0001507	HP:0001507	Growth abnormality	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0001507	HP:0001507	Growth abnormality	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0001507	HP:0001507	Growth abnormality	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E			6
HP:0001507	HP:0001507	Growth abnormality	0	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2			6
HP:0001507	HP:0001507	Growth abnormality	0	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0001507	Growth abnormality	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001507	HP:0001507	Growth abnormality	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001507	HP:0001507	Growth abnormality	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001507	HP:0001507	Growth abnormality	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001507	HP:0001507	Growth abnormality	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0001507	Growth abnormality	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0001507	Growth abnormality	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001507	HP:0001507	Growth abnormality	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0001507	HP:0001507	Growth abnormality	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0001507	Growth abnormality	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0001507	Growth abnormality	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0001507	Growth abnormality	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0001507	HP:0001507	Growth abnormality	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001507	HP:0001507	Growth abnormality	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0001507	HP:0001507	Growth abnormality	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0001507	HP:0001507	Growth abnormality	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0001507	HP:0001507	Growth abnormality	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0001507	HP:0001507	Growth abnormality	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001507	HP:0001507	Growth abnormality	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001507	HP:0001507	Growth abnormality	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001507	Growth abnormality	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0001507	HP:0001507	Growth abnormality	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0001507	HP:0001507	Growth abnormality	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0001507	HP:0001507	Growth abnormality	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0001507	HP:0001507	Growth abnormality	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0001507	HP:0001507	Growth abnormality	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0001507	HP:0001507	Growth abnormality	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0001507	HP:0001507	Growth abnormality	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0001507	HP:0001507	Growth abnormality	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001507	HP:0001507	Growth abnormality	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001507	HP:0001507	Growth abnormality	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001507	HP:0001507	Growth abnormality	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0001507	HP:0001507	Growth abnormality	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0001507	HP:0001507	Growth abnormality	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0001507	HP:0001507	Growth abnormality	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001507	HP:0001507	Growth abnormality	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0001507	HP:0001507	Growth abnormality	0	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0001507	HP:0001507	Growth abnormality	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0001507	HP:0001507	Growth abnormality	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0001507	HP:0001507	Growth abnormality	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001507	HP:0001507	Growth abnormality	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C			9
HP:0001507	HP:0001507	Growth abnormality	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0001507	HP:0001507	Growth abnormality	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0001507	Growth abnormality	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001507	HP:0001507	Growth abnormality	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0001507	HP:0001507	Growth abnormality	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001507	HP:0001507	Growth abnormality	0	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R			9
HP:0001507	HP:0001507	Growth abnormality	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001507	HP:0001507	Growth abnormality	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O			391
HP:0001507	HP:0001507	Growth abnormality	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001507	HP:0001507	Growth abnormality	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001507	HP:0001507	Growth abnormality	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001507	HP:0001507	Growth abnormality	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001507	HP:0001507	Growth abnormality	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0001507	HP:0001507	Growth abnormality	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001507	HP:0001507	Growth abnormality	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0001507	HP:0001507	Growth abnormality	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0001507	HP:0001507	Growth abnormality	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001507	HP:0001507	Growth abnormality	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0001507	HP:0001507	Growth abnormality	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0001507	HP:0001507	Growth abnormality	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0001507	HP:0001507	Growth abnormality	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0001507	HP:0001507	Growth abnormality	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001507	HP:0001507	Growth abnormality	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001507	HP:0001507	Growth abnormality	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001507	HP:0001507	Growth abnormality	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001507	HP:0001507	Growth abnormality	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001507	HP:0001507	Growth abnormality	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0001507	HP:0001507	Growth abnormality	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0001507	HP:0001507	Growth abnormality	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001507	HP:0001507	Growth abnormality	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0001507	HP:0001507	Growth abnormality	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0001507	HP:0001507	Growth abnormality	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0001507	HP:0001507	Growth abnormality	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001507	HP:0001507	Growth abnormality	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0001507	HP:0001507	Growth abnormality	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0001507	HP:0001507	Growth abnormality	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0001507	HP:0001507	Growth abnormality	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0001507	HP:0001507	Growth abnormality	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0001507	HP:0001507	Growth abnormality	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome			445
HP:0001507	HP:0001507	Growth abnormality	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0001507	HP:0001507	Growth abnormality	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0001507	HP:0001507	Growth abnormality	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0001507	HP:0001507	Growth abnormality	0	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53			1
HP:0001507	HP:0001507	Growth abnormality	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0001507	HP:0001507	Growth abnormality	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001507	HP:0001507	Growth abnormality	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0001507	HP:0001507	Growth abnormality	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001507	HP:0001507	Growth abnormality	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0001507	HP:0001507	Growth abnormality	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0001507	HP:0001507	Growth abnormality	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0001507	HP:0001507	Growth abnormality	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0001507	HP:0001507	Growth abnormality	0	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0001507	Growth abnormality	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0001507	HP:0001507	Growth abnormality	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0001507	HP:0001507	Growth abnormality	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001507	HP:0001507	Growth abnormality	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0001507	HP:0001507	Growth abnormality	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0001507	HP:0001507	Growth abnormality	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0001507	HP:0001507	Growth abnormality	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0001507	HP:0001507	Growth abnormality	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0001507	HP:0001507	Growth abnormality	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0001507	HP:0001507	Growth abnormality	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0001507	HP:0001507	Growth abnormality	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0001507	HP:0001507	Growth abnormality	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0001507	HP:0001507	Growth abnormality	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0001507	HP:0001507	Growth abnormality	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0001507	HP:0001507	Growth abnormality	0	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2
HP:0001507	HP:0001507	Growth abnormality	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0001507	HP:0001507	Growth abnormality	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0001507	HP:0001507	Growth abnormality	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001507	HP:0001507	Growth abnormality	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001507	HP:0001507	Growth abnormality	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0001507	HP:0001507	Growth abnormality	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001507	HP:0001507	Growth abnormality	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0001507	Growth abnormality	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0001507	HP:0001507	Growth abnormality	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0001507	Growth abnormality	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001507	HP:0001507	Growth abnormality	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001507	HP:0001507	Growth abnormality	0	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0001507	HP:0001507	Growth abnormality	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0001507	HP:0001507	Growth abnormality	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001507	HP:0001507	Growth abnormality	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0001507	HP:0001507	Growth abnormality	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001507	HP:0001507	Growth abnormality	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001507	HP:0001507	Growth abnormality	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0001507	HP:0001507	Growth abnormality	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0001507	Growth abnormality	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001507	HP:0001507	Growth abnormality	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0001507	Growth abnormality	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001507	HP:0001507	Growth abnormality	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001507	HP:0001507	Growth abnormality	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0001507	HP:0001507	Growth abnormality	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001507	HP:0001507	Growth abnormality	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0001507	HP:0001507	Growth abnormality	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0001507	HP:0001507	Growth abnormality	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0001507	HP:0001507	Growth abnormality	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0001507	HP:0001507	Growth abnormality	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0001507	HP:0001507	Growth abnormality	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0001507	HP:0001507	Growth abnormality	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0001507	HP:0001507	Growth abnormality	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001507	HP:0001507	Growth abnormality	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001507	Growth abnormality	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001507	HP:0001507	Growth abnormality	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0001507	HP:0001507	Growth abnormality	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0001507	Growth abnormality	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001507	Growth abnormality	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0001507	Growth abnormality	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001507	HP:0001507	Growth abnormality	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001507	Growth abnormality	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001507	Growth abnormality	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001507	Growth abnormality	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001507	HP:0001507	Growth abnormality	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001507	HP:0001507	Growth abnormality	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001507	HP:0001507	Growth abnormality	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001507	HP:0001507	Growth abnormality	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001507	HP:0001507	Growth abnormality	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9			26
HP:0001507	HP:0001507	Growth abnormality	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001507	Growth abnormality	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001507	HP:0001507	Growth abnormality	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001507	HP:0001507	Growth abnormality	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001507	HP:0001507	Growth abnormality	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001507	HP:0001507	Growth abnormality	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001507	Growth abnormality	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0001507	HP:0001507	Growth abnormality	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0001507	HP:0001507	Growth abnormality	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001507	Growth abnormality	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0001507	Growth abnormality	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001507	HP:0001507	Growth abnormality	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001507	Growth abnormality	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001507	Growth abnormality	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0001507	HP:0001507	Growth abnormality	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0001507	Growth abnormality	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0001507	HP:0001507	Growth abnormality	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0001507	HP:0001507	Growth abnormality	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers			65
HP:0001507	HP:0001507	Growth abnormality	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0001507	Growth abnormality	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001507	HP:0001507	Growth abnormality	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001507	HP:0001507	Growth abnormality	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001507	HP:0001507	Growth abnormality	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0001507	HP:0001507	Growth abnormality	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0001507	HP:0001507	Growth abnormality	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0001507	HP:0001507	Growth abnormality	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0001507	HP:0001507	Growth abnormality	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0001507	HP:0001507	Growth abnormality	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0001507	HP:0001507	Growth abnormality	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0001507	HP:0001507	Growth abnormality	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5			77
HP:0001507	HP:0001507	Growth abnormality	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0001507	HP:0001507	Growth abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001507	HP:0001507	Growth abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001507	HP:0001507	Growth abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001507	HP:0001507	Growth abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0001507	HP:0001507	Growth abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0001507	HP:0001507	Growth abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0001507	HP:0001507	Growth abnormality	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0001507	Growth abnormality	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0001507	HP:0001507	Growth abnormality	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0001507	HP:0001507	Growth abnormality	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0001507	HP:0001507	Growth abnormality	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0001507	HP:0001507	Growth abnormality	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0001507	HP:0001507	Growth abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001507	HP:0001507	Growth abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001507	HP:0001507	Growth abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0001507	HP:0001507	Growth abnormality	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001507	HP:0001507	Growth abnormality	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001507	HP:0001507	Growth abnormality	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0001507	HP:0001507	Growth abnormality	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001507	HP:0001507	Growth abnormality	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001507	HP:0001507	Growth abnormality	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0001507	HP:0001507	Growth abnormality	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0001507	HP:0001507	Growth abnormality	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0001507	HP:0001507	Growth abnormality	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0001507	HP:0001507	Growth abnormality	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease			8
HP:0001507	HP:0001507	Growth abnormality	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0001507	HP:0001507	Growth abnormality	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0001507	HP:0001507	Growth abnormality	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0001507	Growth abnormality	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0001507	HP:0001507	Growth abnormality	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0001507	HP:0001507	Growth abnormality	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0001507	HP:0001507	Growth abnormality	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001507	HP:0001507	Growth abnormality	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0001507	HP:0001507	Growth abnormality	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0001507	HP:0001507	Growth abnormality	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0001507	Growth abnormality	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0001507	HP:0001507	Growth abnormality	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001507	HP:0001507	Growth abnormality	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001507	HP:0001507	Growth abnormality	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0001507	HP:0001507	Growth abnormality	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001507	HP:0001507	Growth abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0001507	HP:0001507	Growth abnormality	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001507	HP:0001507	Growth abnormality	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0001507	HP:0001507	Growth abnormality	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0001507	HP:0001507	Growth abnormality	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0001507	HP:0001507	Growth abnormality	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0001507	HP:0001507	Growth abnormality	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0001507	HP:0001507	Growth abnormality	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0001507	HP:0001507	Growth abnormality	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0001507	HP:0001507	Growth abnormality	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001507	HP:0001507	Growth abnormality	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0001507	HP:0001507	Growth abnormality	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0001507	HP:0001507	Growth abnormality	0	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0001507	HP:0001507	Growth abnormality	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0001507	HP:0001507	Growth abnormality	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0001507	HP:0001507	Growth abnormality	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0001507	HP:0001507	Growth abnormality	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0001507	HP:0001507	Growth abnormality	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001507	HP:0001507	Growth abnormality	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001507	HP:0001507	Growth abnormality	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001507	HP:0001507	Growth abnormality	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001507	HP:0001507	Growth abnormality	0	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2			16
HP:0001507	HP:0001507	Growth abnormality	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0001507	HP:0001507	Growth abnormality	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0001507	HP:0001507	Growth abnormality	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0001507	HP:0001507	Growth abnormality	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0001507	HP:0001507	Growth abnormality	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001507	HP:0001507	Growth abnormality	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0001507	HP:0001507	Growth abnormality	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0001507	HP:0001507	Growth abnormality	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0001507	HP:0001507	Growth abnormality	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0001507	HP:0001507	Growth abnormality	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0001507	HP:0001507	Growth abnormality	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0001507	HP:0001507	Growth abnormality	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0001507	HP:0001507	Growth abnormality	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001507	HP:0001507	Growth abnormality	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0001507	HP:0001507	Growth abnormality	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0001507	HP:0001507	Growth abnormality	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0001507	HP:0001507	Growth abnormality	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0001507	HP:0001507	Growth abnormality	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0001507	HP:0001507	Growth abnormality	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001507	HP:0001507	Growth abnormality	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5			2
HP:0001507	HP:0001507	Growth abnormality	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001507	HP:0001507	Growth abnormality	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal			3
HP:0001507	HP:0001507	Growth abnormality	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001507	HP:0001507	Growth abnormality	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001507	HP:0001507	Growth abnormality	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001507	HP:0001507	Growth abnormality	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001507	HP:0001507	Growth abnormality	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001507	HP:0001507	Growth abnormality	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0001507	Growth abnormality	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0001507	HP:0001507	Growth abnormality	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0001507	HP:0001507	Growth abnormality	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0001507	Growth abnormality	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001507	HP:0001507	Growth abnormality	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0001507	HP:0001507	Growth abnormality	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0001507	HP:0001507	Growth abnormality	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0001507	HP:0001507	Growth abnormality	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0001507	HP:0001507	Growth abnormality	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0001507	HP:0001507	Growth abnormality	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0001507	HP:0001507	Growth abnormality	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0001507	HP:0001507	Growth abnormality	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001507	HP:0001507	Growth abnormality	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0001507	HP:0001507	Growth abnormality	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001507	HP:0001507	Growth abnormality	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0001507	HP:0001507	Growth abnormality	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0001507	HP:0001507	Growth abnormality	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001507	HP:0001507	Growth abnormality	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0001507	HP:0001507	Growth abnormality	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0001507	HP:0001507	Growth abnormality	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0001507	HP:0001507	Growth abnormality	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0001507	HP:0001507	Growth abnormality	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0001507	HP:0001507	Growth abnormality	0	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia			2
HP:0001507	HP:0001507	Growth abnormality	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0001507	HP:0001507	Growth abnormality	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0001507	HP:0001507	Growth abnormality	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0001507	HP:0001507	Growth abnormality	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001507	HP:0001507	Growth abnormality	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0001507	HP:0001507	Growth abnormality	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0001507	HP:0001507	Growth abnormality	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001507	HP:0001507	Growth abnormality	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0001507	HP:0001507	Growth abnormality	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0001507	HP:0001507	Growth abnormality	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001507	HP:0001507	Growth abnormality	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0001507	HP:0001507	Growth abnormality	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0001507	HP:0001507	Growth abnormality	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0001507	HP:0001507	Growth abnormality	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			67
HP:0001507	HP:0001507	Growth abnormality	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001507	HP:0001507	Growth abnormality	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0001507	HP:0001507	Growth abnormality	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0001507	Growth abnormality	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0001507	HP:0001507	Growth abnormality	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0001507	HP:0001507	Growth abnormality	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0001507	HP:0001507	Growth abnormality	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0001507	HP:0001507	Growth abnormality	0	SHOX CL E G H	6473	10853	OMIM:300582	SHORT STATURE, IDIOPATHIC, X-LINKED; ISS			66
HP:0001507	HP:0001507	Growth abnormality	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0001507	HP:0001507	Growth abnormality	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001507	HP:0001507	Growth abnormality	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001507	HP:0001507	Growth abnormality	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0001507	HP:0001507	Growth abnormality	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0001507	HP:0001507	Growth abnormality	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001507	HP:0001507	Growth abnormality	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001507	HP:0001507	Growth abnormality	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0001507	HP:0001507	Growth abnormality	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0001507	HP:0001507	Growth abnormality	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0001507	HP:0001507	Growth abnormality	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0001507	HP:0001507	Growth abnormality	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0001507	HP:0001507	Growth abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0001507	HP:0001507	Growth abnormality	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001507	HP:0001507	Growth abnormality	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0001507	HP:0001507	Growth abnormality	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0001507	Growth abnormality	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0001507	HP:0001507	Growth abnormality	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0001507	Growth abnormality	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001507	HP:0001507	Growth abnormality	0	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary			6
HP:0001507	HP:0001507	Growth abnormality	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001507	HP:0001507	Growth abnormality	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0001507	Growth abnormality	0	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis			2
HP:0001507	HP:0001507	Growth abnormality	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001507	HP:0001507	Growth abnormality	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001507	HP:0001507	Growth abnormality	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0001507	HP:0001507	Growth abnormality	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0001507	HP:0001507	Growth abnormality	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001507	HP:0001507	Growth abnormality	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001507	HP:0001507	Growth abnormality	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0001507	HP:0001507	Growth abnormality	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0001507	HP:0001507	Growth abnormality	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001507	HP:0001507	Growth abnormality	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001507	HP:0001507	Growth abnormality	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001507	HP:0001507	Growth abnormality	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001507	HP:0001507	Growth abnormality	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001507	Growth abnormality	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0001507	HP:0001507	Growth abnormality	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis			70
HP:0001507	HP:0001507	Growth abnormality	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0001507	Growth abnormality	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001507	HP:0001507	Growth abnormality	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0001507	HP:0001507	Growth abnormality	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0001507	HP:0001507	Growth abnormality	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0001507	HP:0001507	Growth abnormality	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001507	HP:0001507	Growth abnormality	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001507	HP:0001507	Growth abnormality	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0001507	HP:0001507	Growth abnormality	0	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent			71
HP:0001507	HP:0001507	Growth abnormality	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0001507	HP:0001507	Growth abnormality	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0001507	HP:0001507	Growth abnormality	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0001507	HP:0001507	Growth abnormality	0	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0001507	Growth abnormality	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0001507	HP:0001507	Growth abnormality	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0001507	HP:0001507	Growth abnormality	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2			47
HP:0001507	HP:0001507	Growth abnormality	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001507	HP:0001507	Growth abnormality	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0001507	HP:0001507	Growth abnormality	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0001507	HP:0001507	Growth abnormality	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001507	HP:0001507	Growth abnormality	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001507	HP:0001507	Growth abnormality	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0001507	HP:0001507	Growth abnormality	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0001507	HP:0001507	Growth abnormality	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001507	HP:0001507	Growth abnormality	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001507	HP:0001507	Growth abnormality	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001507	HP:0001507	Growth abnormality	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0001507	HP:0001507	Growth abnormality	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0001507	HP:0001507	Growth abnormality	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0001507	HP:0001507	Growth abnormality	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0001507	HP:0001507	Growth abnormality	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0001507	HP:0001507	Growth abnormality	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0001507	HP:0001507	Growth abnormality	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0001507	HP:0001507	Growth abnormality	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001507	HP:0001507	Growth abnormality	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0001507	HP:0001507	Growth abnormality	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001507	HP:0001507	Growth abnormality	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0001507	HP:0001507	Growth abnormality	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0001507	HP:0001507	Growth abnormality	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001507	HP:0001507	Growth abnormality	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0001507	HP:0001507	Growth abnormality	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001507	HP:0001507	Growth abnormality	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001507	HP:0001507	Growth abnormality	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0001507	HP:0001507	Growth abnormality	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001507	HP:0001507	Growth abnormality	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption			74
HP:0001507	HP:0001507	Growth abnormality	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0001507	HP:0001507	Growth abnormality	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria			41
HP:0001507	HP:0001507	Growth abnormality	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1			59
HP:0001507	HP:0001507	Growth abnormality	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001507	Growth abnormality	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0001507	HP:0001507	Growth abnormality	0	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder			12
HP:0001507	HP:0001507	Growth abnormality	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0001507	HP:0001507	Growth abnormality	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0001507	HP:0001507	Growth abnormality	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0001507	HP:0001507	Growth abnormality	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0001507	HP:0001507	Growth abnormality	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001507	HP:0001507	Growth abnormality	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0001507	HP:0001507	Growth abnormality	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0001507	HP:0001507	Growth abnormality	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0001507	HP:0001507	Growth abnormality	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001507	HP:0001507	Growth abnormality	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0001507	HP:0001507	Growth abnormality	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001507	HP:0001507	Growth abnormality	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0001507	HP:0001507	Growth abnormality	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0001507	HP:0001507	Growth abnormality	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0001507	HP:0001507	Growth abnormality	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0001507	HP:0001507	Growth abnormality	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001507	HP:0001507	Growth abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0001507	HP:0001507	Growth abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0001507	HP:0001507	Growth abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			504
HP:0001507	HP:0001507	Growth abnormality	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0001507	HP:0001507	Growth abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0001507	HP:0001507	Growth abnormality	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0001507	Growth abnormality	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0001507	HP:0001507	Growth abnormality	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0001507	Growth abnormality	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0001507	Growth abnormality	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001507	HP:0001507	Growth abnormality	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0001507	HP:0001507	Growth abnormality	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0001507	Growth abnormality	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0001507	HP:0001507	Growth abnormality	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001507	HP:0001507	Growth abnormality	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0001507	HP:0001507	Growth abnormality	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0001507	HP:0001507	Growth abnormality	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0001507	HP:0001507	Growth abnormality	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001507	HP:0001507	Growth abnormality	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001507	HP:0001507	Growth abnormality	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0001507	HP:0001507	Growth abnormality	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0001507	HP:0001507	Growth abnormality	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0001507	Growth abnormality	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001507	HP:0001507	Growth abnormality	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001507	HP:0001507	Growth abnormality	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0001507	HP:0001507	Growth abnormality	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0001507	Growth abnormality	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001507	HP:0001507	Growth abnormality	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001507	HP:0001507	Growth abnormality	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001507	HP:0001507	Growth abnormality	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0001507	HP:0001507	Growth abnormality	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0001507	HP:0001507	Growth abnormality	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0001507	HP:0001507	Growth abnormality	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0001507	HP:0001507	Growth abnormality	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0001507	HP:0001507	Growth abnormality	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0001507	HP:0001507	Growth abnormality	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001507	HP:0001507	Growth abnormality	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0001507	HP:0001507	Growth abnormality	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001507	HP:0001507	Growth abnormality	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0001507	HP:0001507	Growth abnormality	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0001507	HP:0001507	Growth abnormality	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0001507	HP:0001507	Growth abnormality	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0001507	HP:0001507	Growth abnormality	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0001507	HP:0001507	Growth abnormality	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4			65
HP:0001507	HP:0001507	Growth abnormality	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0001507	HP:0001507	Growth abnormality	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0001507	HP:0001507	Growth abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001507	HP:0001507	Growth abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001507	HP:0001507	Growth abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001507	HP:0001507	Growth abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001507	HP:0001507	Growth abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001507	HP:0001507	Growth abnormality	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0001507	HP:0001507	Growth abnormality	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0001507	HP:0001507	Growth abnormality	0	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5			3
HP:0001507	HP:0001507	Growth abnormality	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001507	HP:0001507	Growth abnormality	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001507	HP:0001507	Growth abnormality	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001507	HP:0001507	Growth abnormality	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001507	HP:0001507	Growth abnormality	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0001507	HP:0001507	Growth abnormality	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0001507	HP:0001507	Growth abnormality	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0001507	HP:0001507	Growth abnormality	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0001507	HP:0001507	Growth abnormality	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0001507	HP:0001507	Growth abnormality	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001507	HP:0001507	Growth abnormality	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0001507	HP:0001507	Growth abnormality	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0001507	HP:0001507	Growth abnormality	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0001507	HP:0001507	Growth abnormality	0	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency			24
HP:0001507	HP:0001507	Growth abnormality	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0001507	HP:0001507	Growth abnormality	0	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked			24
HP:0001507	HP:0001507	Growth abnormality	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0001507	HP:0001507	Growth abnormality	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0001507	HP:0001507	Growth abnormality	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0001507	HP:0001507	Growth abnormality	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0001507	HP:0001507	Growth abnormality	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001507	HP:0001507	Growth abnormality	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0001507	HP:0001507	Growth abnormality	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0001507	HP:0001507	Growth abnormality	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0001507	HP:0001507	Growth abnormality	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0001507	HP:0001507	Growth abnormality	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0001507	HP:0001507	Growth abnormality	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0001507	Growth abnormality	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001507	HP:0001507	Growth abnormality	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001507	HP:0001507	Growth abnormality	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0001507	HP:0001507	Growth abnormality	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0001507	HP:0001507	Growth abnormality	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0001507	HP:0001507	Growth abnormality	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0001507	HP:0001507	Growth abnormality	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9			2
HP:0001507	HP:0001507	Growth abnormality	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0001507	HP:0001507	Growth abnormality	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0001507	HP:0001507	Growth abnormality	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0001507	HP:0001507	Growth abnormality	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001507	HP:0001507	Growth abnormality	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0001507	HP:0001507	Growth abnormality	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0001507	HP:0001507	Growth abnormality	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001507	HP:0001507	Growth abnormality	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001507	HP:0001507	Growth abnormality	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0001507	HP:0001507	Growth abnormality	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0001507	HP:0001507	Growth abnormality	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001507	HP:0001507	Growth abnormality	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001507	HP:0001507	Growth abnormality	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001507	HP:0001507	Growth abnormality	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001507	HP:0001507	Growth abnormality	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0001507	Growth abnormality	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0001507	HP:0001507	Growth abnormality	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001507	HP:0001507	Growth abnormality	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001507	HP:0001507	Growth abnormality	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0001507	HP:0001507	Growth abnormality	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0001507	Growth abnormality	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001507	HP:0001507	Growth abnormality	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001507	HP:0001507	Growth abnormality	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0001507	HP:0001507	Growth abnormality	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0001507	HP:0001507	Growth abnormality	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0001507	HP:0001507	Growth abnormality	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001507	HP:0001507	Growth abnormality	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0001507	HP:0001507	Growth abnormality	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1			23
HP:0001507	HP:0001507	Growth abnormality	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1			23
HP:0001507	HP:0001507	Growth abnormality	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0001507	HP:0001507	Growth abnormality	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0001507	HP:0001507	Growth abnormality	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0001507	HP:0001507	Growth abnormality	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0001507	HP:0001507	Growth abnormality	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0001507	HP:0001507	Growth abnormality	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001507	HP:0001507	Growth abnormality	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001507	HP:0001507	Growth abnormality	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001507	HP:0001507	Growth abnormality	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0001507	HP:0001507	Growth abnormality	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001507	HP:0001507	Growth abnormality	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001507	HP:0001507	Growth abnormality	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0001507	HP:0001507	Growth abnormality	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001507	HP:0001507	Growth abnormality	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0001507	HP:0001507	Growth abnormality	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0001507	HP:0001507	Growth abnormality	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0001507	Growth abnormality	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0001507	Growth abnormality	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001507	HP:0001507	Growth abnormality	0	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0001507	HP:0001507	Growth abnormality	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0001507	Growth abnormality	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0001507	HP:0001507	Growth abnormality	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0001507	HP:0001507	Growth abnormality	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0001507	HP:0001507	Growth abnormality	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0001507	HP:0001507	Growth abnormality	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0001507	HP:0001507	Growth abnormality	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0001507	HP:0001507	Growth abnormality	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0001507	HP:0001507	Growth abnormality	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0001507	HP:0001507	Growth abnormality	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0001507	HP:0001507	Growth abnormality	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0001507	HP:0001507	Growth abnormality	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0001507	HP:0001507	Growth abnormality	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001507	HP:0001507	Growth abnormality	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0001507	HP:0001507	Growth abnormality	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0001507	HP:0001507	Growth abnormality	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0001507	HP:0001507	Growth abnormality	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001507	HP:0001507	Growth abnormality	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001507	HP:0001507	Growth abnormality	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0001507	HP:0001507	Growth abnormality	0	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw			21
HP:0001507	HP:0001507	Growth abnormality	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0001507	HP:0001507	Growth abnormality	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0001507	HP:0001507	Growth abnormality	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0001507	HP:0001507	Growth abnormality	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0001507	HP:0001507	Growth abnormality	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0001507	HP:0001507	Growth abnormality	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0001507	HP:0001507	Growth abnormality	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0001507	HP:0001507	Growth abnormality	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB			86
HP:0001507	HP:0001507	Growth abnormality	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001507	Growth abnormality	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0001507	HP:0001507	Growth abnormality	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0001507	HP:0001507	Growth abnormality	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001507	HP:0001507	Growth abnormality	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001507	HP:0001507	Growth abnormality	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0001507	HP:0001507	Growth abnormality	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0001507	HP:0001507	Growth abnormality	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001507	HP:0001507	Growth abnormality	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0001507	HP:0001507	Growth abnormality	0	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III			8
HP:0001507	HP:0001507	Growth abnormality	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0001507	HP:0001507	Growth abnormality	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0001507	HP:0001507	Growth abnormality	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0001507	HP:0001507	Growth abnormality	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0001507	HP:0001507	Growth abnormality	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001507	HP:0001507	Growth abnormality	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001507	HP:0001507	Growth abnormality	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0001507	HP:0001507	Growth abnormality	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0001507	HP:0001507	Growth abnormality	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001507	HP:0001507	Growth abnormality	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001507	HP:0001507	Growth abnormality	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001507	HP:0001507	Growth abnormality	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001507	HP:0001507	Growth abnormality	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001507	HP:0001507	Growth abnormality	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001507	HP:0001507	Growth abnormality	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001507	HP:0001507	Growth abnormality	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001507	HP:0001507	Growth abnormality	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0001507	Growth abnormality	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001507	HP:0001507	Growth abnormality	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0001507	HP:0001507	Growth abnormality	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0001507	Growth abnormality	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0001507	Growth abnormality	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0001507	HP:0001507	Growth abnormality	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0001507	HP:0001507	Growth abnormality	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0001507	HP:0001507	Growth abnormality	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0001507	HP:0001507	Growth abnormality	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001507	HP:0001507	Growth abnormality	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0001507	Growth abnormality	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001507	HP:0001507	Growth abnormality	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001507	HP:0001507	Growth abnormality	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001507	HP:0001507	Growth abnormality	0	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency			43
HP:0001507	HP:0001507	Growth abnormality	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0001507	HP:0001507	Growth abnormality	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0001507	HP:0001507	Growth abnormality	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0001507	HP:0001507	Growth abnormality	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0001507	HP:0001507	Growth abnormality	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0001507	HP:0001507	Growth abnormality	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0001507	HP:0001507	Growth abnormality	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0001507	HP:0001507	Growth abnormality	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0001507	HP:0001507	Growth abnormality	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0001507	HP:0001507	Growth abnormality	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0001507	HP:0001507	Growth abnormality	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0001507	HP:0001507	Growth abnormality	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0001507	HP:0001507	Growth abnormality	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001507	HP:0001507	Growth abnormality	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001507	HP:0001507	Growth abnormality	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001507	HP:0001507	Growth abnormality	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0001507	HP:0001507	Growth abnormality	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001507	HP:0001507	Growth abnormality	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0001507	HP:0001507	Growth abnormality	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001507	HP:0001507	Growth abnormality	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0001507	HP:0001507	Growth abnormality	0	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0001507	HP:0001507	Growth abnormality	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001507	HP:0001507	Growth abnormality	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001507	HP:0001507	Growth abnormality	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001507	HP:0001507	Growth abnormality	0	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0001507	HP:0001507	Growth abnormality	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension			55
HP:0001507	HP:0001507	Growth abnormality	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis			19
HP:0001507	HP:0001507	Growth abnormality	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0001507	HP:0001507	Growth abnormality	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0001507	HP:0001507	Growth abnormality	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0001507	HP:0001507	Growth abnormality	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0001507	HP:0001507	Growth abnormality	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0001507	HP:0001507	Growth abnormality	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0001507	HP:0001507	Growth abnormality	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0001507	HP:0001507	Growth abnormality	0	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0001507	HP:0001507	Growth abnormality	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0001507	HP:0001507	Growth abnormality	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0001507	HP:0001507	Growth abnormality	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0001507	HP:0001507	Growth abnormality	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0001507	HP:0001507	Growth abnormality	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0001507	HP:0001507	Growth abnormality	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0001507	HP:0001507	Growth abnormality	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0001507	HP:0001507	Growth abnormality	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001507	HP:0001507	Growth abnormality	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0001507	HP:0001507	Growth abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0001507	HP:0001507	Growth abnormality	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0001507	HP:0001507	Growth abnormality	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0001507	HP:0001507	Growth abnormality	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0001507	HP:0001507	Growth abnormality	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0001507	HP:0001507	Growth abnormality	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0001507	HP:0001507	Growth abnormality	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001507	HP:0001507	Growth abnormality	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0001507	HP:0001507	Growth abnormality	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0001507	HP:0001507	Growth abnormality	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0001507	HP:0001507	Growth abnormality	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0001507	HP:0001507	Growth abnormality	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0001507	HP:0001507	Growth abnormality	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0001507	HP:0001507	Growth abnormality	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0001507	HP:0001507	Growth abnormality	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0001507	HP:0001507	Growth abnormality	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001507	HP:0001507	Growth abnormality	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0001507	HP:0001507	Growth abnormality	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001507	HP:0001507	Growth abnormality	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0001507	Growth abnormality	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001507	HP:0001507	Growth abnormality	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0001507	HP:0001507	Growth abnormality	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001507	HP:0001507	Growth abnormality	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0001507	HP:0001507	Growth abnormality	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001507	HP:0001507	Growth abnormality	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0001507	HP:0001507	Growth abnormality	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0001507	Growth abnormality	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0001507	HP:0001507	Growth abnormality	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0001507	HP:0001507	Growth abnormality	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001507	HP:0001507	Growth abnormality	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0001507	HP:0001507	Growth abnormality	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0001507	HP:0001507	Growth abnormality	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001507	HP:0001507	Growth abnormality	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0001507	HP:0001507	Growth abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0001507	Growth abnormality	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0001507	HP:0001507	Growth abnormality	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0001507	HP:0001507	Growth abnormality	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001507	HP:0001507	Growth abnormality	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0001507	Growth abnormality	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0001507	HP:0001507	Growth abnormality	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0001507	HP:0001507	Growth abnormality	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0001507	HP:0001507	Growth abnormality	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0001507	HP:0001507	Growth abnormality	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001507	HP:0001507	Growth abnormality	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0001507	HP:0001507	Growth abnormality	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0001507	HP:0001507	Growth abnormality	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001507	HP:0001507	Growth abnormality	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0001507	HP:0001507	Growth abnormality	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0001507	HP:0001507	Growth abnormality	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0001507	Growth abnormality	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0001507	HP:0001507	Growth abnormality	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0001507	HP:0001507	Growth abnormality	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0001507	HP:0001507	Growth abnormality	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial			149
HP:0001507	HP:0001507	Growth abnormality	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001507	HP:0001507	Growth abnormality	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001507	HP:0001507	Growth abnormality	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001507	HP:0001507	Growth abnormality	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001507	HP:0001507	Growth abnormality	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001507	HP:0001507	Growth abnormality	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001507	HP:0001507	Growth abnormality	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0001507	HP:0001507	Growth abnormality	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001507	HP:0001507	Growth abnormality	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0001507	HP:0001507	Growth abnormality	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001507	HP:0001507	Growth abnormality	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001507	HP:0001507	Growth abnormality	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0001507	HP:0001507	Growth abnormality	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0001507	HP:0001507	Growth abnormality	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0001507	HP:0001507	Growth abnormality	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0001507	HP:0001507	Growth abnormality	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0001507	HP:0001507	Growth abnormality	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0001507	HP:0001507	Growth abnormality	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001507	HP:0001507	Growth abnormality	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0001507	HP:0001507	Growth abnormality	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0001507	HP:0001507	Growth abnormality	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001507	HP:0001507	Growth abnormality	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001507	HP:0001507	Growth abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0001507	HP:0001507	Growth abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0001507	HP:0001507	Growth abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0001507	HP:0001507	Growth abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0001507	HP:0001507	Growth abnormality	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0001507	HP:0001507	Growth abnormality	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001507	HP:0001507	Growth abnormality	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001507	HP:0001507	Growth abnormality	0	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency			5
HP:0001507	HP:0001507	Growth abnormality	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0001507	HP:0001507	Growth abnormality	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0001507	HP:0001507	Growth abnormality	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0001507	HP:0001507	Growth abnormality	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0001507	HP:0001507	Growth abnormality	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0001507	HP:0001507	Growth abnormality	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0001507	Growth abnormality	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0001507	HP:0001507	Growth abnormality	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0001507	HP:0001507	Growth abnormality	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0001507	Growth abnormality	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0001507	HP:0001507	Growth abnormality	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0001507	HP:0001507	Growth abnormality	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0001507	HP:0001507	Growth abnormality	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001507	HP:0001507	Growth abnormality	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001507	HP:0001507	Growth abnormality	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0001507	HP:0001507	Growth abnormality	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0001507	HP:0001507	Growth abnormality	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001507	HP:0001507	Growth abnormality	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001507	HP:0001507	Growth abnormality	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0001507	Growth abnormality	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001507	HP:0001507	Growth abnormality	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001507	HP:0001507	Growth abnormality	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0001507	HP:0001507	Growth abnormality	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0001507	HP:0001507	Growth abnormality	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001507	HP:0001507	Growth abnormality	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0001507	HP:0001507	Growth abnormality	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0001507	HP:0001507	Growth abnormality	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001507	HP:0001507	Growth abnormality	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0001507	HP:0001507	Growth abnormality	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0001507	HP:0001507	Growth abnormality	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0001507	HP:0001507	Growth abnormality	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0001507	HP:0001507	Growth abnormality	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001507	HP:0001507	Growth abnormality	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0001507	HP:0001507	Growth abnormality	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001507	HP:0001507	Growth abnormality	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0001507	HP:0001507	Growth abnormality	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001507	HP:0001507	Growth abnormality	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001507	HP:0001507	Growth abnormality	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001507	HP:0001507	Growth abnormality	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0001507	HP:0001507	Growth abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001507	HP:0001507	Growth abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001507	HP:0001507	Growth abnormality	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001507	HP:0001507	Growth abnormality	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY			1
HP:0001507	HP:0001507	Growth abnormality	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0001507	HP:0001507	Growth abnormality	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0001507	HP:0001507	Growth abnormality	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001507	HP:0001507	Growth abnormality	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0001507	HP:0001507	Growth abnormality	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0001507	HP:0001507	Growth abnormality	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0001507	HP:0001507	Growth abnormality	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0001507	HP:0001507	Growth abnormality	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001507	HP:0001507	Growth abnormality	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency			5
HP:0001507	HP:0001507	Growth abnormality	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0001507	HP:0001507	Growth abnormality	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0001507	Growth abnormality	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0001507	HP:0001507	Growth abnormality	0	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11			108
HP:0001507	HP:0001507	Growth abnormality	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8			108
HP:0001507	HP:0001507	Growth abnormality	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0001507	HP:0001507	Growth abnormality	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001507	HP:0001507	Growth abnormality	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001507	HP:0001507	Growth abnormality	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0001507	HP:0001507	Growth abnormality	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001507	HP:0001507	Growth abnormality	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001507	HP:0001507	Growth abnormality	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0001507	HP:0001507	Growth abnormality	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0001507	HP:0001507	Growth abnormality	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0001507	HP:0001507	Growth abnormality	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0001507	HP:0001507	Growth abnormality	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0001507	Growth abnormality	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0001507	HP:0001507	Growth abnormality	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0001507	HP:0001507	Growth abnormality	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0001507	HP:0001507	Growth abnormality	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0001507	HP:0001507	Growth abnormality	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001507	HP:0001507	Growth abnormality	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001507	HP:0001507	Growth abnormality	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001507	HP:0001507	Growth abnormality	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0001507	HP:0001507	Growth abnormality	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001507	HP:0001507	Growth abnormality	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001507	HP:0001507	Growth abnormality	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001507	Growth abnormality	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001507	HP:0001507	Growth abnormality	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0001507	HP:0001507	Growth abnormality	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0001507	HP:0001507	Growth abnormality	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0001507	HP:0001507	Growth abnormality	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0001507	Growth abnormality	0	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0001507	HP:0001507	Growth abnormality	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001507	HP:0001507	Growth abnormality	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001507	HP:0001507	Growth abnormality	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0001507	HP:0001507	Growth abnormality	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0001507	HP:0001507	Growth abnormality	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0001507	HP:0001507	Growth abnormality	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0001507	HP:0001507	Growth abnormality	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor			97
HP:0001507	HP:0001507	Growth abnormality	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0001507	HP:0001507	Growth abnormality	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0001507	HP:0001507	Growth abnormality	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001507	Growth abnormality	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome			132
HP:0001507	HP:0001507	Growth abnormality	0	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0001507	HP:0001507	Growth abnormality	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001507	HP:0001507	Growth abnormality	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001507	HP:0001507	Growth abnormality	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001507	HP:0001507	Growth abnormality	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0001507	HP:0001507	Growth abnormality	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0001507	HP:0001507	Growth abnormality	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0001507	HP:0001507	Growth abnormality	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0001507	HP:0001507	Growth abnormality	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0001507	HP:0001507	Growth abnormality	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001507	HP:0001507	Growth abnormality	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis			107
HP:0001507	HP:0001507	Growth abnormality	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0001507	HP:0001507	Growth abnormality	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0001507	Growth abnormality	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001507	HP:0001507	Growth abnormality	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0001507	HP:0001507	Growth abnormality	0	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0001507	HP:0001507	Growth abnormality	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0001507	HP:0001507	Growth abnormality	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0001507	HP:0001507	Growth abnormality	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0001507	HP:0001507	Growth abnormality	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0001507	HP:0001507	Growth abnormality	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0001507	HP:0001507	Growth abnormality	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0001507	HP:0001507	Growth abnormality	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0001507	HP:0001507	Growth abnormality	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0001507	HP:0001507	Growth abnormality	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0001507	HP:0001507	Growth abnormality	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0001507	HP:0001507	Growth abnormality	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001507	HP:0001507	Growth abnormality	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001507	HP:0001507	Growth abnormality	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0001507	HP:0001507	Growth abnormality	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0001507	HP:0001507	Growth abnormality	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0001507	HP:0001507	Growth abnormality	0	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0001507	Growth abnormality	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0001507	HP:0001507	Growth abnormality	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001507	HP:0001507	Growth abnormality	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0001507	HP:0001507	Growth abnormality	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0001507	Growth abnormality	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001507	HP:0001507	Growth abnormality	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0001507	HP:0001507	Growth abnormality	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001507	HP:0001507	Growth abnormality	0	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T			2
HP:0001507	HP:0001507	Growth abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0001507	HP:0001507	Growth abnormality	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0001507	HP:0001507	Growth abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0001507	HP:0001507	Growth abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0001507	HP:0001507	Growth abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0001507	HP:0001507	Growth abnormality	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001507	HP:0001507	Growth abnormality	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0001507	HP:0001507	Growth abnormality	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0001507	HP:0001507	Growth abnormality	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001507	HP:0001507	Growth abnormality	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001507	HP:0001507	Growth abnormality	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001507	HP:0001507	Growth abnormality	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0001507	HP:0001507	Growth abnormality	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0001507	HP:0001507	Growth abnormality	0	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0001507	HP:0001507	Growth abnormality	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0001507	HP:0001507	Growth abnormality	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001507	Growth abnormality	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0001507	HP:0001507	Growth abnormality	0	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0001507	HP:0001507	Growth abnormality	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0001507	HP:0001507	Growth abnormality	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001507	HP:0001507	Growth abnormality	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001507	HP:0001507	Growth abnormality	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001507	HP:0001507	Growth abnormality	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0001507	Growth abnormality	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0001507	HP:0001507	Growth abnormality	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0001507	HP:0001507	Growth abnormality	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0001507	HP:0001507	Growth abnormality	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001507	HP:0001507	Growth abnormality	0	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0001507	HP:0001507	Growth abnormality	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001507	HP:0001507	Growth abnormality	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001507	HP:0001507	Growth abnormality	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0001507	HP:0001507	Growth abnormality	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0001507	HP:0001507	Growth abnormality	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0001507	HP:0001507	Growth abnormality	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0001507	HP:0001507	Growth abnormality	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0001507	Growth abnormality	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0001507	HP:0001507	Growth abnormality	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001507	HP:0001507	Growth abnormality	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001507	HP:0001507	Growth abnormality	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001507	HP:0001507	Growth abnormality	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0001507	HP:0001507	Growth abnormality	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001507	HP:0001507	Growth abnormality	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0001507	HP:0001507	Growth abnormality	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001507	HP:0001507	Growth abnormality	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001507	HP:0001507	Growth abnormality	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0001507	HP:0001507	Growth abnormality	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0001507	HP:0001507	Growth abnormality	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001507	HP:0001507	Growth abnormality	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001507	HP:0001507	Growth abnormality	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0001507	HP:0001507	Growth abnormality	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0001507	HP:0001507	Growth abnormality	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0001507	HP:0001507	Growth abnormality	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0001507	HP:0001507	Growth abnormality	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0001507	HP:0001507	Growth abnormality	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001507	HP:0001507	Growth abnormality	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0001507	HP:0001507	Growth abnormality	0	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0001507	HP:0001507	Growth abnormality	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0001507	HP:0001507	Growth abnormality	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001507	HP:0001507	Growth abnormality	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0001507	Growth abnormality	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001507	HP:0001507	Growth abnormality	0	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0001507	HP:0001507	Growth abnormality	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001507	HP:0001507	Growth abnormality	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0001507	HP:0001507	Growth abnormality	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001507	HP:0001507	Growth abnormality	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0001507	HP:0001507	Growth abnormality	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001507	HP:0001507	Growth abnormality	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0001507	HP:0001507	Growth abnormality	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001507	HP:0001507	Growth abnormality	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001507	HP:0001507	Growth abnormality	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0001507	HP:0001507	Growth abnormality	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0001507	HP:0001507	Growth abnormality	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0001507	HP:0001507	Growth abnormality	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0001507	HP:0001507	Growth abnormality	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0001507	HP:0001507	Growth abnormality	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0001507	HP:0001507	Growth abnormality	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001507	HP:0001507	Growth abnormality	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001507	HP:0001507	Growth abnormality	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001507	HP:0001507	Growth abnormality	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0001507	HP:0001507	Growth abnormality	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0001507	HP:0001507	Growth abnormality	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0001507	HP:0001507	Growth abnormality	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0001507	HP:0001507	Growth abnormality	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome			95
HP:0001507	HP:0001507	Growth abnormality	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0001507	HP:0001507	Growth abnormality	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0001507	HP:0001507	Growth abnormality	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0001507	HP:0001507	Growth abnormality	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0001507	HP:0001507	Growth abnormality	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0001507	HP:0001507	Growth abnormality	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001507	HP:0001507	Growth abnormality	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001507	HP:0001507	Growth abnormality	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0001507	HP:0001507	Growth abnormality	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001507	Growth abnormality	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001507	HP:0001507	Growth abnormality	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001507	HP:0001507	Growth abnormality	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0001507	HP:0001507	Growth abnormality	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001507	HP:0001507	Growth abnormality	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001507	HP:0001507	Growth abnormality	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0001507	HP:0001507	Growth abnormality	0	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0001507	HP:0001507	Growth abnormality	0	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			389
HP:0001507	HP:0001507	Growth abnormality	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0001507	HP:0001507	Growth abnormality	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0001507	HP:0001507	Growth abnormality	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0001507	HP:0001507	Growth abnormality	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0001507	HP:0001507	Growth abnormality	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001507	HP:0001507	Growth abnormality	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV			12
HP:0001507	HP:0001507	Growth abnormality	0	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9			1
HP:0001507	HP:0001507	Growth abnormality	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001507	HP:0001507	Growth abnormality	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0001507	HP:0001507	Growth abnormality	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001507	HP:0001507	Growth abnormality	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0001507	HP:0001507	Growth abnormality	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0001507	HP:0001507	Growth abnormality	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0001507	HP:0001507	Growth abnormality	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0001507	HP:0001507	Growth abnormality	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0001507	HP:0001507	Growth abnormality	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0001507	HP:0001507	Growth abnormality	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0001507	HP:0001507	Growth abnormality	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0001507	HP:0001507	Growth abnormality	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0001507	HP:0001507	Growth abnormality	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0001507	HP:0001507	Growth abnormality	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0001507	HP:0001507	Growth abnormality	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0001507	HP:0001507	Growth abnormality	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0001507	HP:0001507	Growth abnormality	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0001507	HP:0001507	Growth abnormality	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001507	HP:0001507	Growth abnormality	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0001507	HP:0001507	Growth abnormality	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0001507	HP:0001507	Growth abnormality	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0001507	HP:0001507	Growth abnormality	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis			4
HP:0001507	HP:0001507	Growth abnormality	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001507	HP:0001507	Growth abnormality	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U			125
HP:0001507	HP:0001507	Growth abnormality	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0001507	Growth abnormality	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0001507	Growth abnormality	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0001507	HP:0001507	Growth abnormality	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001507	HP:0001507	Growth abnormality	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0001507	HP:0001507	Growth abnormality	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001507	HP:0001507	Growth abnormality	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001507	HP:0001507	Growth abnormality	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001507	HP:0001507	Growth abnormality	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0001507	HP:0001507	Growth abnormality	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0001507	HP:0001507	Growth abnormality	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001507	Growth abnormality	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001507	HP:0001507	Growth abnormality	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0001507	HP:0001507	Growth abnormality	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0001507	HP:0001507	Growth abnormality	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0001507	HP:0001507	Growth abnormality	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0001507	HP:0001507	Growth abnormality	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001507	HP:0001507	Growth abnormality	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0001507	HP:0001507	Growth abnormality	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001507	HP:0001507	Growth abnormality	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0001507	HP:0001507	Growth abnormality	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0001507	HP:0001507	Growth abnormality	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001507	HP:0001507	Growth abnormality	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001507	HP:0001507	Growth abnormality	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001507	HP:0001507	Growth abnormality	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0001507	HP:0001507	Growth abnormality	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0001507	HP:0001507	Growth abnormality	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0001507	HP:0001507	Growth abnormality	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0001507	HP:0001507	Growth abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0001507	HP:0001507	Growth abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0001507	HP:0001507	Growth abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001507	HP:0001507	Growth abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0001507	HP:0001507	Growth abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0001507	HP:0001507	Growth abnormality	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0001507	Growth abnormality	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001507	HP:0001507	Growth abnormality	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001507	HP:0001507	Growth abnormality	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001507	HP:0001507	Growth abnormality	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0001507	HP:0001507	Growth abnormality	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0001507	HP:0001507	Growth abnormality	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001507	HP:0001507	Growth abnormality	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001507	HP:0001507	Growth abnormality	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001507	HP:0001507	Growth abnormality	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0001507	HP:0001507	Growth abnormality	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0001507	HP:0001507	Growth abnormality	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0001507	HP:0001507	Growth abnormality	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0001507	HP:0001507	Growth abnormality	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0001507	HP:0001507	Growth abnormality	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0001507	HP:0001507	Growth abnormality	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0001507	HP:0001507	Growth abnormality	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0001507	HP:0001507	Growth abnormality	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0001507	Growth abnormality	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0001507	HP:0001507	Growth abnormality	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001507	HP:0001507	Growth abnormality	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0001507	HP:0001507	Growth abnormality	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0001507	Growth abnormality	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0001507	HP:0001507	Growth abnormality	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001507	Growth abnormality	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0001507	HP:0025521	Increased body fat percentage	1	CL E G H
HP:0001507	HP:0033795	Growth without growth hormone	1	CL E G H
HP:0001507	HP:0041079	Decreased body fat percentage	1	CL E G H
HP:0001507	HP:0000002	Abnormality of body height	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0001507	HP:0001510	Growth delay	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0001507	HP:0000002	Abnormality of body height	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0001507	HP:0001510	Growth delay	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0001507	HP:0000002	Abnormality of body height	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001507	HP:0001510	Growth delay	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001507	HP:0004323	Abnormality of body weight	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001507	HP:0000002	Abnormality of body height	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001507	HP:0000002	Abnormality of body height	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0001507	HP:0001510	Growth delay	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0001507	HP:0004323	Abnormality of body weight	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0001507	HP:0000002	Abnormality of body height	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria			15
HP:0001507	HP:0001510	Growth delay	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria			15
HP:0001507	HP:0000002	Abnormality of body height	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0001507	HP:0000002	Abnormality of body height	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0001507	HP:0001510	Growth delay	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0001507	HP:0000002	Abnormality of body height	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0001507	HP:0001510	Growth delay	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0001507	HP:0000002	Abnormality of body height	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0001507	HP:0001510	Growth delay	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0001507	HP:0000002	Abnormality of body height	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0001507	HP:0001510	Growth delay	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0001507	HP:0001510	Growth delay	1	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent			245
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0001507	HP:0001510	Growth delay	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0001507	HP:0001510	Growth delay	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0001507	HP:0001510	Growth delay	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001507	HP:0000002	Abnormality of body height	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0001507	HP:0001510	Growth delay	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0001507	HP:0001510	Growth delay	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0001507	HP:0004323	Abnormality of body weight	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001507	HP:0000002	Abnormality of body height	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001507	HP:0001510	Growth delay	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001507	HP:0000002	Abnormality of body height	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001507	HP:0001510	Growth delay	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001507	HP:0004323	Abnormality of body weight	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001507	HP:0001510	Growth delay	1	ACACA CL E G H	31	84	OMIM:613933	Acetyl-CoA carboxylase deficiency	.
HP:0001507	HP:0004323	Abnormality of body weight	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0001507	HP:0004323	Abnormality of body weight	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0001507	HP:0004323	Abnormality of body weight	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0001507	HP:0001510	Growth delay	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0001507	HP:0004323	Abnormality of body weight	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0001507	HP:0004323	Abnormality of body weight	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001507	HP:0000002	Abnormality of body height	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans			34
HP:0001507	HP:0001510	Growth delay	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans			34
HP:0001507	HP:0000002	Abnormality of body height	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0001507	HP:0000002	Abnormality of body height	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0001507	HP:0001510	Growth delay	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0001507	HP:0001510	Growth delay	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0001507	HP:0000002	Abnormality of body height	1	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0000002	Abnormality of body height	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0001510	Growth delay	1	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0001510	Growth delay	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0004323	Abnormality of body weight	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0001507	HP:0001510	Growth delay	1	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6			11
HP:0001507	HP:0000002	Abnormality of body height	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0001507	HP:0001510	Growth delay	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0001507	HP:0004323	Abnormality of body weight	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0001507	HP:0001510	Growth delay	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0001507	HP:0004323	Abnormality of body weight	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0001507	HP:0004323	Abnormality of body weight	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0001507	HP:0000002	Abnormality of body height	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001507	HP:0001510	Growth delay	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001507	HP:0000002	Abnormality of body height	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0001507	HP:0001510	Growth delay	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0001507	HP:0004323	Abnormality of body weight	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0001507	HP:0004323	Abnormality of body weight	1	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0001507	HP:0000002	Abnormality of body height	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001507	HP:0000002	Abnormality of body height	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001507	HP:0000002	Abnormality of body height	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0001507	HP:0001510	Growth delay	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0001507	HP:0000002	Abnormality of body height	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001507	HP:0001510	Growth delay	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001507	HP:0100555	Asymmetric growth	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0001507	HP:0000002	Abnormality of body height	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0001507	HP:0001510	Growth delay	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0001507	HP:0001510	Growth delay	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0001507	HP:0000002	Abnormality of body height	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0001507	HP:0001510	Growth delay	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0001507	HP:0030853	Heterotaxy	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0001507	HP:0000002	Abnormality of body height	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0001510	Growth delay	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0004323	Abnormality of body weight	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0004323	Abnormality of body weight	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0001507	HP:0004323	Abnormality of body weight	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001507	HP:0004323	Abnormality of body weight	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency			75
HP:0001507	HP:0004323	Abnormality of body weight	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001507	HP:0000002	Abnormality of body height	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001510	Growth delay	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0004323	Abnormality of body weight	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0001507	HP:0000002	Abnormality of body height	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0001507	HP:0001510	Growth delay	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0001507	HP:0000002	Abnormality of body height	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001507	HP:0001510	Growth delay	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001507	HP:0000002	Abnormality of body height	1	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4			214
HP:0001507	HP:0001510	Growth delay	1	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4			214
HP:0001507	HP:0000002	Abnormality of body height	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0001507	HP:0001510	Growth delay	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0001507	HP:0000002	Abnormality of body height	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0001507	HP:0001510	Growth delay	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0001507	HP:0001510	Growth delay	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0001507	HP:0001510	Growth delay	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0001507	HP:0000002	Abnormality of body height	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0001507	HP:0001510	Growth delay	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0001507	HP:0000002	Abnormality of body height	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0001507	HP:0001510	Growth delay	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0001507	HP:0001510	Growth delay	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0001507	HP:0004323	Abnormality of body weight	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0001507	HP:0000002	Abnormality of body height	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001507	HP:0001510	Growth delay	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001507	HP:0000002	Abnormality of body height	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001507	HP:0001510	Growth delay	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0001507	HP:0001510	Growth delay	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0001507	HP:0004323	Abnormality of body weight	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0001507	HP:0004323	Abnormality of body weight	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0001507	HP:0004323	Abnormality of body weight	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001507	HP:0001510	Growth delay	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0001507	HP:0001510	Growth delay	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001507	HP:0004323	Abnormality of body weight	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001507	HP:0000002	Abnormality of body height	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001507	HP:0001510	Growth delay	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001507	HP:0004323	Abnormality of body weight	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001507	HP:0004323	Abnormality of body weight	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001507	HP:0000002	Abnormality of body height	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0001507	HP:0001510	Growth delay	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0001507	HP:0004323	Abnormality of body weight	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0001507	HP:0000002	Abnormality of body height	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0001507	HP:0001510	Growth delay	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0001507	HP:0004323	Abnormality of body weight	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0001507	HP:0004323	Abnormality of body weight	1	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0001507	HP:0004323	Abnormality of body weight	1	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0001507	HP:0001510	Growth delay	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0001507	HP:0000002	Abnormality of body height	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0001507	HP:0001510	Growth delay	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0001507	HP:0000002	Abnormality of body height	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001507	HP:0001510	Growth delay	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001507	HP:0000002	Abnormality of body height	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001507	HP:0001510	Growth delay	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001507	HP:0004323	Abnormality of body weight	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001507	HP:0000002	Abnormality of body height	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001507	HP:0001510	Growth delay	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001507	HP:0001510	Growth delay	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0001507	HP:0001510	Growth delay	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0001507	HP:0004323	Abnormality of body weight	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0000002	Abnormality of body height	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001507	HP:0100555	Asymmetric growth	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001507	HP:0001510	Growth delay	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0001507	HP:0000002	Abnormality of body height	1	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0001507	HP:0001510	Growth delay	1	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0001507	HP:0000002	Abnormality of body height	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0001507	HP:0001510	Growth delay	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0001507	HP:0000002	Abnormality of body height	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001507	HP:0004323	Abnormality of body weight	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001507	HP:0000002	Abnormality of body height	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0001507	HP:0000002	Abnormality of body height	1	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0001507	HP:0001510	Growth delay	1	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0001507	HP:0004323	Abnormality of body weight	1	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0001507	HP:0004323	Abnormality of body weight	1	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0001507	HP:0004323	Abnormality of body weight	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0001507	HP:0004323	Abnormality of body weight	1	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0001507	HP:0004323	Abnormality of body weight	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0001507	HP:0001510	Growth delay	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0001507	HP:0004323	Abnormality of body weight	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001507	HP:0004323	Abnormality of body weight	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0001507	HP:0004323	Abnormality of body weight	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0001507	HP:0004323	Abnormality of body weight	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0001507	HP:0004323	Abnormality of body weight	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0000002	Abnormality of body height	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0001507	HP:0001510	Growth delay	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0000002	Abnormality of body height	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0001507	HP:0001510	Growth delay	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0001507	HP:0004323	Abnormality of body weight	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0001507	HP:0001510	Growth delay	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0001507	HP:0000002	Abnormality of body height	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0001507	HP:0004323	Abnormality of body weight	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0001507	HP:0033794	Acral overgrowth	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1			95
HP:0001507	HP:0000002	Abnormality of body height	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001507	HP:0001510	Growth delay	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0001507	HP:0004323	Abnormality of body weight	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0001507	HP:0004323	Abnormality of body weight	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0001507	HP:0001510	Growth delay	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0001507	HP:0004323	Abnormality of body weight	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0001507	HP:0000002	Abnormality of body height	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0001507	HP:0001510	Growth delay	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0001507	HP:0004323	Abnormality of body weight	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0001507	HP:0004323	Abnormality of body weight	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0001507	HP:0000002	Abnormality of body height	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0001507	HP:0100555	Asymmetric growth	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0001507	HP:0004323	Abnormality of body weight	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0001507	HP:0100555	Asymmetric growth	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0001507	HP:0004323	Abnormality of body weight	1	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0001507	HP:0100555	Asymmetric growth	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0001507	HP:0004323	Abnormality of body weight	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0001507	HP:0100555	Asymmetric growth	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0001507	HP:0004323	Abnormality of body weight	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0001507	HP:0004323	Abnormality of body weight	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001507	HP:0004323	Abnormality of body weight	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0001507	HP:0001510	Growth delay	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0001507	HP:0000002	Abnormality of body height	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0001507	HP:0001510	Growth delay	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0001507	HP:0001510	Growth delay	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0001507	HP:0000002	Abnormality of body height	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0001507	HP:0001510	Growth delay	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0001507	HP:0004323	Abnormality of body weight	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0001507	HP:0000002	Abnormality of body height	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0001507	HP:0001510	Growth delay	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0001507	HP:0000002	Abnormality of body height	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0001507	HP:0001510	Growth delay	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0001507	HP:0000002	Abnormality of body height	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0001507	HP:0001510	Growth delay	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0001507	HP:0000002	Abnormality of body height	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0001507	HP:0001510	Growth delay	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0001507	HP:0001510	Growth delay	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional		50
HP:0001507	HP:0000002	Abnormality of body height	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001507	HP:0001510	Growth delay	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001507	HP:0004323	Abnormality of body weight	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0001507	HP:0001510	Growth delay	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040282 - Frequent		73
HP:0001507	HP:0001510	Growth delay	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0001507	HP:0001510	Growth delay	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001507	HP:0000002	Abnormality of body height	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0001510	Growth delay	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0001507	HP:0000002	Abnormality of body height	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001507	HP:0001510	Growth delay	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0001507	HP:0001510	Growth delay	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001507	HP:0001510	Growth delay	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001507	HP:0000002	Abnormality of body height	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001507	HP:0001510	Growth delay	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001507	HP:0004323	Abnormality of body weight	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001507	HP:0000002	Abnormality of body height	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001507	HP:0001510	Growth delay	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001507	HP:0004323	Abnormality of body weight	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001507	HP:0000002	Abnormality of body height	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001507	HP:0001510	Growth delay	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001507	HP:0004323	Abnormality of body weight	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001507	HP:0000002	Abnormality of body height	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0001507	HP:0001510	Growth delay	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0001507	HP:0004323	Abnormality of body weight	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0001507	HP:0001510	Growth delay	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		75
HP:0001507	HP:0000002	Abnormality of body height	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0001507	HP:0001510	Growth delay	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0001507	HP:0000002	Abnormality of body height	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0001507	HP:0001510	Growth delay	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0001507	HP:0004323	Abnormality of body weight	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0001507	HP:0001510	Growth delay	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		63
HP:0001507	HP:0000002	Abnormality of body height	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0001507	HP:0001510	Growth delay	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0001507	HP:0000002	Abnormality of body height	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood			126
HP:0001507	HP:0001510	Growth delay	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood			126
HP:0001507	HP:0000002	Abnormality of body height	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001507	HP:0001510	Growth delay	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001507	HP:0004323	Abnormality of body weight	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001507	HP:0000002	Abnormality of body height	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001507	HP:0001510	Growth delay	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001507	HP:0004323	Abnormality of body weight	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0001507	HP:0001510	Growth delay	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001507	HP:0001510	Growth delay	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0001507	HP:0001510	Growth delay	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0001507	HP:0004323	Abnormality of body weight	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0001507	HP:0000002	Abnormality of body height	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001507	HP:0001510	Growth delay	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001507	HP:0004323	Abnormality of body weight	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001507	HP:0000002	Abnormality of body height	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0001507	HP:0001510	Growth delay	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001507	HP:0001510	Growth delay	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001507	HP:0000002	Abnormality of body height	1	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0001507	HP:0001510	Growth delay	1	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0001507	HP:0004323	Abnormality of body weight	1	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0001507	HP:0000002	Abnormality of body height	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0001507	HP:0001510	Growth delay	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0001507	HP:0000002	Abnormality of body height	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0001507	HP:0001510	Growth delay	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0001507	HP:0000002	Abnormality of body height	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0001507	HP:0001510	Growth delay	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0001507	HP:0000002	Abnormality of body height	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001507	HP:0001510	Growth delay	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0001507	HP:0001510	Growth delay	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		150
HP:0001507	HP:0004323	Abnormality of body weight	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0001507	HP:0000002	Abnormality of body height	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0001507	HP:0001510	Growth delay	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0000002	Abnormality of body height	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0001507	HP:0001510	Growth delay	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0001507	HP:0000002	Abnormality of body height	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0001507	HP:0000002	Abnormality of body height	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0001507	HP:0001510	Growth delay	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0001507	HP:0001510	Growth delay	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0001507	HP:0000002	Abnormality of body height	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0001507	HP:0001510	Growth delay	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0001507	HP:0001510	Growth delay	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0001510	Growth delay	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001507	HP:0004323	Abnormality of body weight	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0001507	HP:0001510	Growth delay	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0001507	HP:0004323	Abnormality of body weight	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0001507	HP:0000002	Abnormality of body height	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0001507	HP:0001510	Growth delay	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0001507	HP:0001510	Growth delay	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0004323	Abnormality of body weight	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0001507	HP:0000002	Abnormality of body height	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0001507	HP:0001510	Growth delay	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0001507	HP:0004323	Abnormality of body weight	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0001507	HP:0000002	Abnormality of body height	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001507	HP:0001510	Growth delay	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001507	HP:0004323	Abnormality of body weight	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001507	HP:0001510	Growth delay	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0001507	HP:0000002	Abnormality of body height	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0001507	HP:0001510	Growth delay	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0001507	HP:0000002	Abnormality of body height	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001507	HP:0001510	Growth delay	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001507	HP:0004323	Abnormality of body weight	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001507	HP:0000002	Abnormality of body height	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0001507	HP:0001510	Growth delay	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0001507	HP:0004323	Abnormality of body weight	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0001507	HP:0000002	Abnormality of body height	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0001507	HP:0001510	Growth delay	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0001507	HP:0000002	Abnormality of body height	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0001507	HP:0001510	Growth delay	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0001507	HP:0004323	Abnormality of body weight	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0001507	HP:0000002	Abnormality of body height	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0001507	HP:0001510	Growth delay	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0001507	HP:0000002	Abnormality of body height	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0001507	HP:0001510	Growth delay	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0001507	HP:0004323	Abnormality of body weight	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0001507	HP:0000002	Abnormality of body height	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0001507	HP:0001510	Growth delay	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0001507	HP:0004323	Abnormality of body weight	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0001507	HP:0000002	Abnormality of body height	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0001507	HP:0001510	Growth delay	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0001507	HP:0000002	Abnormality of body height	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0001507	HP:0001510	Growth delay	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0001507	HP:0004323	Abnormality of body weight	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0001507	HP:0000002	Abnormality of body height	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0001507	HP:0001510	Growth delay	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0001507	HP:0004323	Abnormality of body weight	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0001507	HP:0000002	Abnormality of body height	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0001507	HP:0001510	Growth delay	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional		75
HP:0001507	HP:0004323	Abnormality of body weight	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0001507	HP:0000002	Abnormality of body height	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0001507	HP:0001510	Growth delay	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome			125
HP:0001507	HP:0004323	Abnormality of body weight	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias			125
HP:0001507	HP:0000002	Abnormality of body height	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001507	HP:0001510	Growth delay	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0001507	HP:0001510	Growth delay	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0001507	HP:0004323	Abnormality of body weight	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001507	HP:0004323	Abnormality of body weight	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0001507	HP:0001510	Growth delay	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0001507	HP:0000002	Abnormality of body height	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001507	HP:0001510	Growth delay	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001507	HP:0000002	Abnormality of body height	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0001507	HP:0001510	Growth delay	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0001507	HP:0004323	Abnormality of body weight	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0001507	HP:0001510	Growth delay	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0001507	HP:0000002	Abnormality of body height	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001507	HP:0001510	Growth delay	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001507	HP:0001510	Growth delay	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0001507	HP:0000002	Abnormality of body height	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001507	HP:0001510	Growth delay	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001507	HP:0004323	Abnormality of body weight	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0001507	HP:0004323	Abnormality of body weight	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0000002	Abnormality of body height	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0001507	HP:0001510	Growth delay	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0001507	HP:0004323	Abnormality of body weight	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0001507	HP:0004323	Abnormality of body weight	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001507	HP:0004323	Abnormality of body weight	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0001507	HP:0004323	Abnormality of body weight	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0001507	HP:0001510	Growth delay	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0001507	HP:0100555	Asymmetric growth	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0001507	HP:0004323	Abnormality of body weight	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0001507	HP:0004323	Abnormality of body weight	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001507	HP:0000002	Abnormality of body height	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001507	HP:0001510	Growth delay	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001507	HP:0004323	Abnormality of body weight	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001507	HP:0004323	Abnormality of body weight	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001507	HP:0000002	Abnormality of body height	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001507	HP:0001510	Growth delay	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001507	HP:0000002	Abnormality of body height	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001507	HP:0001510	Growth delay	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001507	HP:0000002	Abnormality of body height	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001507	HP:0001510	Growth delay	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001507	HP:0000002	Abnormality of body height	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001507	HP:0001510	Growth delay	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001507	HP:0000002	Abnormality of body height	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0001507	HP:0001510	Growth delay	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0001507	HP:0000002	Abnormality of body height	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001510	Growth delay	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0000002	Abnormality of body height	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001507	HP:0001510	Growth delay	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0001507	HP:0001510	Growth delay	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0001507	HP:0000002	Abnormality of body height	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0001507	HP:0001510	Growth delay	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0001507	HP:0001510	Growth delay	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0001507	HP:0004323	Abnormality of body weight	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001507	HP:0000002	Abnormality of body height	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001507	HP:0001510	Growth delay	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001507	HP:0004323	Abnormality of body weight	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001507	HP:0004323	Abnormality of body weight	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0001507	HP:0004323	Abnormality of body weight	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001507	HP:0004323	Abnormality of body weight	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001507	HP:0000002	Abnormality of body height	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0001507	HP:0001510	Growth delay	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0001507	HP:0004323	Abnormality of body weight	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0001507	HP:0004323	Abnormality of body weight	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0001507	HP:0000002	Abnormality of body height	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0001507	HP:0001510	Growth delay	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		512
HP:0001507	HP:0000002	Abnormality of body height	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0001507	HP:0001510	Growth delay	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0001507	HP:0000002	Abnormality of body height	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0001507	HP:0001510	Growth delay	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0001507	HP:0004323	Abnormality of body weight	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0001507	HP:0004323	Abnormality of body weight	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0001507	HP:0000002	Abnormality of body height	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0000002	Abnormality of body height	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001507	HP:0001510	Growth delay	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0001510	Growth delay	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001507	HP:0004323	Abnormality of body weight	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0004323	Abnormality of body weight	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001507	HP:0004323	Abnormality of body weight	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0001507	HP:0001510	Growth delay	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0001507	HP:0000002	Abnormality of body height	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0001510	Growth delay	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0004323	Abnormality of body weight	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0001510	Growth delay	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0001507	HP:0001510	Growth delay	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0001507	HP:0001510	Growth delay	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040284 - Very rare		71
HP:0001507	HP:0000002	Abnormality of body height	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0001507	HP:0000002	Abnormality of body height	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0001507	HP:0001510	Growth delay	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0001507	HP:0001510	Growth delay	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0001507	HP:0004323	Abnormality of body weight	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0001507	HP:0004323	Abnormality of body weight	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0001507	HP:0004323	Abnormality of body weight	1	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0001507	HP:0000002	Abnormality of body height	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001507	HP:0001510	Growth delay	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0001507	HP:0000002	Abnormality of body height	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001507	HP:0001510	Growth delay	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0001507	HP:0000002	Abnormality of body height	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001507	HP:0001510	Growth delay	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001507	HP:0001510	Growth delay	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0001507	HP:0000002	Abnormality of body height	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001507	HP:0001510	Growth delay	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0001507	HP:0001510	Growth delay	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0001507	HP:0001510	Growth delay	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0001507	HP:0001510	Growth delay	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001507	HP:0001510	Growth delay	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001507	HP:0001510	Growth delay	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001507	HP:0001510	Growth delay	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0001507	HP:0001510	Growth delay	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001510	Growth delay	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001510	Growth delay	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0001507	HP:0001510	Growth delay	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0001507	HP:0001510	Growth delay	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0001507	HP:0000002	Abnormality of body height	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001507	HP:0001510	Growth delay	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001507	HP:0000002	Abnormality of body height	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0001507	HP:0001510	Growth delay	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0001507	HP:0000002	Abnormality of body height	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0001507	HP:0001510	Growth delay	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0001507	HP:0001510	Growth delay	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0001507	HP:0000002	Abnormality of body height	1	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0001507	HP:0001510	Growth delay	1	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0001507	HP:0000002	Abnormality of body height	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0001507	HP:0001510	Growth delay	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0001507	HP:0004323	Abnormality of body weight	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001507	HP:0004323	Abnormality of body weight	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0001507	HP:0000002	Abnormality of body height	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0001507	HP:0001510	Growth delay	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0001507	HP:0004323	Abnormality of body weight	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0001507	HP:0000002	Abnormality of body height	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0001507	HP:0001510	Growth delay	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0001507	HP:0000002	Abnormality of body height	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0001507	HP:0001510	Growth delay	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0001507	HP:0001510	Growth delay	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0001507	HP:0001510	Growth delay	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0001507	HP:0004323	Abnormality of body weight	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001507	HP:0000002	Abnormality of body height	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0001507	HP:0001510	Growth delay	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0001507	HP:0004323	Abnormality of body weight	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0001507	HP:0004323	Abnormality of body weight	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001507	HP:0004323	Abnormality of body weight	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0001507	HP:0004323	Abnormality of body weight	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0001507	HP:0004323	Abnormality of body weight	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0001507	HP:0000002	Abnormality of body height	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001507	HP:0001510	Growth delay	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001507	HP:0004323	Abnormality of body weight	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001507	HP:0000002	Abnormality of body height	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0001507	HP:0001510	Growth delay	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0001507	HP:0004323	Abnormality of body weight	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0001507	HP:0001510	Growth delay	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0001507	HP:0000002	Abnormality of body height	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0001507	HP:0001510	Growth delay	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0001507	HP:0004323	Abnormality of body weight	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0001507	HP:0000002	Abnormality of body height	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0001507	HP:0001510	Growth delay	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional		67
HP:0001507	HP:0004323	Abnormality of body weight	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0001507	HP:0004323	Abnormality of body weight	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001507	HP:0001510	Growth delay	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001507	HP:0004323	Abnormality of body weight	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0001507	HP:0000002	Abnormality of body height	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0001507	HP:0001510	Growth delay	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0001507	HP:0000002	Abnormality of body height	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0001507	HP:0001510	Growth delay	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0001507	HP:0004323	Abnormality of body weight	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0001507	HP:0000002	Abnormality of body height	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001507	HP:0001510	Growth delay	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001507	HP:0004323	Abnormality of body weight	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001507	HP:0000002	Abnormality of body height	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001507	HP:0001510	Growth delay	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001507	HP:0000002	Abnormality of body height	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001507	HP:0001510	Growth delay	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001507	HP:0000002	Abnormality of body height	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001507	HP:0001510	Growth delay	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001507	HP:0004323	Abnormality of body weight	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001507	HP:0004323	Abnormality of body weight	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0001507	HP:0000002	Abnormality of body height	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0001507	HP:0001510	Growth delay	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		29
HP:0001507	HP:0000002	Abnormality of body height	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0001507	HP:0001510	Growth delay	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0001507	HP:0004323	Abnormality of body weight	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0001507	HP:0000002	Abnormality of body height	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001507	HP:0001510	Growth delay	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001507	HP:0004323	Abnormality of body weight	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001507	HP:0001510	Growth delay	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0001507	HP:0004323	Abnormality of body weight	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0001507	HP:0004323	Abnormality of body weight	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0001507	HP:0000002	Abnormality of body height	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0001510	Growth delay	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0001507	HP:0000002	Abnormality of body height	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0001507	HP:0001510	Growth delay	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0001507	HP:0000002	Abnormality of body height	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0001507	HP:0001510	Growth delay	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10			118
HP:0001507	HP:0000002	Abnormality of body height	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0001507	HP:0001510	Growth delay	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12			71
HP:0001507	HP:0000002	Abnormality of body height	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0001507	HP:0001510	Growth delay	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0001507	HP:0000002	Abnormality of body height	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0001507	HP:0001510	Growth delay	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0001507	HP:0000002	Abnormality of body height	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0001507	HP:0001510	Growth delay	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0001507	HP:0000002	Abnormality of body height	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0001507	HP:0001510	Growth delay	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0001507	HP:0000002	Abnormality of body height	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0001507	HP:0001510	Growth delay	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0001507	HP:0004323	Abnormality of body weight	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0001507	HP:0004323	Abnormality of body weight	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0001507	HP:0001510	Growth delay	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001507	HP:0001510	Growth delay	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001507	HP:0004323	Abnormality of body weight	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0001507	HP:0004323	Abnormality of body weight	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0001507	HP:0004323	Abnormality of body weight	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0001507	HP:0000002	Abnormality of body height	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0001507	HP:0000002	Abnormality of body height	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0001507	HP:0001510	Growth delay	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0001507	HP:0001510	Growth delay	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0001507	HP:0000002	Abnormality of body height	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001507	HP:0001510	Growth delay	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001507	HP:0004323	Abnormality of body weight	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001507	HP:0000002	Abnormality of body height	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001507	HP:0001510	Growth delay	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0001510	Growth delay	1	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0001507	HP:0001510	Growth delay	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0001507	HP:0004323	Abnormality of body weight	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001507	HP:0000002	Abnormality of body height	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0001507	HP:0001510	Growth delay	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0001507	HP:0000002	Abnormality of body height	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0001507	HP:0001510	Growth delay	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0001507	HP:0000002	Abnormality of body height	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001507	HP:0001510	Growth delay	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001507	HP:0004323	Abnormality of body weight	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001507	HP:0004323	Abnormality of body weight	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001507	HP:0001510	Growth delay	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001507	HP:0004323	Abnormality of body weight	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0001507	HP:0004323	Abnormality of body weight	1	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11			75
HP:0001507	HP:0001510	Growth delay	1	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0001507	HP:0004323	Abnormality of body weight	1	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0001507	HP:0001510	Growth delay	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent		314
HP:0001507	HP:0001510	Growth delay	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001507	HP:0004323	Abnormality of body weight	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0001507	HP:0004323	Abnormality of body weight	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001507	HP:0004323	Abnormality of body weight	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0001507	HP:0000002	Abnormality of body height	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0001507	HP:0001510	Growth delay	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0001507	HP:0004323	Abnormality of body weight	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0001507	HP:0000002	Abnormality of body height	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0001507	HP:0001510	Growth delay	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0001507	HP:0001510	Growth delay	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2			16
HP:0001507	HP:0000002	Abnormality of body height	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0001507	HP:0001510	Growth delay	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0001507	HP:0000002	Abnormality of body height	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001507	HP:0001510	Growth delay	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001507	HP:0004323	Abnormality of body weight	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0001507	HP:0004323	Abnormality of body weight	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0001507	HP:0000002	Abnormality of body height	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001507	HP:0001510	Growth delay	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001507	HP:0004323	Abnormality of body weight	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0001507	HP:0001510	Growth delay	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional		385
HP:0001507	HP:0000002	Abnormality of body height	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001507	HP:0001510	Growth delay	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001507	HP:0004323	Abnormality of body weight	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001507	HP:0004323	Abnormality of body weight	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0001507	HP:0000002	Abnormality of body height	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0001507	HP:0001510	Growth delay	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0001507	HP:0000002	Abnormality of body height	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0001507	HP:0001510	Growth delay	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0001507	HP:0000002	Abnormality of body height	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1			90
HP:0001507	HP:0001510	Growth delay	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1			90
HP:0001507	HP:0000002	Abnormality of body height	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0001507	HP:0001510	Growth delay	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0001507	HP:0000002	Abnormality of body height	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			90
HP:0001507	HP:0001510	Growth delay	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			90
HP:0001507	HP:0000002	Abnormality of body height	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001510	Growth delay	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001510	Growth delay	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001507	HP:0000002	Abnormality of body height	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0001507	HP:0001510	Growth delay	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0001507	HP:0100555	Asymmetric growth	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0001507	HP:0001510	Growth delay	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0001507	HP:0000002	Abnormality of body height	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001507	HP:0001510	Growth delay	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001507	HP:0004323	Abnormality of body weight	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001507	HP:0000002	Abnormality of body height	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001507	HP:0001510	Growth delay	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001507	HP:0004323	Abnormality of body weight	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001507	HP:0000002	Abnormality of body height	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0001507	HP:0001510	Growth delay	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0001507	HP:0004323	Abnormality of body weight	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0001507	HP:0004323	Abnormality of body weight	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001507	HP:0000002	Abnormality of body height	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001507	HP:0001510	Growth delay	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001507	HP:0000002	Abnormality of body height	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001507	HP:0001510	Growth delay	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001507	HP:0004323	Abnormality of body weight	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001507	HP:0000002	Abnormality of body height	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001507	HP:0001510	Growth delay	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001507	HP:0004323	Abnormality of body weight	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001507	HP:0000002	Abnormality of body height	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001507	HP:0001510	Growth delay	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0001507	HP:0004323	Abnormality of body weight	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0001507	HP:0000002	Abnormality of body height	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001507	HP:0001510	Growth delay	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001507	HP:0004323	Abnormality of body weight	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001507	HP:0000002	Abnormality of body height	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0001507	HP:0001510	Growth delay	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0001507	HP:0004323	Abnormality of body weight	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0001507	HP:0004323	Abnormality of body weight	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0001507	HP:0000002	Abnormality of body height	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001507	HP:0001510	Growth delay	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001507	HP:0004323	Abnormality of body weight	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001507	HP:0000002	Abnormality of body height	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0001507	HP:0001510	Growth delay	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0001507	HP:0004323	Abnormality of body weight	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0001507	HP:0004323	Abnormality of body weight	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0001507	HP:0000002	Abnormality of body height	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0001507	HP:0001510	Growth delay	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0001510	Growth delay	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0001510	Growth delay	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001507	HP:0001510	Growth delay	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001507	HP:0001510	Growth delay	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001507	HP:0004323	Abnormality of body weight	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001507	HP:0001510	Growth delay	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0001507	HP:0000002	Abnormality of body height	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0001507	HP:0001510	Growth delay	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	HP:0040283 - Occasional		10
HP:0001507	HP:0000002	Abnormality of body height	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001507	HP:0004323	Abnormality of body weight	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001507	HP:0000002	Abnormality of body height	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001507	HP:0004323	Abnormality of body weight	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001507	HP:0004323	Abnormality of body weight	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0001507	HP:0000002	Abnormality of body height	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0001507	HP:0001510	Growth delay	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0001507	HP:0000002	Abnormality of body height	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0001507	HP:0001510	Growth delay	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0001507	HP:0004323	Abnormality of body weight	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0001507	HP:0004323	Abnormality of body weight	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0001507	HP:0000002	Abnormality of body height	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001507	HP:0001510	Growth delay	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0000002	Abnormality of body height	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001507	HP:0001510	Growth delay	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0001507	HP:0000002	Abnormality of body height	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001507	HP:0001510	Growth delay	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001507	HP:0004323	Abnormality of body weight	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001507	HP:0000002	Abnormality of body height	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001507	HP:0001510	Growth delay	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001507	HP:0000002	Abnormality of body height	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0001507	HP:0001510	Growth delay	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0001507	HP:0000002	Abnormality of body height	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0001507	HP:0000002	Abnormality of body height	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0001507	HP:0001510	Growth delay	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0001507	HP:0000002	Abnormality of body height	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0001507	HP:0001510	Growth delay	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001507	HP:0001510	Growth delay	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001507	HP:0004323	Abnormality of body weight	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001507	HP:0004323	Abnormality of body weight	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0001507	HP:0000002	Abnormality of body height	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001507	HP:0001510	Growth delay	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001507	HP:0004323	Abnormality of body weight	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001507	HP:0000002	Abnormality of body height	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0001507	HP:0001510	Growth delay	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0001507	HP:0004323	Abnormality of body weight	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0001507	HP:0000002	Abnormality of body height	1	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0001507	HP:0001510	Growth delay	1	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0001507	HP:0000002	Abnormality of body height	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001507	HP:0001510	Growth delay	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001507	HP:0004323	Abnormality of body weight	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001507	HP:0000002	Abnormality of body height	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0001510	Growth delay	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0004323	Abnormality of body weight	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0001510	Growth delay	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0001507	HP:0004323	Abnormality of body weight	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001507	HP:0004323	Abnormality of body weight	1	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1			247
HP:0001507	HP:0000002	Abnormality of body height	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001507	HP:0001510	Growth delay	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001507	HP:0004323	Abnormality of body weight	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001507	HP:0004323	Abnormality of body weight	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0001507	HP:0000002	Abnormality of body height	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001507	HP:0001510	Growth delay	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001507	HP:0000002	Abnormality of body height	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001507	HP:0001510	Growth delay	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001507	HP:0004323	Abnormality of body weight	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001507	HP:0000002	Abnormality of body height	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0001507	HP:0001510	Growth delay	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0001507	HP:0001510	Growth delay	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0001507	HP:0001510	Growth delay	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0001507	HP:0000002	Abnormality of body height	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0001510	Growth delay	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0004323	Abnormality of body weight	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0000002	Abnormality of body height	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001507	HP:0001510	Growth delay	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001507	HP:0000002	Abnormality of body height	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0001507	HP:0001510	Growth delay	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0001507	HP:0000002	Abnormality of body height	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001507	HP:0001510	Growth delay	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001507	HP:0000002	Abnormality of body height	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0001507	HP:0001510	Growth delay	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0001507	HP:0004323	Abnormality of body weight	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0001507	HP:0000002	Abnormality of body height	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001510	Growth delay	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0004323	Abnormality of body weight	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001510	Growth delay	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001507	HP:0004323	Abnormality of body weight	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0001507	HP:0004323	Abnormality of body weight	1	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001507	HP:0000002	Abnormality of body height	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0001507	HP:0001510	Growth delay	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0001507	HP:0004323	Abnormality of body weight	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0001507	HP:0004323	Abnormality of body weight	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0001507	HP:0000002	Abnormality of body height	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0001507	HP:0001510	Growth delay	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0001507	HP:0004323	Abnormality of body weight	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0001507	HP:0004323	Abnormality of body weight	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0001507	HP:0000002	Abnormality of body height	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1			272
HP:0001507	HP:0001510	Growth delay	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1			272
HP:0001507	HP:0000002	Abnormality of body height	1	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0001507	HP:0001510	Growth delay	1	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0001507	HP:0000002	Abnormality of body height	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001507	HP:0001510	Growth delay	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001507	HP:0100555	Asymmetric growth	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001507	HP:0004323	Abnormality of body weight	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001507	HP:0000002	Abnormality of body height	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0001507	HP:0001510	Growth delay	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0001507	HP:0004323	Abnormality of body weight	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0001507	HP:0000002	Abnormality of body height	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001507	HP:0004323	Abnormality of body weight	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001507	HP:0033794	Acral overgrowth	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0001507	HP:0004323	Abnormality of body weight	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0001507	HP:0004323	Abnormality of body weight	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0001507	HP:0000002	Abnormality of body height	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001507	HP:0001510	Growth delay	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001507	HP:0000002	Abnormality of body height	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001507	HP:0001510	Growth delay	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001507	HP:0000002	Abnormality of body height	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0001507	HP:0000002	Abnormality of body height	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001507	HP:0004323	Abnormality of body weight	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001507	HP:0001510	Growth delay	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001507	HP:0001510	Growth delay	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001507	HP:0000002	Abnormality of body height	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001507	HP:0001510	Growth delay	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001507	HP:0001510	Growth delay	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001507	HP:0001510	Growth delay	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001507	HP:0001510	Growth delay	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0001507	HP:0004323	Abnormality of body weight	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001507	HP:0030853	Heterotaxy	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001507	HP:0030853	Heterotaxy	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001507	HP:0004323	Abnormality of body weight	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0001507	HP:0001510	Growth delay	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0001507	HP:0001510	Growth delay	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0001507	HP:0004323	Abnormality of body weight	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0001507	HP:0000002	Abnormality of body height	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0001507	HP:0001510	Growth delay	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0001507	HP:0004323	Abnormality of body weight	1	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0001507	HP:0000002	Abnormality of body height	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0001507	HP:0000002	Abnormality of body height	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001507	HP:0001510	Growth delay	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001507	HP:0001510	Growth delay	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001507	HP:0004323	Abnormality of body weight	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001507	HP:0004323	Abnormality of body weight	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001507	HP:0004323	Abnormality of body weight	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0001507	HP:0004323	Abnormality of body weight	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0001510	Growth delay	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0004323	Abnormality of body weight	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0001510	Growth delay	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0004323	Abnormality of body weight	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0004323	Abnormality of body weight	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0001507	HP:0004323	Abnormality of body weight	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19			18
HP:0001507	HP:0004323	Abnormality of body weight	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0001507	HP:0004323	Abnormality of body weight	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0001507	HP:0004323	Abnormality of body weight	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0001507	HP:0004323	Abnormality of body weight	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0001507	HP:0004323	Abnormality of body weight	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001507	HP:0001510	Growth delay	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0001507	HP:0004323	Abnormality of body weight	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive			9
HP:0001507	HP:0004323	Abnormality of body weight	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0001507	HP:0004323	Abnormality of body weight	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0001507	HP:0004323	Abnormality of body weight	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0000002	Abnormality of body height	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001507	HP:0000002	Abnormality of body height	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001507	HP:0001510	Growth delay	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001507	HP:0001510	Growth delay	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001507	HP:0004323	Abnormality of body weight	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001507	HP:0004323	Abnormality of body weight	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001507	HP:0001510	Growth delay	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001507	HP:0004323	Abnormality of body weight	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001507	HP:0001510	Growth delay	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001507	HP:0001510	Growth delay	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001507	HP:0000002	Abnormality of body height	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0001507	HP:0001510	Growth delay	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0004323	Abnormality of body weight	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001507	HP:0001510	Growth delay	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0001507	HP:0004323	Abnormality of body weight	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001507	HP:0000002	Abnormality of body height	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0001507	HP:0001510	Growth delay	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0001507	HP:0004323	Abnormality of body weight	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0001507	HP:0000002	Abnormality of body height	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0001507	HP:0001510	Growth delay	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0001507	HP:0004323	Abnormality of body weight	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0001507	HP:0004323	Abnormality of body weight	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0001507	HP:0000002	Abnormality of body height	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0001507	HP:0001510	Growth delay	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0001507	HP:0001510	Growth delay	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0001507	HP:0004323	Abnormality of body weight	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001507	HP:0001510	Growth delay	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0001507	HP:0001510	Growth delay	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0001507	HP:0004323	Abnormality of body weight	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0001507	HP:0000002	Abnormality of body height	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0001507	HP:0001510	Growth delay	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0001507	HP:0004323	Abnormality of body weight	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0001507	HP:0000002	Abnormality of body height	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0001507	HP:0001510	Growth delay	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001507	HP:0000002	Abnormality of body height	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001507	HP:0001510	Growth delay	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001507	HP:0001510	Growth delay	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001507	HP:0000002	Abnormality of body height	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0000002	Abnormality of body height	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0001507	HP:0001510	Growth delay	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		181
HP:0001507	HP:0000002	Abnormality of body height	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0001507	HP:0001510	Growth delay	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0001507	HP:0000002	Abnormality of body height	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0001507	HP:0001510	Growth delay	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		6
HP:0001507	HP:0001510	Growth delay	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0001507	HP:0001510	Growth delay	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent		405
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001507	HP:0000002	Abnormality of body height	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0001507	HP:0000002	Abnormality of body height	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0001507	HP:0000002	Abnormality of body height	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001507	HP:0100555	Asymmetric growth	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001507	HP:0001510	Growth delay	1	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome			114
HP:0001507	HP:0000002	Abnormality of body height	1	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome			114
HP:0001507	HP:0001510	Growth delay	1	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome			114
HP:0001507	HP:0001510	Growth delay	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0001507	HP:0001510	Growth delay	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001507	HP:0100555	Asymmetric growth	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0001507	HP:0000002	Abnormality of body height	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0001507	HP:0000002	Abnormality of body height	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0001507	HP:0004323	Abnormality of body weight	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0001507	HP:0000002	Abnormality of body height	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0001507	HP:0001510	Growth delay	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0004323	Abnormality of body weight	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0001507	HP:0000002	Abnormality of body height	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0001507	HP:0001510	Growth delay	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0001507	HP:0004323	Abnormality of body weight	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0001507	HP:0000002	Abnormality of body height	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001507	HP:0001510	Growth delay	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001507	HP:0000002	Abnormality of body height	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0001507	HP:0001510	Growth delay	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0004323	Abnormality of body weight	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0001507	HP:0000002	Abnormality of body height	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0001507	HP:0001510	Growth delay	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0001507	HP:0004323	Abnormality of body weight	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0001507	HP:0000002	Abnormality of body height	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0001507	HP:0001510	Growth delay	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0004323	Abnormality of body weight	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0001507	HP:0000002	Abnormality of body height	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0001507	HP:0001510	Growth delay	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0001507	HP:0004323	Abnormality of body weight	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0001507	HP:0000002	Abnormality of body height	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0001507	HP:0001510	Growth delay	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0001507	HP:0004323	Abnormality of body weight	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0001507	HP:0004323	Abnormality of body weight	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0004323	Abnormality of body weight	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001510	Growth delay	1	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0001507	HP:0004323	Abnormality of body weight	1	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0001507	HP:0004323	Abnormality of body weight	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001507	HP:0000002	Abnormality of body height	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0000002	Abnormality of body height	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001507	HP:0001510	Growth delay	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001507	HP:0004323	Abnormality of body weight	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001507	HP:0000002	Abnormality of body height	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0001507	HP:0001510	Growth delay	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0001507	HP:0004323	Abnormality of body weight	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0001507	HP:0000002	Abnormality of body height	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0001507	HP:0001510	Growth delay	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		161
HP:0001507	HP:0000002	Abnormality of body height	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0001507	HP:0001510	Growth delay	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0001507	HP:0004323	Abnormality of body weight	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0001507	HP:0000002	Abnormality of body height	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0001507	HP:0001510	Growth delay	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0001507	HP:0004323	Abnormality of body weight	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0001507	HP:0000002	Abnormality of body height	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0001510	Growth delay	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0004323	Abnormality of body weight	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0000002	Abnormality of body height	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome			7
HP:0001507	HP:0001510	Growth delay	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0001507	HP:0001510	Growth delay	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0001507	HP:0000002	Abnormality of body height	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0001507	HP:0001510	Growth delay	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		38
HP:0001507	HP:0000002	Abnormality of body height	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0001507	HP:0001510	Growth delay	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		146
HP:0001507	HP:0000002	Abnormality of body height	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0001507	HP:0001510	Growth delay	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0001507	HP:0004323	Abnormality of body weight	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0001507	HP:0000002	Abnormality of body height	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0001507	HP:0001510	Growth delay	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0001507	HP:0004323	Abnormality of body weight	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0001507	HP:0000002	Abnormality of body height	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0001507	HP:0001510	Growth delay	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0001510	Growth delay	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0001507	HP:0000002	Abnormality of body height	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0001507	HP:0001510	Growth delay	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0001507	HP:0004323	Abnormality of body weight	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0001507	HP:0004323	Abnormality of body weight	1	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0001507	HP:0001510	Growth delay	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001507	HP:0000002	Abnormality of body height	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0001507	HP:0001510	Growth delay	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0001507	HP:0000002	Abnormality of body height	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001507	HP:0001510	Growth delay	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0001507	HP:0000002	Abnormality of body height	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0001510	Growth delay	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0004323	Abnormality of body weight	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0000002	Abnormality of body height	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0001507	HP:0001510	Growth delay	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		31
HP:0001507	HP:0000002	Abnormality of body height	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0001507	HP:0001510	Growth delay	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0001507	HP:0004323	Abnormality of body weight	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0001507	HP:0000002	Abnormality of body height	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0001507	HP:0001510	Growth delay	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0001507	HP:0004323	Abnormality of body weight	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0001507	HP:0000002	Abnormality of body height	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0001507	HP:0001510	Growth delay	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0001507	HP:0000002	Abnormality of body height	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0001510	Growth delay	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0001507	HP:0004323	Abnormality of body weight	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0030853	Heterotaxy	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001507	HP:0030853	Heterotaxy	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001507	HP:0030853	Heterotaxy	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001507	HP:0004323	Abnormality of body weight	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001507	HP:0004323	Abnormality of body weight	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001507	HP:0004323	Abnormality of body weight	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001507	HP:0004323	Abnormality of body weight	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0001507	HP:0004323	Abnormality of body weight	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0001507	HP:0000002	Abnormality of body height	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001507	HP:0001510	Growth delay	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001507	HP:0000002	Abnormality of body height	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0001507	HP:0001510	Growth delay	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0001507	HP:0001510	Growth delay	1	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001507	HP:0001510	Growth delay	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001507	HP:0000002	Abnormality of body height	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001507	HP:0001510	Growth delay	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001507	HP:0001510	Growth delay	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001507	HP:0001510	Growth delay	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0001507	HP:0004323	Abnormality of body weight	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0001507	HP:0000002	Abnormality of body height	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		515
HP:0001507	HP:0001510	Growth delay	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0001507	HP:0004323	Abnormality of body weight	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0001507	HP:0004323	Abnormality of body weight	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001507	HP:0000002	Abnormality of body height	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0001507	HP:0004323	Abnormality of body weight	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0001507	HP:0004323	Abnormality of body weight	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0001507	HP:0000002	Abnormality of body height	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001507	HP:0001510	Growth delay	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001507	HP:0001510	Growth delay	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0001507	HP:0004323	Abnormality of body weight	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001507	HP:0001510	Growth delay	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001507	HP:0004323	Abnormality of body weight	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0001507	HP:0000002	Abnormality of body height	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0001507	HP:0001510	Growth delay	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0001507	HP:0001510	Growth delay	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001507	HP:0000002	Abnormality of body height	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0001507	HP:0001510	Growth delay	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0001507	HP:0004323	Abnormality of body weight	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0001507	HP:0000002	Abnormality of body height	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0001507	HP:0001510	Growth delay	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0001507	HP:0001510	Growth delay	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001507	HP:0000002	Abnormality of body height	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits			1
HP:0001507	HP:0001510	Growth delay	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits			1
HP:0001507	HP:0000002	Abnormality of body height	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0001507	HP:0000002	Abnormality of body height	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0001507	HP:0001510	Growth delay	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0001507	HP:0000002	Abnormality of body height	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001507	HP:0001510	Growth delay	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001507	HP:0000002	Abnormality of body height	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001507	HP:0001510	Growth delay	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001507	HP:0000002	Abnormality of body height	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0001507	HP:0001510	Growth delay	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0000002	Abnormality of body height	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0001507	HP:0004323	Abnormality of body weight	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0001507	HP:0004323	Abnormality of body weight	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0001507	HP:0004323	Abnormality of body weight	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0001507	HP:0004323	Abnormality of body weight	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0001507	HP:0030853	Heterotaxy	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001507	HP:0001510	Growth delay	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0001507	HP:0001510	Growth delay	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		15
HP:0001507	HP:0000002	Abnormality of body height	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0001507	HP:0001510	Growth delay	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0001507	HP:0004323	Abnormality of body weight	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0001507	HP:0001510	Growth delay	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0001507	HP:0000002	Abnormality of body height	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001507	HP:0001510	Growth delay	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0001507	HP:0001510	Growth delay	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0004323	Abnormality of body weight	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0004323	Abnormality of body weight	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001507	HP:0000002	Abnormality of body height	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0001507	HP:0001510	Growth delay	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0001507	HP:0000002	Abnormality of body height	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0001507	HP:0001510	Growth delay	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0001507	HP:0000002	Abnormality of body height	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis			112
HP:0001507	HP:0001510	Growth delay	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis			112
HP:0001507	HP:0000002	Abnormality of body height	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0001507	HP:0001510	Growth delay	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0001507	HP:0001510	Growth delay	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0001507	HP:0000002	Abnormality of body height	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0001507	HP:0001510	Growth delay	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0001507	HP:0001510	Growth delay	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0001507	HP:0004323	Abnormality of body weight	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0001507	HP:0004323	Abnormality of body weight	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0001507	HP:0004323	Abnormality of body weight	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0001507	HP:0001510	Growth delay	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001507	HP:0004323	Abnormality of body weight	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001507	HP:0004323	Abnormality of body weight	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0001507	HP:0004323	Abnormality of body weight	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0001507	HP:0000002	Abnormality of body height	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0001507	HP:0001510	Growth delay	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0001507	HP:0001510	Growth delay	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0001507	HP:0001510	Growth delay	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0001507	HP:0001510	Growth delay	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0001507	HP:0000002	Abnormality of body height	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001507	HP:0001510	Growth delay	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.		38
HP:0001507	HP:0000002	Abnormality of body height	1	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0001507	HP:0001510	Growth delay	1	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3			13
HP:0001507	HP:0004323	Abnormality of body weight	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0001507	HP:0000002	Abnormality of body height	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0001507	HP:0000002	Abnormality of body height	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0001507	HP:0001510	Growth delay	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0001507	HP:0004323	Abnormality of body weight	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0001507	HP:0004323	Abnormality of body weight	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0001507	HP:0000002	Abnormality of body height	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001507	HP:0001510	Growth delay	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001507	HP:0004323	Abnormality of body weight	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001507	HP:0001510	Growth delay	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0001507	HP:0001510	Growth delay	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0001510	Growth delay	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001507	HP:0004323	Abnormality of body weight	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001507	HP:0004323	Abnormality of body weight	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001507	HP:0000002	Abnormality of body height	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001507	HP:0001510	Growth delay	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001507	HP:0004323	Abnormality of body weight	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001507	HP:0004323	Abnormality of body weight	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001507	HP:0000002	Abnormality of body height	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0001510	Growth delay	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0004323	Abnormality of body weight	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0000002	Abnormality of body height	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0001510	Growth delay	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0004323	Abnormality of body weight	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0001510	Growth delay	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0001507	HP:0004323	Abnormality of body weight	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0001507	HP:0004323	Abnormality of body weight	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0001507	HP:0000002	Abnormality of body height	1	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type			67
HP:0001507	HP:0001510	Growth delay	1	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type			67
HP:0001507	HP:0000002	Abnormality of body height	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0001507	HP:0001510	Growth delay	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0001507	HP:0000002	Abnormality of body height	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0001507	HP:0001510	Growth delay	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0001507	HP:0000002	Abnormality of body height	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0001507	HP:0001510	Growth delay	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0001507	HP:0001510	Growth delay	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001507	HP:0004323	Abnormality of body weight	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001507	HP:0001510	Growth delay	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001507	HP:0004323	Abnormality of body weight	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001507	HP:0000002	Abnormality of body height	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0001507	HP:0001510	Growth delay	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0001507	HP:0004323	Abnormality of body weight	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0001507	HP:0004323	Abnormality of body weight	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0001507	HP:0004323	Abnormality of body weight	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0001507	HP:0000002	Abnormality of body height	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0000002	Abnormality of body height	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0001510	Growth delay	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0001510	Growth delay	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0004323	Abnormality of body weight	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0001507	HP:0001510	Growth delay	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0001507	HP:0001510	Growth delay	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0001507	HP:0001510	Growth delay	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis			215
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001507	HP:0001510	Growth delay	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0001507	HP:0001510	Growth delay	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001507	HP:0001510	Growth delay	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0001507	HP:0001510	Growth delay	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis			222
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0001507	HP:0000002	Abnormality of body height	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0001507	HP:0001510	Growth delay	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0001507	HP:0001510	Growth delay	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia			222
HP:0001507	HP:0004323	Abnormality of body weight	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0001507	HP:0001510	Growth delay	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0001507	HP:0001510	Growth delay	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001507	HP:0001510	Growth delay	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0001507	HP:0001510	Growth delay	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001507	HP:0001510	Growth delay	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001507	HP:0004323	Abnormality of body weight	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0001507	HP:0001510	Growth delay	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0001507	HP:0001510	Growth delay	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0001507	HP:0001510	Growth delay	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001507	HP:0001510	Growth delay	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2			243
HP:0001507	HP:0001510	Growth delay	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2			243
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001507	HP:0001510	Growth delay	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001507	HP:0004323	Abnormality of body weight	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0001507	HP:0001510	Growth delay	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0001507	HP:0000002	Abnormality of body height	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0001507	HP:0001510	Growth delay	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0001507	HP:0000002	Abnormality of body height	1	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0001507	HP:0001510	Growth delay	1	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0001507	HP:0100555	Asymmetric growth	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0001507	HP:0100555	Asymmetric growth	1	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional		284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040281 - Very frequent		284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001507	HP:0100555	Asymmetric growth	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0001507	HP:0001510	Growth delay	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0001507	HP:0000002	Abnormality of body height	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0001507	HP:0001510	Growth delay	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0001507	HP:0000002	Abnormality of body height	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001507	HP:0001510	Growth delay	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001507	HP:0000002	Abnormality of body height	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0001507	HP:0001510	Growth delay	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0001507	HP:0001510	Growth delay	1	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0001507	HP:0004323	Abnormality of body weight	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0001507	HP:0004323	Abnormality of body weight	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0001507	HP:0000002	Abnormality of body height	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001507	HP:0001510	Growth delay	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001507	HP:0000002	Abnormality of body height	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0001507	HP:0004323	Abnormality of body weight	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0001507	HP:0000002	Abnormality of body height	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0001507	HP:0001510	Growth delay	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0001507	HP:0000002	Abnormality of body height	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0001507	HP:0004323	Abnormality of body weight	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0001507	HP:0000002	Abnormality of body height	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0001507	HP:0004323	Abnormality of body weight	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0001507	HP:0001510	Growth delay	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent		263
HP:0001507	HP:0004323	Abnormality of body weight	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0001507	HP:0001510	Growth delay	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0001507	HP:0001510	Growth delay	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0001507	HP:0001510	Growth delay	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional		263
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0001507	HP:0001510	Growth delay	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0001507	HP:0001510	Growth delay	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0001507	HP:0001510	Growth delay	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0001507	HP:0001510	Growth delay	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0001507	HP:0001510	Growth delay	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0001507	HP:0001510	Growth delay	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			110
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0001507	HP:0001510	Growth delay	1	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0001507	HP:0001510	Growth delay	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0001507	HP:0001510	Growth delay	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0001507	HP:0000002	Abnormality of body height	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0001507	HP:0001510	Growth delay	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly			137
HP:0001507	HP:0001510	Growth delay	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0001507	HP:0001510	Growth delay	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.		3
HP:0001507	HP:0001510	Growth delay	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0001507	HP:0001510	Growth delay	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0001507	HP:0000002	Abnormality of body height	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0001507	HP:0001510	Growth delay	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0001507	HP:0000002	Abnormality of body height	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0001507	HP:0001510	Growth delay	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0001507	HP:0000002	Abnormality of body height	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0001507	HP:0000002	Abnormality of body height	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0001507	HP:0001510	Growth delay	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0001507	HP:0001510	Growth delay	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0001507	HP:0000002	Abnormality of body height	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001507	HP:0001510	Growth delay	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001507	HP:0000002	Abnormality of body height	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001510	Growth delay	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0001507	HP:0001510	Growth delay	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001507	HP:0001510	Growth delay	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001507	HP:0001510	Growth delay	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001507	HP:0004323	Abnormality of body weight	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001507	HP:0001510	Growth delay	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0001507	HP:0001510	Growth delay	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0001507	HP:0004323	Abnormality of body weight	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0001507	HP:0000002	Abnormality of body height	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001507	HP:0004323	Abnormality of body weight	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001507	HP:0001510	Growth delay	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001507	HP:0000002	Abnormality of body height	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0001507	HP:0000002	Abnormality of body height	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001507	HP:0001510	Growth delay	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001507	HP:0004323	Abnormality of body weight	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001507	HP:0004323	Abnormality of body weight	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0001507	HP:0004323	Abnormality of body weight	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001507	HP:0001510	Growth delay	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001507	HP:0000002	Abnormality of body height	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001507	HP:0001510	Growth delay	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001507	HP:0000002	Abnormality of body height	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001507	HP:0001510	Growth delay	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0001507	HP:0004323	Abnormality of body weight	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001507	HP:0001510	Growth delay	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001507	HP:0000002	Abnormality of body height	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0001507	HP:0001510	Growth delay	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0001507	HP:0001510	Growth delay	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001507	HP:0004323	Abnormality of body weight	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001507	HP:0000002	Abnormality of body height	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0001510	Growth delay	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0000002	Abnormality of body height	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001507	HP:0001510	Growth delay	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001507	HP:0004323	Abnormality of body weight	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001507	HP:0000002	Abnormality of body height	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001510	Growth delay	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001510	Growth delay	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0030853	Heterotaxy	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0001507	HP:0004323	Abnormality of body weight	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001507	HP:0004323	Abnormality of body weight	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0004323	Abnormality of body weight	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0001507	HP:0000002	Abnormality of body height	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0001510	Growth delay	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0004323	Abnormality of body weight	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0000002	Abnormality of body height	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0001510	Growth delay	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0004323	Abnormality of body weight	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0000002	Abnormality of body height	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001507	HP:0001510	Growth delay	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0001507	HP:0004323	Abnormality of body weight	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001507	HP:0000002	Abnormality of body height	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001507	HP:0001510	Growth delay	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001507	HP:0004323	Abnormality of body weight	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001507	HP:0000002	Abnormality of body height	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0001510	Growth delay	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0004323	Abnormality of body weight	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0000002	Abnormality of body height	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001507	HP:0001510	Growth delay	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004323	Abnormality of body weight	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0001507	HP:0000002	Abnormality of body height	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0001507	HP:0001510	Growth delay	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0001507	HP:0004323	Abnormality of body weight	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0001507	HP:0004323	Abnormality of body weight	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0001507	HP:0004323	Abnormality of body weight	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0001507	HP:0004323	Abnormality of body weight	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0001507	HP:0000002	Abnormality of body height	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001507	HP:0001510	Growth delay	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001507	HP:0001510	Growth delay	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001507	HP:0004323	Abnormality of body weight	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0001507	HP:0000002	Abnormality of body height	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0001510	Growth delay	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0004323	Abnormality of body weight	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0000002	Abnormality of body height	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001510	Growth delay	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001510	Growth delay	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0030853	Heterotaxy	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0001507	HP:0001510	Growth delay	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0001507	HP:0000002	Abnormality of body height	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0001507	HP:0001510	Growth delay	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0001507	HP:0004323	Abnormality of body weight	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001507	HP:0000002	Abnormality of body height	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001507	HP:0001510	Growth delay	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001507	HP:0000002	Abnormality of body height	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0001507	HP:0001510	Growth delay	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0001507	HP:0000002	Abnormality of body height	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0001507	HP:0001510	Growth delay	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0001507	HP:0004323	Abnormality of body weight	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0001507	HP:0004323	Abnormality of body weight	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0001507	HP:0000002	Abnormality of body height	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0001507	HP:0001510	Growth delay	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0001507	HP:0004323	Abnormality of body weight	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0001507	HP:0001510	Growth delay	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0001507	HP:0004323	Abnormality of body weight	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0001507	HP:0001510	Growth delay	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001507	HP:0000002	Abnormality of body height	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0001507	HP:0001510	Growth delay	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0001507	HP:0000002	Abnormality of body height	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0001510	Growth delay	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0004323	Abnormality of body weight	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0001510	Growth delay	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0001507	HP:0004323	Abnormality of body weight	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0001507	HP:0001510	Growth delay	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional		178
HP:0001507	HP:0004323	Abnormality of body weight	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0001507	HP:0004323	Abnormality of body weight	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0001507	HP:0000002	Abnormality of body height	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001507	HP:0001510	Growth delay	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001507	HP:0004323	Abnormality of body weight	1	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0000002	Abnormality of body height	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0000002	Abnormality of body height	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0001507	HP:0001510	Growth delay	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0001507	HP:0001510	Growth delay	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0100555	Asymmetric growth	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0004323	Abnormality of body weight	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0001510	Growth delay	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001507	HP:0004323	Abnormality of body weight	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001507	HP:0000002	Abnormality of body height	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001507	HP:0001510	Growth delay	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001507	HP:0004323	Abnormality of body weight	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001507	HP:0000002	Abnormality of body height	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0001507	HP:0001510	Growth delay	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0001507	HP:0004323	Abnormality of body weight	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0001507	HP:0000002	Abnormality of body height	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0001507	HP:0001510	Growth delay	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0001507	HP:0004323	Abnormality of body weight	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0001507	HP:0000002	Abnormality of body height	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0001507	HP:0001510	Growth delay	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0001507	HP:0000002	Abnormality of body height	1	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development			1
HP:0001507	HP:0001510	Growth delay	1	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development			1
HP:0001507	HP:0000002	Abnormality of body height	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0001507	HP:0001510	Growth delay	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001507	HP:0001510	Growth delay	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001507	HP:0000002	Abnormality of body height	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0001507	HP:0001510	Growth delay	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0001507	HP:0004323	Abnormality of body weight	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0001507	HP:0001510	Growth delay	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0001507	HP:0000002	Abnormality of body height	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001507	HP:0001510	Growth delay	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001507	HP:0001510	Growth delay	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0001507	HP:0004323	Abnormality of body weight	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0001507	HP:0000002	Abnormality of body height	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0001507	HP:0001510	Growth delay	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0001507	HP:0000002	Abnormality of body height	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency			112
HP:0001507	HP:0001510	Growth delay	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency			112
HP:0001507	HP:0000002	Abnormality of body height	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency			112
HP:0001507	HP:0001510	Growth delay	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency			112
HP:0001507	HP:0001510	Growth delay	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.		73
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0001507	HP:0001510	Growth delay	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism			73
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism			73
HP:0001507	HP:0001510	Growth delay	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency			73
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency			73
HP:0001507	HP:0000002	Abnormality of body height	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0001507	HP:0001510	Growth delay	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0001507	HP:0001510	Growth delay	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0001507	HP:0000002	Abnormality of body height	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0001507	HP:0001510	Growth delay	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0001507	HP:0000002	Abnormality of body height	1	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome			60
HP:0001507	HP:0001510	Growth delay	1	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome			60
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0001507	HP:0000002	Abnormality of body height	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0001507	HP:0001510	Growth delay	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0001507	HP:0001510	Growth delay	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0001507	HP:0000002	Abnormality of body height	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0001507	HP:0001510	Growth delay	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0001507	HP:0001510	Growth delay	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0001507	HP:0001510	Growth delay	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0001507	HP:0000002	Abnormality of body height	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0001507	HP:0001510	Growth delay	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0001507	HP:0004323	Abnormality of body weight	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0001507	HP:0004323	Abnormality of body weight	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001507	HP:0000002	Abnormality of body height	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001507	HP:0001510	Growth delay	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001507	HP:0100555	Asymmetric growth	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001507	HP:0000002	Abnormality of body height	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001507	HP:0001510	Growth delay	1	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001507	HP:0001510	Growth delay	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0001507	HP:0001510	Growth delay	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0001507	HP:0004323	Abnormality of body weight	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0001507	HP:0000002	Abnormality of body height	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0001507	HP:0001510	Growth delay	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0001507	HP:0001510	Growth delay	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0001507	HP:0004323	Abnormality of body weight	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001507	HP:0004323	Abnormality of body weight	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0001507	HP:0004323	Abnormality of body weight	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency			94
HP:0001507	HP:0004323	Abnormality of body weight	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0001507	HP:0004323	Abnormality of body weight	1	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0001507	HP:0004323	Abnormality of body weight	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0001507	HP:0004323	Abnormality of body weight	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001510	Growth delay	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0001507	HP:0004323	Abnormality of body weight	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001507	HP:0000002	Abnormality of body height	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0001507	HP:0001510	Growth delay	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0001507	HP:0004323	Abnormality of body weight	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0001507	HP:0000002	Abnormality of body height	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0001507	HP:0001510	Growth delay	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0001507	HP:0000002	Abnormality of body height	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001507	HP:0001510	Growth delay	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001507	HP:0004323	Abnormality of body weight	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0001507	HP:0000002	Abnormality of body height	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0001507	HP:0001510	Growth delay	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0001507	HP:0004323	Abnormality of body weight	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0001507	HP:0000002	Abnormality of body height	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0001507	HP:0001510	Growth delay	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0001507	HP:0000002	Abnormality of body height	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0000002	Abnormality of body height	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001510	Growth delay	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001510	Growth delay	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001510	Growth delay	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001507	HP:0004323	Abnormality of body weight	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001507	HP:0004323	Abnormality of body weight	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001507	HP:0000002	Abnormality of body height	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001507	HP:0001510	Growth delay	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001507	HP:0004323	Abnormality of body weight	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001507	HP:0001510	Growth delay	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001507	HP:0004323	Abnormality of body weight	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001507	HP:0004323	Abnormality of body weight	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0001507	HP:0004323	Abnormality of body weight	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0001507	HP:0000002	Abnormality of body height	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001510	Growth delay	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001510	Growth delay	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001510	Growth delay	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001510	Growth delay	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0001507	HP:0004323	Abnormality of body weight	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0001507	HP:0000002	Abnormality of body height	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0000002	Abnormality of body height	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0001507	HP:0001510	Growth delay	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0001507	HP:0001510	Growth delay	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0004323	Abnormality of body weight	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0004323	Abnormality of body weight	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0001507	HP:0000002	Abnormality of body height	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0000002	Abnormality of body height	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0001510	Growth delay	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0001510	Growth delay	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0001507	HP:0004323	Abnormality of body weight	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0000002	Abnormality of body height	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0001507	HP:0001510	Growth delay	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0001507	HP:0000002	Abnormality of body height	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001507	HP:0001510	Growth delay	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001507	HP:0004323	Abnormality of body weight	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001507	HP:0004323	Abnormality of body weight	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0001507	HP:0001510	Growth delay	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0001507	HP:0004323	Abnormality of body weight	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0001507	HP:0001510	Growth delay	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0001507	HP:0000002	Abnormality of body height	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001507	HP:0001510	Growth delay	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001507	HP:0001510	Growth delay	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0000002	Abnormality of body height	1	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome			118
HP:0001507	HP:0001510	Growth delay	1	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.		118
HP:0001507	HP:0000002	Abnormality of body height	1	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0001507	HP:0004323	Abnormality of body weight	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0001507	HP:0000002	Abnormality of body height	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0001507	HP:0004323	Abnormality of body weight	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0001507	HP:0000002	Abnormality of body height	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0001507	HP:0001510	Growth delay	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0001507	HP:0000002	Abnormality of body height	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0001507	HP:0001510	Growth delay	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0001507	HP:0000002	Abnormality of body height	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001507	HP:0001510	Growth delay	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001507	HP:0000002	Abnormality of body height	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0001507	HP:0001510	Growth delay	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0001507	HP:0000002	Abnormality of body height	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0001507	HP:0001510	Growth delay	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0001507	HP:0000002	Abnormality of body height	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0001507	HP:0001510	Growth delay	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0001507	HP:0000002	Abnormality of body height	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0001507	HP:0001510	Growth delay	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0001507	HP:0000002	Abnormality of body height	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0001507	HP:0001510	Growth delay	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0001507	HP:0004323	Abnormality of body weight	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0001507	HP:0004323	Abnormality of body weight	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0001507	HP:0000002	Abnormality of body height	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0001507	HP:0000002	Abnormality of body height	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0001510	Growth delay	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0004323	Abnormality of body weight	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0001510	Growth delay	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001507	HP:0000002	Abnormality of body height	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001510	Growth delay	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0000002	Abnormality of body height	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001510	Growth delay	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0004323	Abnormality of body weight	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001510	Growth delay	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0004323	Abnormality of body weight	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0001510	Growth delay	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0004323	Abnormality of body weight	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0000002	Abnormality of body height	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0001507	HP:0001510	Growth delay	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0001507	HP:0000002	Abnormality of body height	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0001507	HP:0001510	Growth delay	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0001507	HP:0000002	Abnormality of body height	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001507	HP:0001510	Growth delay	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001507	HP:0000002	Abnormality of body height	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0001507	HP:0001510	Growth delay	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0001507	HP:0000002	Abnormality of body height	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0001507	HP:0001510	Growth delay	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0001507	HP:0000002	Abnormality of body height	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0001507	HP:0001510	Growth delay	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0001507	HP:0000002	Abnormality of body height	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0001510	Growth delay	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0004323	Abnormality of body weight	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001507	HP:0000002	Abnormality of body height	1	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0001507	HP:0001510	Growth delay	1	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0001507	HP:0000002	Abnormality of body height	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0001507	HP:0001510	Growth delay	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0001507	HP:0100555	Asymmetric growth	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0001507	HP:0004323	Abnormality of body weight	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001507	HP:0001510	Growth delay	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0001507	HP:0004323	Abnormality of body weight	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001507	HP:0000002	Abnormality of body height	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0001507	HP:0001510	Growth delay	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0001507	HP:0001510	Growth delay	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001507	HP:0004323	Abnormality of body weight	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001507	HP:0000002	Abnormality of body height	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0001507	HP:0004323	Abnormality of body weight	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0001507	HP:0000002	Abnormality of body height	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0001507	HP:0001510	Growth delay	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0001507	HP:0030853	Heterotaxy	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001507	HP:0004323	Abnormality of body weight	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001507	HP:0001510	Growth delay	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001507	HP:0001510	Growth delay	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent		25
HP:0001507	HP:0000002	Abnormality of body height	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0001507	HP:0001510	Growth delay	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0001507	HP:0004323	Abnormality of body weight	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0001507	HP:0000002	Abnormality of body height	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0001507	HP:0001510	Growth delay	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004323	Abnormality of body weight	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001507	HP:0001510	Growth delay	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001507	HP:0004323	Abnormality of body weight	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001507	HP:0000002	Abnormality of body height	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0001507	HP:0001510	Growth delay	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0001507	HP:0000002	Abnormality of body height	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0001507	HP:0001510	Growth delay	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001507	HP:0004323	Abnormality of body weight	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001507	HP:0000002	Abnormality of body height	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001507	HP:0001510	Growth delay	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001507	HP:0004323	Abnormality of body weight	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001507	HP:0001510	Growth delay	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0001507	HP:0004323	Abnormality of body weight	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0001507	HP:0004323	Abnormality of body weight	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001507	HP:0004323	Abnormality of body weight	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001507	HP:0000002	Abnormality of body height	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0001510	Growth delay	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0004323	Abnormality of body weight	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0004323	Abnormality of body weight	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0001507	HP:0000002	Abnormality of body height	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0000002	Abnormality of body height	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0001510	Growth delay	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0100555	Asymmetric growth	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0004323	Abnormality of body weight	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0000002	Abnormality of body height	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0001507	HP:0001510	Growth delay	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0001507	HP:0000002	Abnormality of body height	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0001507	HP:0001510	Growth delay	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0001507	HP:0004323	Abnormality of body weight	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0001507	HP:0001510	Growth delay	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0001507	HP:0000002	Abnormality of body height	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0001507	HP:0001510	Growth delay	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0001507	HP:0004323	Abnormality of body weight	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001507	HP:0001510	Growth delay	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive			217
HP:0001507	HP:0001510	Growth delay	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001507	HP:0004323	Abnormality of body weight	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0001507	HP:0000002	Abnormality of body height	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001507	HP:0001510	Growth delay	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001507	HP:0004323	Abnormality of body weight	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001507	HP:0000002	Abnormality of body height	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0001507	HP:0001510	Growth delay	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0001507	HP:0001510	Growth delay	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001507	HP:0001510	Growth delay	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001507	HP:0000002	Abnormality of body height	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001507	HP:0001510	Growth delay	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001507	HP:0000002	Abnormality of body height	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0001507	HP:0001510	Growth delay	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0001507	HP:0001510	Growth delay	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0001507	HP:0000002	Abnormality of body height	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001507	HP:0001510	Growth delay	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001507	HP:0000002	Abnormality of body height	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001507	HP:0001510	Growth delay	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001507	HP:0004323	Abnormality of body weight	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0001507	HP:0004323	Abnormality of body weight	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0001507	HP:0004323	Abnormality of body weight	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0001507	HP:0000002	Abnormality of body height	1	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0001507	HP:0001510	Growth delay	1	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0001507	HP:0000002	Abnormality of body height	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0001507	HP:0001510	Growth delay	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0001507	HP:0004323	Abnormality of body weight	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0001507	HP:0004323	Abnormality of body weight	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0001507	HP:0001510	Growth delay	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0001507	HP:0004323	Abnormality of body weight	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0001507	HP:0001510	Growth delay	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0001507	HP:0000002	Abnormality of body height	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001507	HP:0001510	Growth delay	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001507	HP:0000002	Abnormality of body height	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0001507	HP:0001510	Growth delay	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.		16
HP:0001507	HP:0001510	Growth delay	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001507	HP:0004323	Abnormality of body weight	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0001507	HP:0001510	Growth delay	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0001507	HP:0000002	Abnormality of body height	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0001507	HP:0001510	Growth delay	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0001507	HP:0000002	Abnormality of body height	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001507	HP:0001510	Growth delay	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001507	HP:0004323	Abnormality of body weight	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001507	HP:0001510	Growth delay	1	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5	.		11
HP:0001507	HP:0001510	Growth delay	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		4
HP:0001507	HP:0001510	Growth delay	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0001507	HP:0004323	Abnormality of body weight	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0001507	HP:0000002	Abnormality of body height	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0001507	HP:0001510	Growth delay	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0001507	HP:0000002	Abnormality of body height	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0001507	HP:0001510	Growth delay	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0001507	HP:0000002	Abnormality of body height	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0001507	HP:0001510	Growth delay	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0001507	HP:0000002	Abnormality of body height	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0001507	HP:0001510	Growth delay	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001507	HP:0001510	Growth delay	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001507	HP:0000002	Abnormality of body height	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0000002	Abnormality of body height	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0001510	Growth delay	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0001510	Growth delay	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0004323	Abnormality of body weight	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0000002	Abnormality of body height	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0001507	HP:0001510	Growth delay	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0001507	HP:0001510	Growth delay	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0001507	HP:0001510	Growth delay	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome			304
HP:0001507	HP:0001510	Growth delay	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome			304
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001507	HP:0001510	Growth delay	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0001507	HP:0001510	Growth delay	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001507	HP:0001510	Growth delay	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001507	HP:0004323	Abnormality of body weight	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0001510	Growth delay	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0001507	HP:0001510	Growth delay	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0001510	Growth delay	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0004323	Abnormality of body weight	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0001510	Growth delay	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome			7
HP:0001507	HP:0001510	Growth delay	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001507	HP:0001510	Growth delay	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001507	HP:0000002	Abnormality of body height	1	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001507	HP:0001510	Growth delay	1	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001507	HP:0000002	Abnormality of body height	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001507	HP:0001510	Growth delay	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001507	HP:0004323	Abnormality of body weight	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001507	HP:0000002	Abnormality of body height	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001507	HP:0001510	Growth delay	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001507	HP:0004323	Abnormality of body weight	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001507	HP:0000002	Abnormality of body height	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0001510	Growth delay	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0004323	Abnormality of body weight	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0004323	Abnormality of body weight	1	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3			7
HP:0001507	HP:0001510	Growth delay	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0001507	HP:0004323	Abnormality of body weight	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0001507	HP:0000002	Abnormality of body height	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001507	HP:0001510	Growth delay	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001507	HP:0000002	Abnormality of body height	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0001510	Growth delay	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0100555	Asymmetric growth	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0004323	Abnormality of body weight	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0000002	Abnormality of body height	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001507	HP:0000002	Abnormality of body height	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0001507	HP:0001510	Growth delay	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001507	HP:0001510	Growth delay	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0001507	HP:0004323	Abnormality of body weight	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001507	HP:0000002	Abnormality of body height	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0001510	Growth delay	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0100555	Asymmetric growth	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0000002	Abnormality of body height	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0001507	HP:0001510	Growth delay	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0001507	HP:0004323	Abnormality of body weight	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0001507	HP:0000002	Abnormality of body height	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0001507	HP:0001510	Growth delay	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D			37
HP:0001507	HP:0004323	Abnormality of body weight	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001507	HP:0000002	Abnormality of body height	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0001507	HP:0001510	Growth delay	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0001507	HP:0004323	Abnormality of body weight	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0001507	HP:0004323	Abnormality of body weight	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0001507	HP:0000002	Abnormality of body height	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0001507	HP:0001510	Growth delay	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0001507	HP:0004323	Abnormality of body weight	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0001507	HP:0000002	Abnormality of body height	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001507	HP:0001510	Growth delay	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001507	HP:0004323	Abnormality of body weight	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001507	HP:0001510	Growth delay	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0001507	HP:0000002	Abnormality of body height	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0001507	HP:0000002	Abnormality of body height	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0001507	HP:0001510	Growth delay	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001507	HP:0001510	Growth delay	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001507	HP:0004323	Abnormality of body weight	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001507	HP:0000002	Abnormality of body height	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0001507	HP:0001510	Growth delay	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0001507	HP:0100555	Asymmetric growth	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0001507	HP:0000002	Abnormality of body height	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001507	HP:0001510	Growth delay	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001507	HP:0000002	Abnormality of body height	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0001507	HP:0001510	Growth delay	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0001507	HP:0004323	Abnormality of body weight	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0001507	HP:0000002	Abnormality of body height	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0001507	HP:0001510	Growth delay	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.		2
HP:0001507	HP:0001510	Growth delay	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001507	HP:0001510	Growth delay	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0001507	HP:0004323	Abnormality of body weight	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0001507	HP:0000002	Abnormality of body height	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0001507	HP:0001510	Growth delay	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0001507	HP:0004323	Abnormality of body weight	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0001507	HP:0000002	Abnormality of body height	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0001507	HP:0001510	Growth delay	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0001507	HP:0000002	Abnormality of body height	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001507	HP:0001510	Growth delay	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0004323	Abnormality of body weight	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001507	HP:0000002	Abnormality of body height	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0001510	Growth delay	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0001510	Growth delay	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001507	HP:0001510	Growth delay	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001507	HP:0000002	Abnormality of body height	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0001507	HP:0001510	Growth delay	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0001507	HP:0004323	Abnormality of body weight	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001507	HP:0000002	Abnormality of body height	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001507	HP:0004323	Abnormality of body weight	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001507	HP:0001510	Growth delay	1	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.		67
HP:0001507	HP:0004323	Abnormality of body weight	1	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0001507	HP:0004323	Abnormality of body weight	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001507	HP:0004323	Abnormality of body weight	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0001507	HP:0001510	Growth delay	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0001507	HP:0000002	Abnormality of body height	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0001507	HP:0000002	Abnormality of body height	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001507	HP:0001510	Growth delay	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001507	HP:0004323	Abnormality of body weight	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001507	HP:0000002	Abnormality of body height	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0001510	Growth delay	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0004323	Abnormality of body weight	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0001510	Growth delay	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.		62
HP:0001507	HP:0001510	Growth delay	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent		133
HP:0001507	HP:0001510	Growth delay	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0001507	HP:0000002	Abnormality of body height	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0001507	HP:0001510	Growth delay	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0001507	HP:0004323	Abnormality of body weight	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001507	HP:0000002	Abnormality of body height	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0001507	HP:0001510	Growth delay	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0001507	HP:0001510	Growth delay	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional		186
HP:0001507	HP:0000002	Abnormality of body height	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001507	HP:0001510	Growth delay	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001507	HP:0000002	Abnormality of body height	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0001507	HP:0001510	Growth delay	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0001507	HP:0100555	Asymmetric growth	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0001507	HP:0004323	Abnormality of body weight	1	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent			151
HP:0001507	HP:0004323	Abnormality of body weight	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001507	HP:0000002	Abnormality of body height	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0001507	HP:0001510	Growth delay	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0001507	HP:0004323	Abnormality of body weight	1	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0001507	HP:0001510	Growth delay	1	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0001507	HP:0001510	Growth delay	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0001507	HP:0004323	Abnormality of body weight	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0001510	Growth delay	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0004323	Abnormality of body weight	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0000002	Abnormality of body height	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0001507	HP:0001510	Growth delay	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0001507	HP:0000002	Abnormality of body height	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001507	HP:0001510	Growth delay	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001507	HP:0004323	Abnormality of body weight	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001507	HP:0004323	Abnormality of body weight	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0001507	HP:0001510	Growth delay	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001507	HP:0001510	Growth delay	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0001507	HP:0001510	Growth delay	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		51
HP:0001507	HP:0004323	Abnormality of body weight	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0001507	HP:0004323	Abnormality of body weight	1	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital			170
HP:0001507	HP:0004323	Abnormality of body weight	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0001507	HP:0000002	Abnormality of body height	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0001507	HP:0001510	Growth delay	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0001507	HP:0001510	Growth delay	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0001507	HP:0004323	Abnormality of body weight	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001507	HP:0000002	Abnormality of body height	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001507	HP:0001510	Growth delay	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001507	HP:0004323	Abnormality of body weight	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001507	HP:0004323	Abnormality of body weight	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0001507	HP:0000002	Abnormality of body height	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0001507	HP:0001510	Growth delay	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0001507	HP:0004323	Abnormality of body weight	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0001507	HP:0000002	Abnormality of body height	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0001507	HP:0001510	Growth delay	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0001507	HP:0004323	Abnormality of body weight	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0001507	HP:0001510	Growth delay	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0001507	HP:0001510	Growth delay	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0001507	HP:0001510	Growth delay	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0001507	HP:0001510	Growth delay	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0001507	HP:0001510	Growth delay	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0001507	HP:0001510	Growth delay	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0001507	HP:0001510	Growth delay	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0001507	HP:0001510	Growth delay	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0001507	HP:0001510	Growth delay	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0001507	HP:0001510	Growth delay	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0001507	HP:0001510	Growth delay	1	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive			54
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0001507	HP:0001510	Growth delay	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0001507	HP:0001510	Growth delay	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0001507	HP:0001510	Growth delay	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0001507	HP:0001510	Growth delay	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001507	HP:0001510	Growth delay	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001507	HP:0001510	Growth delay	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.		158
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0001507	HP:0001510	Growth delay	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0001507	HP:0001510	Growth delay	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0001507	HP:0001510	Growth delay	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0001510	Growth delay	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0001510	Growth delay	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0001507	HP:0001510	Growth delay	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0001507	HP:0001510	Growth delay	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0001507	HP:0001510	Growth delay	1	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	HP:0040283 - Occasional		83
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0001507	HP:0001510	Growth delay	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0001507	HP:0001510	Growth delay	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0001507	HP:0001510	Growth delay	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0001507	HP:0001510	Growth delay	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0001510	Growth delay	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0001507	HP:0001510	Growth delay	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0001507	HP:0001510	Growth delay	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0001507	HP:0000002	Abnormality of body height	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0001510	Growth delay	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0001510	Growth delay	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0001507	HP:0004323	Abnormality of body weight	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0001507	HP:0001510	Growth delay	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0001507	HP:0001510	Growth delay	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0001507	HP:0000002	Abnormality of body height	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001507	HP:0001510	Growth delay	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001507	HP:0004323	Abnormality of body weight	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0001507	HP:0000002	Abnormality of body height	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0001507	HP:0001510	Growth delay	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0001507	HP:0000002	Abnormality of body height	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0001507	HP:0001510	Growth delay	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0001507	HP:0001510	Growth delay	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0001507	HP:0001510	Growth delay	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001507	HP:0000002	Abnormality of body height	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0001507	HP:0004323	Abnormality of body weight	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0001507	HP:0000002	Abnormality of body height	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0001510	Growth delay	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0001507	HP:0004323	Abnormality of body weight	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0001507	HP:0000002	Abnormality of body height	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0001507	HP:0001510	Growth delay	1	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0001507	HP:0000002	Abnormality of body height	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0001510	Growth delay	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0004323	Abnormality of body weight	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0000002	Abnormality of body height	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001507	HP:0001510	Growth delay	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001507	HP:0000002	Abnormality of body height	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0001507	HP:0001510	Growth delay	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0001507	HP:0000002	Abnormality of body height	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0001507	HP:0001510	Growth delay	1	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0001507	HP:0000002	Abnormality of body height	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0001510	Growth delay	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0004323	Abnormality of body weight	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0000002	Abnormality of body height	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001507	HP:0001510	Growth delay	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001507	HP:0000002	Abnormality of body height	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0001507	HP:0001510	Growth delay	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0001507	HP:0004323	Abnormality of body weight	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0001507	HP:0000002	Abnormality of body height	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0001507	HP:0001510	Growth delay	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0001507	HP:0004323	Abnormality of body weight	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0001507	HP:0000002	Abnormality of body height	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0001507	HP:0001510	Growth delay	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0001507	HP:0004323	Abnormality of body weight	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0001507	HP:0001510	Growth delay	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0001507	HP:0000002	Abnormality of body height	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0001507	HP:0001510	Growth delay	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0001507	HP:0004323	Abnormality of body weight	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0001507	HP:0001510	Growth delay	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0001507	HP:0000002	Abnormality of body height	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001507	HP:0001510	Growth delay	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001507	HP:0004323	Abnormality of body weight	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0001507	HP:0004323	Abnormality of body weight	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0001507	HP:0004323	Abnormality of body weight	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001507	HP:0001510	Growth delay	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001507	HP:0004323	Abnormality of body weight	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001507	HP:0000002	Abnormality of body height	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0001507	HP:0001510	Growth delay	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0001507	HP:0000002	Abnormality of body height	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0001507	HP:0001510	Growth delay	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0001507	HP:0100555	Asymmetric growth	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0001507	HP:0000002	Abnormality of body height	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0001507	HP:0001510	Growth delay	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		96
HP:0001507	HP:0000002	Abnormality of body height	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0001507	HP:0001510	Growth delay	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0001507	HP:0100555	Asymmetric growth	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0001507	HP:0001510	Growth delay	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0001507	HP:0000002	Abnormality of body height	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0001507	HP:0001510	Growth delay	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0001507	HP:0000002	Abnormality of body height	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001507	HP:0001510	Growth delay	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0001507	HP:0001510	Growth delay	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0001507	HP:0004323	Abnormality of body weight	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0001507	HP:0000002	Abnormality of body height	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0001507	HP:0000002	Abnormality of body height	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0001507	HP:0004323	Abnormality of body weight	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0001507	HP:0001510	Growth delay	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001507	HP:0004323	Abnormality of body weight	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001507	HP:0000002	Abnormality of body height	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0001507	HP:0001510	Growth delay	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0000002	Abnormality of body height	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0001507	HP:0001510	Growth delay	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0001507	HP:0004323	Abnormality of body weight	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0001507	HP:0000002	Abnormality of body height	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0001507	HP:0001510	Growth delay	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0001507	HP:0004323	Abnormality of body weight	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0001507	HP:0001510	Growth delay	1	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	HP:0040283 - Occasional		6
HP:0001507	HP:0000002	Abnormality of body height	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0001510	Growth delay	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0004323	Abnormality of body weight	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0001507	HP:0000002	Abnormality of body height	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0001507	HP:0001510	Growth delay	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0001507	HP:0000002	Abnormality of body height	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0001507	HP:0001510	Growth delay	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0001507	HP:0000002	Abnormality of body height	1	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0001507	HP:0001510	Growth delay	1	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0001507	HP:0004323	Abnormality of body weight	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0001507	HP:0000002	Abnormality of body height	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0001507	HP:0000002	Abnormality of body height	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001507	HP:0001510	Growth delay	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0001507	HP:0001510	Growth delay	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001507	HP:0000002	Abnormality of body height	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001507	HP:0001510	Growth delay	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001507	HP:0001510	Growth delay	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001507	HP:0030853	Heterotaxy	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001507	HP:0001510	Growth delay	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001507	HP:0000002	Abnormality of body height	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001507	HP:0001510	Growth delay	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001507	HP:0000002	Abnormality of body height	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001507	HP:0001510	Growth delay	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001507	HP:0000002	Abnormality of body height	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001507	HP:0001510	Growth delay	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001507	HP:0000002	Abnormality of body height	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001507	HP:0001510	Growth delay	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001507	HP:0000002	Abnormality of body height	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0001510	Growth delay	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0000002	Abnormality of body height	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0001507	HP:0001510	Growth delay	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0001507	HP:0000002	Abnormality of body height	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001507	HP:0001510	Growth delay	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001507	HP:0000002	Abnormality of body height	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0001510	Growth delay	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0000002	Abnormality of body height	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0001510	Growth delay	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0001510	Growth delay	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0001507	HP:0000002	Abnormality of body height	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001507	HP:0001510	Growth delay	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001507	HP:0000002	Abnormality of body height	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001507	HP:0001510	Growth delay	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001507	HP:0000002	Abnormality of body height	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001507	HP:0001510	Growth delay	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001507	HP:0001510	Growth delay	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0001507	HP:0000002	Abnormality of body height	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001507	HP:0001510	Growth delay	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001507	HP:0004323	Abnormality of body weight	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001507	HP:0000002	Abnormality of body height	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0001507	HP:0001510	Growth delay	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent		7
HP:0001507	HP:0001510	Growth delay	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0001507	HP:0001510	Growth delay	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0001507	HP:0000002	Abnormality of body height	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001507	HP:0001510	Growth delay	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001507	HP:0000002	Abnormality of body height	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0001510	Growth delay	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0004323	Abnormality of body weight	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0004323	Abnormality of body weight	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0001507	HP:0000002	Abnormality of body height	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0001507	HP:0001510	Growth delay	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0001507	HP:0000002	Abnormality of body height	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0001507	HP:0001510	Growth delay	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0001507	HP:0001510	Growth delay	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0001507	HP:0001510	Growth delay	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001507	HP:0001510	Growth delay	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0001507	HP:0001510	Growth delay	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0001507	HP:0001510	Growth delay	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0001507	HP:0000002	Abnormality of body height	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	ORPHA:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	ORPHA:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001507	HP:0004323	Abnormality of body weight	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001507	HP:0004323	Abnormality of body weight	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001507	HP:0001510	Growth delay	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001507	HP:0000002	Abnormality of body height	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001507	HP:0004323	Abnormality of body weight	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001507	HP:0000002	Abnormality of body height	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001507	HP:0000002	Abnormality of body height	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0001507	HP:0001510	Growth delay	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0001507	HP:0001510	Growth delay	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0001507	HP:0004323	Abnormality of body weight	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0001507	HP:0000002	Abnormality of body height	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001507	HP:0001510	Growth delay	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001507	HP:0004323	Abnormality of body weight	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001507	HP:0004323	Abnormality of body weight	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001507	HP:0001510	Growth delay	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0001507	HP:0001510	Growth delay	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001507	HP:0004323	Abnormality of body weight	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001507	HP:0004323	Abnormality of body weight	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001507	HP:0001510	Growth delay	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0000002	Abnormality of body height	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0001507	HP:0001510	Growth delay	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0001510	Growth delay	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0001507	HP:0004323	Abnormality of body weight	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0000002	Abnormality of body height	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001510	Growth delay	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0000002	Abnormality of body height	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia			3
HP:0001507	HP:0001510	Growth delay	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0001507	HP:0001510	Growth delay	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0001510	Growth delay	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0001507	HP:0000002	Abnormality of body height	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0001507	HP:0001510	Growth delay	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0001507	HP:0000002	Abnormality of body height	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0001507	HP:0000002	Abnormality of body height	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0001507	HP:0000002	Abnormality of body height	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0001507	HP:0000002	Abnormality of body height	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001507	HP:0000002	Abnormality of body height	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0001507	HP:0000002	Abnormality of body height	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0001507	HP:0000002	Abnormality of body height	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0001507	HP:0001510	Growth delay	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0004323	Abnormality of body weight	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		172
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0001507	HP:0001510	Growth delay	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001507	HP:0001510	Growth delay	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0001507	HP:0001510	Growth delay	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0001507	HP:0001510	Growth delay	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001507	HP:0001510	Growth delay	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001507	HP:0000002	Abnormality of body height	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0001510	Growth delay	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0001507	HP:0004323	Abnormality of body weight	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0001507	HP:0004323	Abnormality of body weight	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001507	HP:0000002	Abnormality of body height	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001507	HP:0000002	Abnormality of body height	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0001510	Growth delay	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001507	HP:0001510	Growth delay	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0004323	Abnormality of body weight	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001507	HP:0004323	Abnormality of body weight	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0004323	Abnormality of body weight	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001507	HP:0000002	Abnormality of body height	1	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0001507	HP:0001510	Growth delay	1	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0001507	HP:0000002	Abnormality of body height	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0001507	HP:0001510	Growth delay	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0001507	HP:0000002	Abnormality of body height	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0001507	HP:0001510	Growth delay	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0001507	HP:0000002	Abnormality of body height	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0001507	HP:0000002	Abnormality of body height	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0001507	HP:0000002	Abnormality of body height	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0001510	Growth delay	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0004323	Abnormality of body weight	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0000002	Abnormality of body height	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001507	HP:0001510	Growth delay	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0004323	Abnormality of body weight	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0001507	HP:0000002	Abnormality of body height	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001507	HP:0001510	Growth delay	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0001507	HP:0001510	Growth delay	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0001507	HP:0004323	Abnormality of body weight	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0001507	HP:0001510	Growth delay	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0001507	HP:0000002	Abnormality of body height	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0001507	HP:0001510	Growth delay	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0001507	HP:0004323	Abnormality of body weight	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001507	HP:0004323	Abnormality of body weight	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0001507	HP:0000002	Abnormality of body height	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0001507	HP:0001510	Growth delay	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0001507	HP:0000002	Abnormality of body height	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0001507	HP:0001510	Growth delay	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0001507	HP:0000002	Abnormality of body height	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001507	HP:0001510	Growth delay	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001507	HP:0000002	Abnormality of body height	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0001507	HP:0001510	Growth delay	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0001507	HP:0000002	Abnormality of body height	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0001507	HP:0001510	Growth delay	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0001507	HP:0001510	Growth delay	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001507	HP:0001510	Growth delay	1	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0001507	HP:0001510	Growth delay	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0001510	Growth delay	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0001507	HP:0004323	Abnormality of body weight	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0001507	HP:0001510	Growth delay	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0001507	HP:0001510	Growth delay	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0001507	HP:0000002	Abnormality of body height	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001507	HP:0001510	Growth delay	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001507	HP:0004323	Abnormality of body weight	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001507	HP:0000002	Abnormality of body height	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001507	HP:0001510	Growth delay	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001507	HP:0100555	Asymmetric growth	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001507	HP:0000002	Abnormality of body height	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			9
HP:0001507	HP:0001510	Growth delay	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type			9
HP:0001507	HP:0001510	Growth delay	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001507	HP:0004323	Abnormality of body weight	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001507	HP:0000002	Abnormality of body height	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001507	HP:0004323	Abnormality of body weight	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001507	HP:0000002	Abnormality of body height	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0001507	HP:0001510	Growth delay	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0001507	HP:0001510	Growth delay	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional		63
HP:0001507	HP:0000002	Abnormality of body height	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0001507	HP:0001510	Growth delay	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		9
HP:0001507	HP:0000002	Abnormality of body height	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0001507	HP:0001510	Growth delay	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0001507	HP:0000002	Abnormality of body height	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0001507	HP:0001510	Growth delay	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0001507	HP:0000002	Abnormality of body height	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0001507	HP:0001510	Growth delay	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0001507	HP:0000002	Abnormality of body height	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001507	HP:0001510	Growth delay	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001507	HP:0000002	Abnormality of body height	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0001507	HP:0001510	Growth delay	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0001507	HP:0000002	Abnormality of body height	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0001507	HP:0001510	Growth delay	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0001507	HP:0030853	Heterotaxy	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001507	HP:0001510	Growth delay	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001507	HP:0004323	Abnormality of body weight	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001507	HP:0001510	Growth delay	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0001507	HP:0001510	Growth delay	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency			23
HP:0001507	HP:0000002	Abnormality of body height	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0001507	HP:0001510	Growth delay	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0001507	HP:0001510	Growth delay	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.		65
HP:0001507	HP:0004323	Abnormality of body weight	1	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14			70
HP:0001507	HP:0001510	Growth delay	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001507	HP:0004323	Abnormality of body weight	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001507	HP:0000002	Abnormality of body height	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0001507	HP:0001510	Growth delay	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0001507	HP:0004323	Abnormality of body weight	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0001507	HP:0004323	Abnormality of body weight	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0001507	HP:0000002	Abnormality of body height	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001507	HP:0001510	Growth delay	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001507	HP:0004323	Abnormality of body weight	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001507	HP:0000002	Abnormality of body height	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001507	HP:0001510	Growth delay	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001507	HP:0004323	Abnormality of body weight	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001507	HP:0000002	Abnormality of body height	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001507	HP:0001510	Growth delay	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001507	HP:0000002	Abnormality of body height	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0001507	HP:0001510	Growth delay	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001507	HP:0001510	Growth delay	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001507	HP:0004323	Abnormality of body weight	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0001507	HP:0000002	Abnormality of body height	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0000002	Abnormality of body height	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0001507	HP:0001510	Growth delay	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0001507	HP:0001510	Growth delay	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0001507	HP:0004323	Abnormality of body weight	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001507	HP:0004323	Abnormality of body weight	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001507	HP:0001510	Growth delay	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0000002	Abnormality of body height	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0001510	Growth delay	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0004323	Abnormality of body weight	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0000002	Abnormality of body height	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001507	HP:0001510	Growth delay	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001507	HP:0004323	Abnormality of body weight	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001507	HP:0004323	Abnormality of body weight	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001507	HP:0000002	Abnormality of body height	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0000002	Abnormality of body height	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001507	HP:0001510	Growth delay	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001507	HP:0004323	Abnormality of body weight	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001507	HP:0000002	Abnormality of body height	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001507	HP:0001510	Growth delay	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001507	HP:0100555	Asymmetric growth	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001507	HP:0004323	Abnormality of body weight	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001507	HP:0000002	Abnormality of body height	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001507	HP:0001510	Growth delay	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001507	HP:0004323	Abnormality of body weight	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001507	HP:0004323	Abnormality of body weight	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0001507	HP:0004323	Abnormality of body weight	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0001507	HP:0004323	Abnormality of body weight	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0001507	HP:0004323	Abnormality of body weight	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0001507	HP:0004323	Abnormality of body weight	1	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency
HP:0001507	HP:0000002	Abnormality of body height	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0001507	HP:0001510	Growth delay	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0001507	HP:0000002	Abnormality of body height	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001507	HP:0001510	Growth delay	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001507	HP:0001510	Growth delay	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0001507	HP:0004323	Abnormality of body weight	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0001507	HP:0000002	Abnormality of body height	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001507	HP:0001510	Growth delay	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001507	HP:0000002	Abnormality of body height	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0001507	HP:0001510	Growth delay	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0001507	HP:0000002	Abnormality of body height	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0001507	HP:0001510	Growth delay	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0001507	HP:0000002	Abnormality of body height	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001507	HP:0001510	Growth delay	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001507	HP:0000002	Abnormality of body height	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0001507	HP:0001510	Growth delay	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0001507	HP:0000002	Abnormality of body height	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0001507	HP:0001510	Growth delay	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0001507	HP:0000002	Abnormality of body height	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001507	HP:0001510	Growth delay	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0001507	HP:0004323	Abnormality of body weight	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001507	HP:0000002	Abnormality of body height	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001507	HP:0001510	Growth delay	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001507	HP:0004323	Abnormality of body weight	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0001507	HP:0001510	Growth delay	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0001507	HP:0001510	Growth delay	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0001507	HP:0000002	Abnormality of body height	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001507	HP:0001510	Growth delay	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0001507	HP:0004323	Abnormality of body weight	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001507	HP:0001510	Growth delay	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0001507	HP:0001510	Growth delay	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0001507	HP:0001510	Growth delay	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001507	HP:0004323	Abnormality of body weight	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001507	HP:0001510	Growth delay	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001507	HP:0004323	Abnormality of body weight	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001507	HP:0001510	Growth delay	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0001507	HP:0001510	Growth delay	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0001507	HP:0001510	Growth delay	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001507	HP:0001510	Growth delay	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001507	HP:0004323	Abnormality of body weight	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0001507	HP:0000002	Abnormality of body height	1	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0001507	HP:0001510	Growth delay	1	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0001507	HP:0001510	Growth delay	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		86
HP:0001507	HP:0004323	Abnormality of body weight	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0001507	HP:0001510	Growth delay	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0001507	HP:0001510	Growth delay	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0001507	HP:0001510	Growth delay	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001507	HP:0004323	Abnormality of body weight	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001507	HP:0004323	Abnormality of body weight	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0001507	HP:0000002	Abnormality of body height	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0001507	HP:0001510	Growth delay	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0001507	HP:0004323	Abnormality of body weight	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0001507	HP:0001510	Growth delay	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004323	Abnormality of body weight	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001507	HP:0004323	Abnormality of body weight	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001507	HP:0004323	Abnormality of body weight	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0001507	HP:0004323	Abnormality of body weight	1	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent			237
HP:0001507	HP:0001510	Growth delay	1	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001507	HP:0004323	Abnormality of body weight	1	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001507	HP:0001510	Growth delay	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0001507	HP:0004323	Abnormality of body weight	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0001507	HP:0001510	Growth delay	1	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0001507	HP:0004323	Abnormality of body weight	1	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0001507	HP:0004323	Abnormality of body weight	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0030853	Heterotaxy	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001507	HP:0001510	Growth delay	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0001507	HP:0001510	Growth delay	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0001507	HP:0000002	Abnormality of body height	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0001507	HP:0001510	Growth delay	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0001507	HP:0004323	Abnormality of body weight	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0001507	HP:0001510	Growth delay	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0001507	HP:0004323	Abnormality of body weight	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001507	HP:0001510	Growth delay	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0001507	HP:0001510	Growth delay	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0001507	HP:0001510	Growth delay	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0001507	HP:0000002	Abnormality of body height	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001507	HP:0001510	Growth delay	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001507	HP:0004323	Abnormality of body weight	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001507	HP:0000002	Abnormality of body height	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0001507	HP:0001510	Growth delay	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0001507	HP:0000002	Abnormality of body height	1	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB			50
HP:0001507	HP:0001510	Growth delay	1	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB			50
HP:0001507	HP:0000002	Abnormality of body height	1	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II			50
HP:0001507	HP:0001510	Growth delay	1	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II			50
HP:0001507	HP:0000002	Abnormality of body height	1	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV			50
HP:0001507	HP:0001510	Growth delay	1	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV	.		50
HP:0001507	HP:0000002	Abnormality of body height	1	GHR CL E G H	2690	4263	OMIM:604271	Growth hormone insensitivity, partial			98
HP:0001507	HP:0001510	Growth delay	1	GHR CL E G H	2690	4263	OMIM:604271	Growth hormone insensitivity, partial			98
HP:0001507	HP:0000002	Abnormality of body height	1	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome			98
HP:0001507	HP:0000002	Abnormality of body height	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0001510	Growth delay	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0001510	Growth delay	1	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome			98
HP:0001507	HP:0004323	Abnormality of body weight	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0000002	Abnormality of body height	1	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency			98
HP:0001507	HP:0001510	Growth delay	1	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency	HP:0040281 - Very frequent		98
HP:0001507	HP:0000002	Abnormality of body height	1	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0001507	HP:0001510	Growth delay	1	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0001507	HP:0004323	Abnormality of body weight	1	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0001507	HP:0000002	Abnormality of body height	1	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial			37
HP:0001507	HP:0001510	Growth delay	1	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial			37
HP:0001507	HP:0000002	Abnormality of body height	1	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0001507	HP:0001510	Growth delay	1	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent		37
HP:0001507	HP:0004323	Abnormality of body weight	1	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040282 - Frequent		37
HP:0001507	HP:0004323	Abnormality of body weight	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0001507	HP:0000002	Abnormality of body height	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001507	HP:0001510	Growth delay	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0001507	HP:0004323	Abnormality of body weight	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001507	HP:0000002	Abnormality of body height	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0001507	HP:0001510	Growth delay	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0001507	HP:0004323	Abnormality of body weight	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0001507	HP:0000002	Abnormality of body height	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0001507	HP:0001510	Growth delay	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0001507	HP:0004323	Abnormality of body weight	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0001507	HP:0004323	Abnormality of body weight	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001507	HP:0001510	Growth delay	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0001507	HP:0004323	Abnormality of body weight	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001507	HP:0001510	Growth delay	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0001507	HP:0004323	Abnormality of body weight	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0001507	HP:0000002	Abnormality of body height	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0001507	HP:0001510	Growth delay	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0001507	HP:0004323	Abnormality of body weight	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0001507	HP:0000002	Abnormality of body height	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0001507	HP:0001510	Growth delay	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0001507	HP:0004323	Abnormality of body weight	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0001507	HP:0000002	Abnormality of body height	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0001507	HP:0001510	Growth delay	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0001507	HP:0001510	Growth delay	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0001507	HP:0004323	Abnormality of body weight	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0001507	HP:0000002	Abnormality of body height	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0001507	HP:0001510	Growth delay	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0001507	HP:0004323	Abnormality of body weight	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0001507	HP:0000002	Abnormality of body height	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001507	HP:0001510	Growth delay	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001507	HP:0001510	Growth delay	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001507	HP:0001510	Growth delay	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001507	HP:0000002	Abnormality of body height	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001507	HP:0001510	Growth delay	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001507	HP:0004323	Abnormality of body weight	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001507	HP:0000002	Abnormality of body height	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0001507	HP:0001510	Growth delay	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0001507	HP:0000002	Abnormality of body height	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0001507	HP:0001510	Growth delay	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0001507	HP:0000002	Abnormality of body height	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001507	HP:0001510	Growth delay	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001507	HP:0000002	Abnormality of body height	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0001510	Growth delay	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0001507	HP:0001510	Growth delay	1	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0004323	Abnormality of body weight	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome			173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0001507	HP:0004323	Abnormality of body weight	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0004323	Abnormality of body weight	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0001507	HP:0001510	Growth delay	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0004323	Abnormality of body weight	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0001507	HP:0000002	Abnormality of body height	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0001507	HP:0000002	Abnormality of body height	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001507	HP:0000002	Abnormality of body height	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001507	HP:0001510	Growth delay	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001507	HP:0001510	Growth delay	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001507	HP:0004323	Abnormality of body weight	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001507	HP:0001510	Growth delay	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0001507	HP:0004323	Abnormality of body weight	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0001507	HP:0001510	Growth delay	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0001507	HP:0004323	Abnormality of body weight	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0001507	HP:0000002	Abnormality of body height	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0001507	HP:0001510	Growth delay	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0001507	HP:0000002	Abnormality of body height	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0001507	HP:0001510	Growth delay	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0001510	Growth delay	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0004323	Abnormality of body weight	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0000002	Abnormality of body height	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0001507	HP:0001510	Growth delay	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0001507	HP:0001510	Growth delay	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0001507	HP:0100555	Asymmetric growth	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0001507	HP:0001510	Growth delay	1	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2			16
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001507	HP:0100555	Asymmetric growth	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001507	HP:0033794	Acral overgrowth	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.		101
HP:0001507	HP:0000002	Abnormality of body height	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0001507	HP:0000002	Abnormality of body height	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0001507	HP:0000002	Abnormality of body height	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0001507	HP:0000002	Abnormality of body height	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB			101
HP:0001507	HP:0000002	Abnormality of body height	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0001507	HP:0000002	Abnormality of body height	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0001507	HP:0000002	Abnormality of body height	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0001507	HP:0001510	Growth delay	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0001507	HP:0004323	Abnormality of body weight	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB			1
HP:0001507	HP:0001510	Growth delay	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0001507	HP:0004323	Abnormality of body weight	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0001507	HP:0001510	Growth delay	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001507	HP:0004323	Abnormality of body weight	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001507	HP:0004323	Abnormality of body weight	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001507	HP:0000002	Abnormality of body height	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0001507	HP:0001510	Growth delay	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0001507	HP:0004323	Abnormality of body weight	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0001507	HP:0001510	Growth delay	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001507	HP:0004323	Abnormality of body weight	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001507	HP:0000002	Abnormality of body height	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0001507	HP:0001510	Growth delay	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0001507	HP:0000002	Abnormality of body height	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001507	HP:0001510	Growth delay	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001507	HP:0004323	Abnormality of body weight	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001507	HP:0000002	Abnormality of body height	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0001507	HP:0001510	Growth delay	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0001507	HP:0001510	Growth delay	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia			15
HP:0001507	HP:0000002	Abnormality of body height	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		15
HP:0001507	HP:0001510	Growth delay	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0001507	HP:0004323	Abnormality of body weight	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0001507	HP:0000002	Abnormality of body height	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		92
HP:0001507	HP:0001510	Growth delay	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0001507	HP:0004323	Abnormality of body weight	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0001507	HP:0000002	Abnormality of body height	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0001507	HP:0001510	Growth delay	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0001507	HP:0000002	Abnormality of body height	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0001507	HP:0001510	Growth delay	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040282 - Frequent		52
HP:0001507	HP:0000002	Abnormality of body height	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0001507	HP:0001510	Growth delay	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0001507	HP:0000002	Abnormality of body height	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001507	HP:0001510	Growth delay	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001507	HP:0004323	Abnormality of body weight	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001507	HP:0000002	Abnormality of body height	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001507	HP:0001510	Growth delay	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0001507	HP:0000002	Abnormality of body height	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001507	HP:0000002	Abnormality of body height	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001507	HP:0000002	Abnormality of body height	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001507	HP:0001510	Growth delay	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001507	HP:0000002	Abnormality of body height	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001507	HP:0001510	Growth delay	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001507	HP:0000002	Abnormality of body height	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001507	HP:0001510	Growth delay	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001507	HP:0000002	Abnormality of body height	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0001507	HP:0001510	Growth delay	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0001507	HP:0004323	Abnormality of body weight	1	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0004323	Abnormality of body weight	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0001507	HP:0001510	Growth delay	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0001507	HP:0000002	Abnormality of body height	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001507	HP:0033794	Acral overgrowth	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0001507	HP:0001510	Growth delay	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0001507	HP:0004323	Abnormality of body weight	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0000002	Abnormality of body height	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0001510	Growth delay	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0001510	Growth delay	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0001510	Growth delay	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0001507	HP:0100555	Asymmetric growth	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0001507	HP:0000002	Abnormality of body height	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0001507	HP:0001510	Growth delay	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome			33
HP:0001507	HP:0000002	Abnormality of body height	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0001510	Growth delay	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0000002	Abnormality of body height	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001507	HP:0001510	Growth delay	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001507	HP:0000002	Abnormality of body height	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001507	HP:0001510	Growth delay	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001507	HP:0000002	Abnormality of body height	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0001507	HP:0001510	Growth delay	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001507	HP:0000002	Abnormality of body height	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0001507	HP:0001510	Growth delay	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0001507	HP:0000002	Abnormality of body height	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0001507	HP:0001510	Growth delay	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0001507	HP:0000002	Abnormality of body height	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0001510	Growth delay	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0004323	Abnormality of body weight	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0000002	Abnormality of body height	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0001507	HP:0001510	Growth delay	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0001507	HP:0004323	Abnormality of body weight	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001507	HP:0000002	Abnormality of body height	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001507	HP:0001510	Growth delay	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001507	HP:0004323	Abnormality of body weight	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001507	HP:0000002	Abnormality of body height	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0001507	HP:0001510	Growth delay	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0001507	HP:0004323	Abnormality of body weight	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001510	Growth delay	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001507	HP:0000002	Abnormality of body height	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0001510	Growth delay	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0004323	Abnormality of body weight	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0001510	Growth delay	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001507	HP:0000002	Abnormality of body height	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001507	HP:0001510	Growth delay	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001507	HP:0004323	Abnormality of body weight	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001507	HP:0000002	Abnormality of body height	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001510	Growth delay	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001510	Growth delay	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001510	Growth delay	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001507	HP:0001510	Growth delay	1	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0001507	HP:0004323	Abnormality of body weight	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0001507	HP:0001510	Growth delay	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0001507	HP:0001510	Growth delay	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0001507	HP:0004323	Abnormality of body weight	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0001507	HP:0000002	Abnormality of body height	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001507	HP:0001510	Growth delay	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001507	HP:0001510	Growth delay	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001507	HP:0000002	Abnormality of body height	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0001507	HP:0001510	Growth delay	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0001507	HP:0004323	Abnormality of body weight	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0001507	HP:0000002	Abnormality of body height	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0001507	HP:0001510	Growth delay	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0001507	HP:0100555	Asymmetric growth	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0001507	HP:0004323	Abnormality of body weight	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0001507	HP:0000002	Abnormality of body height	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001507	HP:0001510	Growth delay	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001507	HP:0004323	Abnormality of body weight	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001507	HP:0000002	Abnormality of body height	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0001507	HP:0001510	Growth delay	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0001507	HP:0100555	Asymmetric growth	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		4
HP:0001507	HP:0004323	Abnormality of body weight	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0001507	HP:0000002	Abnormality of body height	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001507	HP:0100555	Asymmetric growth	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001507	HP:0001510	Growth delay	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0001510	Growth delay	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0004323	Abnormality of body weight	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0000002	Abnormality of body height	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0001507	HP:0001510	Growth delay	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0001507	HP:0001510	Growth delay	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001507	HP:0000002	Abnormality of body height	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001507	HP:0001510	Growth delay	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001507	HP:0004323	Abnormality of body weight	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001507	HP:0004323	Abnormality of body weight	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0001507	HP:0000002	Abnormality of body height	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001507	HP:0001510	Growth delay	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001507	HP:0000002	Abnormality of body height	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0001507	HP:0001510	Growth delay	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0001507	HP:0004323	Abnormality of body weight	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0001507	HP:0000002	Abnormality of body height	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0001507	HP:0001510	Growth delay	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0001507	HP:0004323	Abnormality of body weight	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0001507	HP:0001510	Growth delay	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0001507	HP:0000002	Abnormality of body height	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001507	HP:0001510	Growth delay	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001507	HP:0004323	Abnormality of body weight	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001507	HP:0004323	Abnormality of body weight	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0001507	HP:0004323	Abnormality of body weight	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0004323	Abnormality of body weight	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0004323	Abnormality of body weight	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0004323	Abnormality of body weight	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0004323	Abnormality of body weight	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0001507	HP:0000002	Abnormality of body height	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001507	HP:0001510	Growth delay	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001507	HP:0004323	Abnormality of body weight	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001507	HP:0000002	Abnormality of body height	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001507	HP:0001510	Growth delay	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001507	HP:0004323	Abnormality of body weight	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001507	HP:0001510	Growth delay	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0001507	HP:0004323	Abnormality of body weight	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001507	HP:0001510	Growth delay	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0001507	HP:0004323	Abnormality of body weight	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001507	HP:0001510	Growth delay	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001507	HP:0000002	Abnormality of body height	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001507	HP:0001510	Growth delay	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0001507	HP:0004323	Abnormality of body weight	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001507	HP:0001510	Growth delay	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001507	HP:0000002	Abnormality of body height	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0001507	HP:0001510	Growth delay	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0001507	HP:0004323	Abnormality of body weight	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0001507	HP:0000002	Abnormality of body height	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001507	HP:0001510	Growth delay	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001507	HP:0004323	Abnormality of body weight	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001507	HP:0004323	Abnormality of body weight	1	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0000002	Abnormality of body height	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0001507	HP:0001510	Growth delay	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0001507	HP:0004323	Abnormality of body weight	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0001507	HP:0000002	Abnormality of body height	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001507	HP:0001510	Growth delay	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001507	HP:0004323	Abnormality of body weight	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001507	HP:0000002	Abnormality of body height	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0001507	HP:0001510	Growth delay	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0001507	HP:0000002	Abnormality of body height	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0001507	HP:0001510	Growth delay	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0001507	HP:0000002	Abnormality of body height	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0001510	Growth delay	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0004323	Abnormality of body weight	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0000002	Abnormality of body height	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0001507	HP:0001510	Growth delay	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0001507	HP:0004323	Abnormality of body weight	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0001507	HP:0000002	Abnormality of body height	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0001507	HP:0001510	Growth delay	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0001507	HP:0004323	Abnormality of body weight	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0001507	HP:0000002	Abnormality of body height	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001507	HP:0001510	Growth delay	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001507	HP:0004323	Abnormality of body weight	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001507	HP:0004323	Abnormality of body weight	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0001507	HP:0001510	Growth delay	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0001507	HP:0004323	Abnormality of body weight	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0001507	HP:0000002	Abnormality of body height	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0001507	HP:0000002	Abnormality of body height	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0001510	Growth delay	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0004323	Abnormality of body weight	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0000002	Abnormality of body height	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0001507	HP:0001510	Growth delay	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0001507	HP:0000002	Abnormality of body height	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0001507	HP:0001510	Growth delay	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0001507	HP:0000002	Abnormality of body height	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0001507	HP:0001510	Growth delay	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		21
HP:0001507	HP:0000002	Abnormality of body height	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0001507	HP:0001510	Growth delay	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0001507	HP:0004323	Abnormality of body weight	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0001507	HP:0001510	Growth delay	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0001507	HP:0004323	Abnormality of body weight	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0001507	HP:0000002	Abnormality of body height	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0001507	HP:0001510	Growth delay	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0001507	HP:0004323	Abnormality of body weight	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0001507	HP:0000002	Abnormality of body height	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0001507	HP:0001510	Growth delay	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0001507	HP:0004323	Abnormality of body weight	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0001507	HP:0000002	Abnormality of body height	1	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia			21
HP:0001507	HP:0001510	Growth delay	1	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia			21
HP:0001507	HP:0004323	Abnormality of body weight	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0001507	HP:0000002	Abnormality of body height	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0001507	HP:0004323	Abnormality of body weight	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0001507	HP:0004323	Abnormality of body weight	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0001507	HP:0004323	Abnormality of body weight	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0001507	HP:0000002	Abnormality of body height	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0001507	HP:0001510	Growth delay	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0001507	HP:0001510	Growth delay	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001507	HP:0001510	Growth delay	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0001507	HP:0000002	Abnormality of body height	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001507	HP:0001510	Growth delay	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0001507	HP:0000002	Abnormality of body height	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001507	HP:0001510	Growth delay	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease			1
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0001507	HP:0000002	Abnormality of body height	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0001510	Growth delay	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0001507	HP:0000002	Abnormality of body height	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0001510	Growth delay	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0001507	HP:0001510	Growth delay	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent		148
HP:0001507	HP:0004323	Abnormality of body weight	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0001507	HP:0004323	Abnormality of body weight	1	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0000002	Abnormality of body height	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0001507	HP:0001510	Growth delay	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0001510	Growth delay	1	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0001510	Growth delay	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001507	HP:0100555	Asymmetric growth	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0001507	HP:0004323	Abnormality of body weight	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001507	HP:0000002	Abnormality of body height	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0001507	HP:0001510	Growth delay	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0001507	HP:0004323	Abnormality of body weight	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001507	HP:0004323	Abnormality of body weight	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0001510	Growth delay	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent			161
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0001507	HP:0001510	Growth delay	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0001507	HP:0000002	Abnormality of body height	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0001507	HP:0001510	Growth delay	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent			90
HP:0001507	HP:0100555	Asymmetric growth	1	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent			138
HP:0001507	HP:0000002	Abnormality of body height	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0001507	HP:0001510	Growth delay	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0001507	HP:0001510	Growth delay	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0001507	HP:0004323	Abnormality of body weight	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0001507	HP:0000002	Abnormality of body height	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001507	HP:0001510	Growth delay	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001507	HP:0000002	Abnormality of body height	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001507	HP:0001510	Growth delay	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001507	HP:0000002	Abnormality of body height	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001507	HP:0001510	Growth delay	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001507	HP:0004323	Abnormality of body weight	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001507	HP:0000002	Abnormality of body height	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001507	HP:0001510	Growth delay	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001507	HP:0004323	Abnormality of body weight	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001507	HP:0000002	Abnormality of body height	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0001507	HP:0001510	Growth delay	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0001507	HP:0000002	Abnormality of body height	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0001507	HP:0001510	Growth delay	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0001507	HP:0000002	Abnormality of body height	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0001507	HP:0001510	Growth delay	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent		39
HP:0001507	HP:0000002	Abnormality of body height	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E			25
HP:0001507	HP:0001510	Growth delay	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E			25
HP:0001507	HP:0100555	Asymmetric growth	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E			25
HP:0001507	HP:0000002	Abnormality of body height	1	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0001507	HP:0001510	Growth delay	1	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0001507	HP:0001510	Growth delay	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001507	HP:0004323	Abnormality of body weight	1	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA			23
HP:0001507	HP:0004323	Abnormality of body weight	1	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0001507	HP:0001510	Growth delay	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001507	HP:0004323	Abnormality of body weight	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001507	HP:0000002	Abnormality of body height	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0001507	HP:0000002	Abnormality of body height	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001507	HP:0001510	Growth delay	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001507	HP:0000002	Abnormality of body height	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001507	HP:0000002	Abnormality of body height	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001507	HP:0001510	Growth delay	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001507	HP:0001510	Growth delay	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001507	HP:0004323	Abnormality of body weight	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001507	HP:0004323	Abnormality of body weight	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001507	HP:0001510	Growth delay	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional		113
HP:0001507	HP:0100555	Asymmetric growth	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0001507	HP:0100555	Asymmetric growth	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0001507	HP:0000002	Abnormality of body height	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0001507	HP:0001510	Growth delay	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0001507	HP:0100555	Asymmetric growth	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0001507	HP:0000002	Abnormality of body height	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001507	HP:0001510	Growth delay	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001507	HP:0001510	Growth delay	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		8
HP:0001507	HP:0001510	Growth delay	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0001507	HP:0004323	Abnormality of body weight	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0001507	HP:0004323	Abnormality of body weight	1	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2			5
HP:0001507	HP:0000002	Abnormality of body height	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001507	HP:0000002	Abnormality of body height	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0001507	HP:0001510	Growth delay	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.		14
HP:0001507	HP:0001510	Growth delay	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001507	HP:0004323	Abnormality of body weight	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001507	HP:0004323	Abnormality of body weight	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0001507	HP:0004323	Abnormality of body weight	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001507	HP:0000002	Abnormality of body height	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0001507	HP:0001510	Growth delay	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0001507	HP:0004323	Abnormality of body weight	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0001507	HP:0004323	Abnormality of body weight	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0001507	HP:0004323	Abnormality of body weight	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0001507	HP:0000002	Abnormality of body height	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001507	HP:0001510	Growth delay	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001507	HP:0001510	Growth delay	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001507	HP:0100555	Asymmetric growth	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001507	HP:0004323	Abnormality of body weight	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001507	HP:0000002	Abnormality of body height	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0000002	Abnormality of body height	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0001510	Growth delay	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0001510	Growth delay	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0000002	Abnormality of body height	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001507	HP:0001510	Growth delay	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001507	HP:0004323	Abnormality of body weight	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001507	HP:0000002	Abnormality of body height	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0001507	HP:0001510	Growth delay	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0001507	HP:0001510	Growth delay	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0001507	HP:0004323	Abnormality of body weight	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0001507	HP:0004323	Abnormality of body weight	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0001507	HP:0004323	Abnormality of body weight	1	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0001507	HP:0000002	Abnormality of body height	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0001507	HP:0001510	Growth delay	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0001507	HP:0004323	Abnormality of body weight	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0001507	HP:0000002	Abnormality of body height	1	HYAL1 CL E G H	3373	5320	ORPHA:67041	Hyaluronidase deficiency			28
HP:0001507	HP:0001510	Growth delay	1	HYAL1 CL E G H	3373	5320	ORPHA:67041	Hyaluronidase deficiency			28
HP:0001507	HP:0000002	Abnormality of body height	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0001507	HP:0001510	Growth delay	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0001507	HP:0001510	Growth delay	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001507	HP:0001510	Growth delay	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0001507	HP:0004323	Abnormality of body weight	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0001507	HP:0001510	Growth delay	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001507	HP:0001510	Growth delay	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0004323	Abnormality of body weight	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0000002	Abnormality of body height	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001507	HP:0001510	Growth delay	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001507	HP:0001510	Growth delay	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001510	Growth delay	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0001507	HP:0000002	Abnormality of body height	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0001507	HP:0001510	Growth delay	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0001507	HP:0000002	Abnormality of body height	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0001507	HP:0001510	Growth delay	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0001507	HP:0001510	Growth delay	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0001507	HP:0004323	Abnormality of body weight	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0000002	Abnormality of body height	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0001507	HP:0001510	Growth delay	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		15
HP:0001507	HP:0000002	Abnormality of body height	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0001510	Growth delay	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0004323	Abnormality of body weight	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0000002	Abnormality of body height	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0001507	HP:0001510	Growth delay	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		29
HP:0001507	HP:0004323	Abnormality of body weight	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0004323	Abnormality of body weight	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0001507	HP:0000002	Abnormality of body height	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0001507	HP:0001510	Growth delay	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent		86
HP:0001507	HP:0000002	Abnormality of body height	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0001507	HP:0001510	Growth delay	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0001507	HP:0000002	Abnormality of body height	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0001507	HP:0001510	Growth delay	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0001507	HP:0000002	Abnormality of body height	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001507	HP:0000002	Abnormality of body height	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0001507	HP:0001510	Growth delay	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0001507	HP:0001510	Growth delay	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001507	HP:0000002	Abnormality of body height	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0001507	HP:0000002	Abnormality of body height	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0001507	HP:0001510	Growth delay	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0001507	HP:0001510	Growth delay	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0001507	HP:0000002	Abnormality of body height	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0001507	HP:0001510	Growth delay	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0001507	HP:0001510	Growth delay	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001507	HP:0004323	Abnormality of body weight	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001507	HP:0000002	Abnormality of body height	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001507	HP:0001510	Growth delay	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001507	HP:0004323	Abnormality of body weight	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001507	HP:0000002	Abnormality of body height	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0001507	HP:0001510	Growth delay	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0001507	HP:0004323	Abnormality of body weight	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0001507	HP:0004323	Abnormality of body weight	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0001507	HP:0004323	Abnormality of body weight	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0001507	HP:0000002	Abnormality of body height	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0001507	HP:0000002	Abnormality of body height	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001507	HP:0001510	Growth delay	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0001507	HP:0001510	Growth delay	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001507	HP:0000002	Abnormality of body height	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome			148
HP:0001507	HP:0001510	Growth delay	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome			148
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0001507	HP:0000002	Abnormality of body height	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0001510	Growth delay	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0000002	Abnormality of body height	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0001507	HP:0001510	Growth delay	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001507	HP:0000002	Abnormality of body height	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome			48
HP:0001507	HP:0001510	Growth delay	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome			48
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0000002	Abnormality of body height	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001507	HP:0001510	Growth delay	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001507	HP:0000002	Abnormality of body height	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0001510	Growth delay	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19			1
HP:0001507	HP:0000002	Abnormality of body height	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0001507	HP:0001510	Growth delay	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0001507	HP:0000002	Abnormality of body height	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0001507	HP:0001510	Growth delay	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0001507	HP:0000002	Abnormality of body height	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0001507	HP:0001510	Growth delay	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0001507	HP:0000002	Abnormality of body height	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0001507	HP:0001510	Growth delay	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0001507	HP:0000002	Abnormality of body height	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0001507	HP:0001510	Growth delay	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0001507	HP:0000002	Abnormality of body height	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0001507	HP:0001510	Growth delay	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0001507	HP:0000002	Abnormality of body height	1	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2			65
HP:0001507	HP:0001510	Growth delay	1	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2			65
HP:0001507	HP:0000002	Abnormality of body height	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome			65
HP:0001507	HP:0001510	Growth delay	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome			65
HP:0001507	HP:0000002	Abnormality of body height	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001507	HP:0001510	Growth delay	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001507	HP:0004323	Abnormality of body weight	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0000002	Abnormality of body height	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0001507	HP:0001510	Growth delay	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001507	HP:0001510	Growth delay	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001507	HP:0000002	Abnormality of body height	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001507	HP:0001510	Growth delay	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001507	HP:0000002	Abnormality of body height	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0001507	HP:0001510	Growth delay	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0001507	HP:0000002	Abnormality of body height	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0001507	HP:0001510	Growth delay	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040281 - Very frequent		268
HP:0001507	HP:0000002	Abnormality of body height	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001507	HP:0001510	Growth delay	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001507	HP:0000002	Abnormality of body height	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001507	HP:0100555	Asymmetric growth	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0001507	HP:0001510	Growth delay	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0001507	HP:0100555	Asymmetric growth	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0001507	HP:0001510	Growth delay	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001507	HP:0001510	Growth delay	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001507	HP:0001510	Growth delay	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001507	HP:0100555	Asymmetric growth	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001507	HP:0000002	Abnormality of body height	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0001507	HP:0001510	Growth delay	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0001507	HP:0100555	Asymmetric growth	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		9
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0001507	HP:0004323	Abnormality of body weight	1	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0001510	Growth delay	1	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0001507	HP:0001510	Growth delay	1	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040281 - Very frequent		53
HP:0001507	HP:0004323	Abnormality of body weight	1	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0001507	HP:0004323	Abnormality of body weight	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0001507	HP:0004323	Abnormality of body weight	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0001507	HP:0004323	Abnormality of body weight	1	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0001507	HP:0004323	Abnormality of body weight	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0001507	HP:0004323	Abnormality of body weight	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0001507	HP:0001510	Growth delay	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001507	HP:0004323	Abnormality of body weight	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001507	HP:0004323	Abnormality of body weight	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0001507	HP:0004323	Abnormality of body weight	1	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement			12
HP:0001507	HP:0000002	Abnormality of body height	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0000002	Abnormality of body height	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0001510	Growth delay	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0001510	Growth delay	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0000002	Abnormality of body height	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1			44
HP:0001507	HP:0001510	Growth delay	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1			44
HP:0001507	HP:0000002	Abnormality of body height	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1			44
HP:0001507	HP:0001510	Growth delay	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1			44
HP:0001507	HP:0004323	Abnormality of body weight	1	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15			4
HP:0001507	HP:0000002	Abnormality of body height	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0001507	HP:0000002	Abnormality of body height	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0001507	HP:0001510	Growth delay	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0001507	HP:0001510	Growth delay	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0001507	HP:0100555	Asymmetric growth	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0001507	HP:0004323	Abnormality of body weight	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0001507	HP:0004323	Abnormality of body weight	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0001510	Growth delay	1	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28			64
HP:0001507	HP:0000002	Abnormality of body height	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0001507	HP:0001510	Growth delay	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0001507	HP:0004323	Abnormality of body weight	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001507	HP:0004323	Abnormality of body weight	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001507	HP:0004323	Abnormality of body weight	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0001507	HP:0001510	Growth delay	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001507	HP:0001510	Growth delay	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11			3
HP:0001507	HP:0004323	Abnormality of body weight	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11			3
HP:0001507	HP:0004323	Abnormality of body weight	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0001507	HP:0004323	Abnormality of body weight	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001507	HP:0001510	Growth delay	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0001510	Growth delay	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001507	HP:0001510	Growth delay	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0001510	Growth delay	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked			48
HP:0001507	HP:0004323	Abnormality of body weight	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0001507	HP:0004323	Abnormality of body weight	1	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent			2
HP:0001507	HP:0001510	Growth delay	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		2
HP:0001507	HP:0004323	Abnormality of body weight	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			2
HP:0001507	HP:0000002	Abnormality of body height	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001507	HP:0001510	Growth delay	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001507	HP:0001510	Growth delay	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001507	HP:0004323	Abnormality of body weight	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001507	HP:0004323	Abnormality of body weight	1	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0001507	HP:0004323	Abnormality of body weight	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0001507	HP:0004323	Abnormality of body weight	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0001507	HP:0004323	Abnormality of body weight	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0001507	HP:0004323	Abnormality of body weight	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0001507	HP:0004323	Abnormality of body weight	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0001507	HP:0004323	Abnormality of body weight	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0001507	HP:0000002	Abnormality of body height	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0001507	HP:0001510	Growth delay	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0001507	HP:0001510	Growth delay	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0001507	HP:0000002	Abnormality of body height	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0001507	HP:0000002	Abnormality of body height	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001507	HP:0001510	Growth delay	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0001507	HP:0001510	Growth delay	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001507	HP:0000002	Abnormality of body height	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001507	HP:0001510	Growth delay	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001507	HP:0004323	Abnormality of body weight	1	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0001507	HP:0001510	Growth delay	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0001507	HP:0004323	Abnormality of body weight	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0001507	HP:0001510	Growth delay	1	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0001507	HP:0001510	Growth delay	1	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0001507	HP:0004323	Abnormality of body weight	1	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0001507	HP:0001510	Growth delay	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0001507	HP:0004323	Abnormality of body weight	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0001507	HP:0001510	Growth delay	1	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0001507	HP:0001510	Growth delay	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0001507	HP:0004323	Abnormality of body weight	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0001507	HP:0000002	Abnormality of body height	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0001507	HP:0001510	Growth delay	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0001507	HP:0004323	Abnormality of body weight	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0001507	HP:0000002	Abnormality of body height	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001507	HP:0001510	Growth delay	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001507	HP:0000002	Abnormality of body height	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001507	HP:0001510	Growth delay	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001507	HP:0000002	Abnormality of body height	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0001507	HP:0001510	Growth delay	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0001507	HP:0000002	Abnormality of body height	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001507	HP:0001510	Growth delay	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001507	HP:0004323	Abnormality of body weight	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001507	HP:0000002	Abnormality of body height	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0001507	HP:0001510	Growth delay	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0001507	HP:0000002	Abnormality of body height	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001507	HP:0001510	Growth delay	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001510	Growth delay	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0001507	HP:0001510	Growth delay	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0001507	HP:0000002	Abnormality of body height	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001507	HP:0001510	Growth delay	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001507	HP:0004323	Abnormality of body weight	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0001507	HP:0000002	Abnormality of body height	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001507	HP:0001510	Growth delay	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001507	HP:0004323	Abnormality of body weight	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001507	HP:0004323	Abnormality of body weight	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001507	HP:0004323	Abnormality of body weight	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0001507	HP:0004323	Abnormality of body weight	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001507	HP:0004323	Abnormality of body weight	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001507	HP:0004323	Abnormality of body weight	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0001507	HP:0004323	Abnormality of body weight	1	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent			5
HP:0001507	HP:0004323	Abnormality of body weight	1	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0000002	Abnormality of body height	1	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0001507	HP:0001510	Growth delay	1	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0001507	HP:0001510	Growth delay	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0001507	HP:0000002	Abnormality of body height	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0001510	Growth delay	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001507	HP:0001510	Growth delay	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0001507	HP:0000002	Abnormality of body height	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0001507	HP:0001510	Growth delay	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0001510	Growth delay	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0001507	HP:0001510	Growth delay	1	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4	.		130
HP:0001507	HP:0004323	Abnormality of body weight	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001507	HP:0001510	Growth delay	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0001507	HP:0000002	Abnormality of body height	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0001507	HP:0001510	Growth delay	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0001507	HP:0004323	Abnormality of body weight	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0001507	HP:0000002	Abnormality of body height	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0001507	HP:0001510	Growth delay	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0001507	HP:0004323	Abnormality of body weight	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0001507	HP:0004323	Abnormality of body weight	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0001507	HP:0004323	Abnormality of body weight	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0001507	HP:0004323	Abnormality of body weight	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0001507	HP:0004323	Abnormality of body weight	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0001507	HP:0004323	Abnormality of body weight	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0001507	HP:0004323	Abnormality of body weight	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0001507	HP:0001510	Growth delay	1	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0001507	HP:0000002	Abnormality of body height	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001507	HP:0001510	Growth delay	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0001507	HP:0004323	Abnormality of body weight	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0001507	HP:0001510	Growth delay	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001507	HP:0000002	Abnormality of body height	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001507	HP:0001510	Growth delay	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001507	HP:0004323	Abnormality of body weight	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001507	HP:0000002	Abnormality of body height	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001507	HP:0001510	Growth delay	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001507	HP:0004323	Abnormality of body weight	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001507	HP:0000002	Abnormality of body height	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001507	HP:0001510	Growth delay	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001507	HP:0004323	Abnormality of body weight	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001507	HP:0001510	Growth delay	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001507	HP:0004323	Abnormality of body weight	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001507	HP:0001510	Growth delay	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001507	HP:0100555	Asymmetric growth	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001507	HP:0001510	Growth delay	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0001507	HP:0000002	Abnormality of body height	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001507	HP:0001510	Growth delay	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001507	HP:0004323	Abnormality of body weight	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001507	HP:0000002	Abnormality of body height	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0001507	HP:0001510	Growth delay	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0001507	HP:0001510	Growth delay	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0001507	HP:0000002	Abnormality of body height	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0001507	HP:0001510	Growth delay	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0001507	HP:0000002	Abnormality of body height	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001507	HP:0004323	Abnormality of body weight	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001507	HP:0000002	Abnormality of body height	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0001510	Growth delay	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0000002	Abnormality of body height	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0001507	HP:0001510	Growth delay	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0001507	HP:0000002	Abnormality of body height	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001507	HP:0001510	Growth delay	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001507	HP:0100555	Asymmetric growth	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001507	HP:0001510	Growth delay	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001507	HP:0000002	Abnormality of body height	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0001507	HP:0001510	Growth delay	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0001507	HP:0000002	Abnormality of body height	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0001507	HP:0001510	Growth delay	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0001507	HP:0001510	Growth delay	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0001507	HP:0000002	Abnormality of body height	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001507	HP:0001510	Growth delay	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001507	HP:0000002	Abnormality of body height	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0001507	HP:0001510	Growth delay	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent			127
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0001507	HP:0001510	Growth delay	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0001507	HP:0001510	Growth delay	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0001507	HP:0001510	Growth delay	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0001507	HP:0000002	Abnormality of body height	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0001507	HP:0001510	Growth delay	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0001507	HP:0000002	Abnormality of body height	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0001507	HP:0001510	Growth delay	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0001507	HP:0000002	Abnormality of body height	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0001507	HP:0001510	Growth delay	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0001507	HP:0001510	Growth delay	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0001507	HP:0001510	Growth delay	1	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0001507	HP:0001510	Growth delay	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0004323	Abnormality of body weight	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0000002	Abnormality of body height	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001507	HP:0100555	Asymmetric growth	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001507	HP:0000002	Abnormality of body height	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001507	HP:0100555	Asymmetric growth	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001507	HP:0100555	Asymmetric growth	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0001507	HP:0000002	Abnormality of body height	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001507	HP:0001510	Growth delay	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001507	HP:0000002	Abnormality of body height	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0001507	HP:0001510	Growth delay	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0001507	HP:0000002	Abnormality of body height	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001507	HP:0001510	Growth delay	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001507	HP:0030853	Heterotaxy	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001507	HP:0000002	Abnormality of body height	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0001507	HP:0001510	Growth delay	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0001507	HP:0004323	Abnormality of body weight	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0001507	HP:0000002	Abnormality of body height	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0001507	HP:0001510	Growth delay	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0001507	HP:0000002	Abnormality of body height	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0001507	HP:0001510	Growth delay	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0001507	HP:0004323	Abnormality of body weight	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0001507	HP:0000002	Abnormality of body height	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001507	HP:0001510	Growth delay	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0001507	HP:0000002	Abnormality of body height	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0001510	Growth delay	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0004323	Abnormality of body weight	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0001510	Growth delay	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0001507	HP:0000002	Abnormality of body height	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0001507	HP:0001510	Growth delay	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0001507	HP:0004323	Abnormality of body weight	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0001507	HP:0000002	Abnormality of body height	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0001510	Growth delay	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0004323	Abnormality of body weight	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0000002	Abnormality of body height	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0001507	HP:0001510	Growth delay	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0001507	HP:0000002	Abnormality of body height	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0001507	HP:0001510	Growth delay	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0001507	HP:0004323	Abnormality of body weight	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0001507	HP:0000002	Abnormality of body height	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0001507	HP:0001510	Growth delay	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0001507	HP:0004323	Abnormality of body weight	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0004323	Abnormality of body weight	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001507	HP:0004323	Abnormality of body weight	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001507	HP:0001510	Growth delay	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001507	HP:0000002	Abnormality of body height	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0001507	HP:0001510	Growth delay	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		9
HP:0001507	HP:0001510	Growth delay	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0001507	HP:0000002	Abnormality of body height	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0001507	HP:0001510	Growth delay	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0001507	HP:0000002	Abnormality of body height	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001507	HP:0001510	Growth delay	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001507	HP:0001510	Growth delay	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001507	HP:0004323	Abnormality of body weight	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0001507	HP:0004323	Abnormality of body weight	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0001507	HP:0000002	Abnormality of body height	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0001507	HP:0001510	Growth delay	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0001507	HP:0001510	Growth delay	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001507	HP:0000002	Abnormality of body height	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0001507	HP:0001510	Growth delay	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0001507	HP:0000002	Abnormality of body height	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0001507	HP:0001510	Growth delay	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0001507	HP:0004323	Abnormality of body weight	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0001507	HP:0000002	Abnormality of body height	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0001507	HP:0001510	Growth delay	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0001507	HP:0001510	Growth delay	1	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3			15
HP:0001507	HP:0001510	Growth delay	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001507	HP:0000002	Abnormality of body height	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0001507	HP:0001510	Growth delay	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0001507	HP:0004323	Abnormality of body weight	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0001507	HP:0000002	Abnormality of body height	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0001507	HP:0001510	Growth delay	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0001507	HP:0000002	Abnormality of body height	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0001507	HP:0001510	Growth delay	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0001507	HP:0004323	Abnormality of body weight	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0001507	HP:0000002	Abnormality of body height	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0001507	HP:0001510	Growth delay	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0001507	HP:0001510	Growth delay	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0004323	Abnormality of body weight	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0000002	Abnormality of body height	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		14
HP:0001507	HP:0001510	Growth delay	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0001507	HP:0004323	Abnormality of body weight	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0001507	HP:0000002	Abnormality of body height	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central			14
HP:0001507	HP:0001510	Growth delay	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central			14
HP:0001507	HP:0004323	Abnormality of body weight	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0001507	HP:0004323	Abnormality of body weight	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0000002	Abnormality of body height	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001507	HP:0001510	Growth delay	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001507	HP:0004323	Abnormality of body weight	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001507	HP:0001510	Growth delay	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0001507	HP:0004323	Abnormality of body weight	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0001507	HP:0000002	Abnormality of body height	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001507	HP:0004323	Abnormality of body weight	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001507	HP:0004323	Abnormality of body weight	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0001507	HP:0000002	Abnormality of body height	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0001510	Growth delay	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001507	HP:0000002	Abnormality of body height	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0000002	Abnormality of body height	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0001510	Growth delay	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0001510	Growth delay	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0001507	HP:0004323	Abnormality of body weight	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0004323	Abnormality of body weight	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0001510	Growth delay	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0001507	HP:0000002	Abnormality of body height	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0001507	HP:0001510	Growth delay	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0001507	HP:0000002	Abnormality of body height	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0001507	HP:0001510	Growth delay	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0001507	HP:0001510	Growth delay	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2	.		99
HP:0001507	HP:0000002	Abnormality of body height	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0001507	HP:0001510	Growth delay	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0001507	HP:0004323	Abnormality of body weight	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0001507	HP:0000002	Abnormality of body height	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0001507	HP:0001510	Growth delay	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0001507	HP:0004323	Abnormality of body weight	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0001507	HP:0000002	Abnormality of body height	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001507	HP:0001510	Growth delay	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0001507	HP:0004323	Abnormality of body weight	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0001507	HP:0000002	Abnormality of body height	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0001507	HP:0001510	Growth delay	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		112
HP:0001507	HP:0000002	Abnormality of body height	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001507	HP:0001510	Growth delay	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001507	HP:0004323	Abnormality of body weight	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001507	HP:0004323	Abnormality of body weight	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0001507	HP:0001510	Growth delay	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional		196
HP:0001507	HP:0100555	Asymmetric growth	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0001507	HP:0004323	Abnormality of body weight	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0001507	HP:0000002	Abnormality of body height	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001507	HP:0001510	Growth delay	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001507	HP:0000002	Abnormality of body height	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001507	HP:0001510	Growth delay	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001507	HP:0001510	Growth delay	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0001507	HP:0100555	Asymmetric growth	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001507	HP:0000002	Abnormality of body height	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0001507	HP:0001510	Growth delay	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0001507	HP:0100555	Asymmetric growth	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0001507	HP:0001510	Growth delay	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0001507	HP:0004323	Abnormality of body weight	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0001507	HP:0000002	Abnormality of body height	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0001507	HP:0001510	Growth delay	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0001507	HP:0001510	Growth delay	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0001507	HP:0001510	Growth delay	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.		110
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0001507	HP:0001510	Growth delay	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0001507	HP:0001510	Growth delay	1	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0001507	HP:0001510	Growth delay	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.		173
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0001507	HP:0004323	Abnormality of body weight	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0001507	HP:0000002	Abnormality of body height	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001507	HP:0001510	Growth delay	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001507	HP:0000002	Abnormality of body height	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0001507	HP:0000002	Abnormality of body height	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0001507	HP:0001510	Growth delay	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0001507	HP:0001510	Growth delay	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0001507	HP:0000002	Abnormality of body height	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001510	Growth delay	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0001507	HP:0001510	Growth delay	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0001507	HP:0004323	Abnormality of body weight	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0001507	HP:0004323	Abnormality of body weight	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0001507	HP:0001510	Growth delay	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0001507	HP:0001510	Growth delay	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0001507	HP:0004323	Abnormality of body weight	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0001507	HP:0001510	Growth delay	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001507	HP:0004323	Abnormality of body weight	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0001507	HP:0001510	Growth delay	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0001507	HP:0001510	Growth delay	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0001507	HP:0004323	Abnormality of body weight	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0001507	HP:0004323	Abnormality of body weight	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0001507	HP:0001510	Growth delay	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0001507	HP:0001510	Growth delay	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0001507	HP:0004323	Abnormality of body weight	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0001507	HP:0000002	Abnormality of body height	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein			1
HP:0001507	HP:0001510	Growth delay	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein			1
HP:0001507	HP:0000002	Abnormality of body height	1	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency			1
HP:0001507	HP:0001510	Growth delay	1	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency			1
HP:0001507	HP:0000002	Abnormality of body height	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0001507	HP:0001510	Growth delay	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0001507	HP:0000002	Abnormality of body height	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0001507	HP:0001510	Growth delay	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0001507	HP:0001510	Growth delay	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001507	HP:0001510	Growth delay	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001507	HP:0000002	Abnormality of body height	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001507	HP:0004323	Abnormality of body weight	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001507	HP:0000002	Abnormality of body height	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0001507	HP:0001510	Growth delay	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0001507	HP:0004323	Abnormality of body weight	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001507	HP:0000002	Abnormality of body height	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001507	HP:0000002	Abnormality of body height	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001507	HP:0001510	Growth delay	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001507	HP:0001510	Growth delay	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001507	HP:0000002	Abnormality of body height	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0001510	Growth delay	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0004323	Abnormality of body weight	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0000002	Abnormality of body height	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0001510	Growth delay	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0004323	Abnormality of body weight	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22			1
HP:0001507	HP:0000002	Abnormality of body height	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001507	HP:0001510	Growth delay	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001507	HP:0000002	Abnormality of body height	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0001507	HP:0001510	Growth delay	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0001507	HP:0004323	Abnormality of body weight	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0001507	HP:0000002	Abnormality of body height	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0001507	HP:0001510	Growth delay	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0001507	HP:0004323	Abnormality of body weight	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction			47
HP:0001507	HP:0004323	Abnormality of body weight	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0001507	HP:0000002	Abnormality of body height	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0001507	HP:0001510	Growth delay	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0001507	HP:0004323	Abnormality of body weight	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0001507	HP:0004323	Abnormality of body weight	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0001507	HP:0000002	Abnormality of body height	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001510	Growth delay	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001510	Growth delay	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0030853	Heterotaxy	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0001507	HP:0001510	Growth delay	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0001507	HP:0000002	Abnormality of body height	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0001507	HP:0001510	Growth delay	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0001507	HP:0000002	Abnormality of body height	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001507	HP:0001510	Growth delay	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001507	HP:0004323	Abnormality of body weight	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001507	HP:0001510	Growth delay	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL			1
HP:0001507	HP:0001510	Growth delay	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0001507	HP:0000002	Abnormality of body height	1	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty			67
HP:0001507	HP:0000002	Abnormality of body height	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0001507	HP:0001510	Growth delay	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0001507	HP:0001510	Growth delay	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0001507	HP:0000002	Abnormality of body height	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0001507	HP:0001510	Growth delay	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0001507	HP:0004323	Abnormality of body weight	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0001507	HP:0000002	Abnormality of body height	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0001507	HP:0001510	Growth delay	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0001507	HP:0000002	Abnormality of body height	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0001507	HP:0001510	Growth delay	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		43
HP:0001507	HP:0000002	Abnormality of body height	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0001507	HP:0001510	Growth delay	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0001507	HP:0004323	Abnormality of body weight	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0001507	HP:0000002	Abnormality of body height	1	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0001507	HP:0001510	Growth delay	1	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0001507	HP:0000002	Abnormality of body height	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0001507	HP:0001510	Growth delay	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0001507	HP:0004323	Abnormality of body weight	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0001507	HP:0001510	Growth delay	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0001507	HP:0000002	Abnormality of body height	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0001507	HP:0001510	Growth delay	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0001507	HP:0000002	Abnormality of body height	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001507	HP:0001510	Growth delay	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001507	HP:0001510	Growth delay	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0001507	HP:0004323	Abnormality of body weight	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0001507	HP:0000002	Abnormality of body height	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0001507	HP:0001510	Growth delay	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0001507	HP:0001510	Growth delay	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent		88
HP:0001507	HP:0004323	Abnormality of body weight	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0001507	HP:0004323	Abnormality of body weight	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001507	HP:0000002	Abnormality of body height	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	.		25
HP:0001507	HP:0004323	Abnormality of body weight	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0001507	HP:0004323	Abnormality of body weight	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001507	HP:0001510	Growth delay	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent		73
HP:0001507	HP:0004323	Abnormality of body weight	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0001507	HP:0004323	Abnormality of body weight	1	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent			35
HP:0001507	HP:0004323	Abnormality of body weight	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001507	HP:0000002	Abnormality of body height	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0001507	HP:0001510	Growth delay	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0001507	HP:0004323	Abnormality of body weight	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001507	HP:0000002	Abnormality of body height	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			106
HP:0001507	HP:0001510	Growth delay	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			106
HP:0001507	HP:0001510	Growth delay	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0001507	HP:0004323	Abnormality of body weight	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0001507	HP:0000002	Abnormality of body height	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001507	HP:0001510	Growth delay	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001507	HP:0004323	Abnormality of body weight	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001507	HP:0000002	Abnormality of body height	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001507	HP:0001510	Growth delay	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001507	HP:0004323	Abnormality of body weight	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001507	HP:0004323	Abnormality of body weight	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001507	HP:0004323	Abnormality of body weight	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001507	HP:0004323	Abnormality of body weight	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001507	HP:0001510	Growth delay	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.		645
HP:0001507	HP:0001510	Growth delay	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001507	HP:0004323	Abnormality of body weight	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001507	HP:0001510	Growth delay	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0001507	HP:0000002	Abnormality of body height	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0001507	HP:0001510	Growth delay	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0001507	HP:0004323	Abnormality of body weight	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001507	HP:0001510	Growth delay	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001507	HP:0001510	Growth delay	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001507	HP:0000002	Abnormality of body height	1	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0001507	HP:0001510	Growth delay	1	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0001507	HP:0000002	Abnormality of body height	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001507	HP:0001510	Growth delay	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001507	HP:0004323	Abnormality of body weight	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001507	HP:0000002	Abnormality of body height	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0001507	HP:0001510	Growth delay	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0001507	HP:0000002	Abnormality of body height	1	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease			165
HP:0001507	HP:0001510	Growth delay	1	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease			165
HP:0001507	HP:0000002	Abnormality of body height	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0001507	HP:0001510	Growth delay	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0001507	HP:0001510	Growth delay	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001507	HP:0001510	Growth delay	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001507	HP:0004323	Abnormality of body weight	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001507	HP:0000002	Abnormality of body height	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10			6
HP:0001507	HP:0000002	Abnormality of body height	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0001507	HP:0000002	Abnormality of body height	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0001507	HP:0001510	Growth delay	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001507	HP:0001510	Growth delay	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001507	HP:0004323	Abnormality of body weight	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001507	HP:0004323	Abnormality of body weight	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0001507	HP:0001510	Growth delay	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001507	HP:0004323	Abnormality of body weight	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001507	HP:0004323	Abnormality of body weight	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001507	HP:0000002	Abnormality of body height	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0001507	HP:0000002	Abnormality of body height	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0001507	HP:0000002	Abnormality of body height	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0001507	HP:0001510	Growth delay	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0001507	HP:0001510	Growth delay	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0001507	HP:0004323	Abnormality of body weight	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0001507	HP:0004323	Abnormality of body weight	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0001507	HP:0004323	Abnormality of body weight	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0001507	HP:0001510	Growth delay	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001507	HP:0004323	Abnormality of body weight	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0001507	HP:0004323	Abnormality of body weight	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0001507	HP:0004323	Abnormality of body weight	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0001507	HP:0000002	Abnormality of body height	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001507	HP:0001510	Growth delay	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0001507	HP:0001510	Growth delay	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001510	Growth delay	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0001507	HP:0000002	Abnormality of body height	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0001507	HP:0001510	Growth delay	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0001507	HP:0000002	Abnormality of body height	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0001507	HP:0001510	Growth delay	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0001507	HP:0000002	Abnormality of body height	1	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3			123
HP:0001507	HP:0001510	Growth delay	1	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3			123
HP:0001507	HP:0000002	Abnormality of body height	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0001507	HP:0001510	Growth delay	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0001507	HP:0000002	Abnormality of body height	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0001507	HP:0001510	Growth delay	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0001507	HP:0000002	Abnormality of body height	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0001507	HP:0001510	Growth delay	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0001507	HP:0001510	Growth delay	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0001507	HP:0004323	Abnormality of body weight	1	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0001507	HP:0000002	Abnormality of body height	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0100555	Asymmetric growth	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0001507	HP:0004323	Abnormality of body weight	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0001507	HP:0000002	Abnormality of body height	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001507	HP:0001510	Growth delay	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001507	HP:0000002	Abnormality of body height	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0001507	HP:0001510	Growth delay	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001507	HP:0000002	Abnormality of body height	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001507	HP:0001510	Growth delay	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001507	HP:0000002	Abnormality of body height	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001507	HP:0001510	Growth delay	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001507	HP:0000002	Abnormality of body height	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001507	HP:0001510	Growth delay	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001507	HP:0000002	Abnormality of body height	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0001507	HP:0001510	Growth delay	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001507	HP:0001510	Growth delay	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001507	HP:0000002	Abnormality of body height	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001507	HP:0001510	Growth delay	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0004323	Abnormality of body weight	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001507	HP:0000002	Abnormality of body height	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V			1
HP:0001507	HP:0001510	Growth delay	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V			1
HP:0001507	HP:0000002	Abnormality of body height	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001507	HP:0001510	Growth delay	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001507	HP:0004323	Abnormality of body weight	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001507	HP:0001510	Growth delay	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001507	HP:0004323	Abnormality of body weight	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001507	HP:0000002	Abnormality of body height	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0001507	HP:0001510	Growth delay	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0001507	HP:0000002	Abnormality of body height	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0001507	HP:0001510	Growth delay	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0001507	HP:0004323	Abnormality of body weight	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0001507	HP:0000002	Abnormality of body height	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001507	HP:0001510	Growth delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001507	HP:0000002	Abnormality of body height	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0001510	Growth delay	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0000002	Abnormality of body height	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001507	HP:0001510	Growth delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001507	HP:0000002	Abnormality of body height	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001507	HP:0001510	Growth delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001507	HP:0000002	Abnormality of body height	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001507	HP:0001510	Growth delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001507	HP:0000002	Abnormality of body height	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001507	HP:0001510	Growth delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001507	HP:0000002	Abnormality of body height	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001507	HP:0001510	Growth delay	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001507	HP:0004323	Abnormality of body weight	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0001507	HP:0001510	Growth delay	1	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12	.		6
HP:0001507	HP:0004323	Abnormality of body weight	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0001507	HP:0004323	Abnormality of body weight	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias			5
HP:0001507	HP:0004323	Abnormality of body weight	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0001507	HP:0000002	Abnormality of body height	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0001510	Growth delay	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0004323	Abnormality of body weight	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0001510	Growth delay	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0001507	HP:0000002	Abnormality of body height	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0001507	HP:0000002	Abnormality of body height	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001507	HP:0001510	Growth delay	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001507	HP:0004323	Abnormality of body weight	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001507	HP:0000002	Abnormality of body height	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001507	HP:0001510	Growth delay	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001507	HP:0004323	Abnormality of body weight	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001507	HP:0000002	Abnormality of body height	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001507	HP:0001510	Growth delay	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001507	HP:0004323	Abnormality of body weight	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001507	HP:0000002	Abnormality of body height	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001507	HP:0001510	Growth delay	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001507	HP:0004323	Abnormality of body weight	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001507	HP:0000002	Abnormality of body height	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001507	HP:0001510	Growth delay	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001507	HP:0000002	Abnormality of body height	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0001507	HP:0001510	Growth delay	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0001507	HP:0001510	Growth delay	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0001507	HP:0004323	Abnormality of body weight	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001507	HP:0000002	Abnormality of body height	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0001510	Growth delay	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0001510	Growth delay	1	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0004323	Abnormality of body weight	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0001510	Growth delay	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0001507	HP:0001510	Growth delay	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001507	HP:0000002	Abnormality of body height	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001507	HP:0001510	Growth delay	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0100555	Asymmetric growth	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001507	HP:0004323	Abnormality of body weight	1	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0000002	Abnormality of body height	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001507	HP:0001510	Growth delay	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001507	HP:0004323	Abnormality of body weight	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001507	HP:0000002	Abnormality of body height	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0001510	Growth delay	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0004323	Abnormality of body weight	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0000002	Abnormality of body height	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0001507	HP:0001510	Growth delay	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0001507	HP:0100555	Asymmetric growth	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0001507	HP:0000002	Abnormality of body height	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0001507	HP:0001510	Growth delay	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0001507	HP:0004323	Abnormality of body weight	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001507	HP:0000002	Abnormality of body height	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0001507	HP:0001510	Growth delay	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0001507	HP:0001510	Growth delay	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0001507	HP:0001510	Growth delay	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0001507	HP:0000002	Abnormality of body height	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0001507	HP:0001510	Growth delay	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0001507	HP:0000002	Abnormality of body height	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0001507	HP:0000002	Abnormality of body height	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0001507	HP:0001510	Growth delay	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0001507	HP:0000002	Abnormality of body height	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0001507	HP:0001510	Growth delay	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0001507	HP:0000002	Abnormality of body height	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0001507	HP:0001510	Growth delay	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0001507	HP:0000002	Abnormality of body height	1	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type			32
HP:0001507	HP:0001510	Growth delay	1	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type			32
HP:0001507	HP:0004323	Abnormality of body weight	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0001507	HP:0000002	Abnormality of body height	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0001507	HP:0001510	Growth delay	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0001507	HP:0000002	Abnormality of body height	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0001507	HP:0001510	Growth delay	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0001507	HP:0004323	Abnormality of body weight	1	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency			54
HP:0001507	HP:0000002	Abnormality of body height	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0001507	HP:0001510	Growth delay	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0001507	HP:0004323	Abnormality of body weight	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0001507	HP:0001510	Growth delay	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0001507	HP:0000002	Abnormality of body height	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0001507	HP:0001510	Growth delay	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0001507	HP:0000002	Abnormality of body height	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0001507	HP:0001510	Growth delay	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0001507	HP:0000002	Abnormality of body height	1	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0001507	HP:0001510	Growth delay	1	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0001507	HP:0000002	Abnormality of body height	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0001507	HP:0004323	Abnormality of body weight	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0001507	HP:0000002	Abnormality of body height	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0001507	HP:0004323	Abnormality of body weight	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0001507	HP:0004323	Abnormality of body weight	1	MC3R CL E G H	4159	6931	OMIM:602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9			2
HP:0001507	HP:0000002	Abnormality of body height	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0001507	HP:0004323	Abnormality of body weight	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0001507	HP:0004323	Abnormality of body weight	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0001507	HP:0004323	Abnormality of body weight	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0001507	HP:0004323	Abnormality of body weight	1	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0001507	HP:0004323	Abnormality of body weight	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0001507	HP:0004323	Abnormality of body weight	1	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0001507	HP:0004323	Abnormality of body weight	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0001507	HP:0000002	Abnormality of body height	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001507	HP:0001510	Growth delay	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001507	HP:0004323	Abnormality of body weight	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001507	HP:0000002	Abnormality of body height	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0001510	Growth delay	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0004323	Abnormality of body weight	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0001510	Growth delay	1	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0001507	HP:0004323	Abnormality of body weight	1	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8			2
HP:0001507	HP:0000002	Abnormality of body height	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001510	Growth delay	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0000002	Abnormality of body height	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4			4
HP:0001507	HP:0001510	Growth delay	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4			4
HP:0001507	HP:0004323	Abnormality of body weight	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4			4
HP:0001507	HP:0000002	Abnormality of body height	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0001507	HP:0001510	Growth delay	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		155
HP:0001507	HP:0000002	Abnormality of body height	1	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1			155
HP:0001507	HP:0001510	Growth delay	1	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1			155
HP:0001507	HP:0000002	Abnormality of body height	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001507	HP:0001510	Growth delay	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001507	HP:0001510	Growth delay	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0001507	HP:0004323	Abnormality of body weight	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0001507	HP:0004323	Abnormality of body weight	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0001507	HP:0000002	Abnormality of body height	1	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0001507	HP:0001510	Growth delay	1	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0001507	HP:0001510	Growth delay	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0001507	HP:0004323	Abnormality of body weight	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0001507	HP:0004323	Abnormality of body weight	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0001507	HP:0004323	Abnormality of body weight	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0001507	HP:0000002	Abnormality of body height	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0001507	HP:0001510	Growth delay	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0001507	HP:0000002	Abnormality of body height	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0001507	HP:0001510	Growth delay	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0001507	HP:0004323	Abnormality of body weight	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0001507	HP:0004323	Abnormality of body weight	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0001507	HP:0000002	Abnormality of body height	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0001507	HP:0001510	Growth delay	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0001507	HP:0004323	Abnormality of body weight	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0001507	HP:0004323	Abnormality of body weight	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0001507	HP:0004323	Abnormality of body weight	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001507	HP:0001510	Growth delay	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001507	HP:0004323	Abnormality of body weight	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001507	HP:0000002	Abnormality of body height	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001507	HP:0001510	Growth delay	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001507	HP:0004323	Abnormality of body weight	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001507	HP:0000002	Abnormality of body height	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001507	HP:0000002	Abnormality of body height	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0001507	HP:0004323	Abnormality of body weight	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0001507	HP:0000002	Abnormality of body height	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0001507	HP:0001510	Growth delay	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0001507	HP:0000002	Abnormality of body height	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001507	HP:0001510	Growth delay	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001507	HP:0004323	Abnormality of body weight	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0001507	HP:0004323	Abnormality of body weight	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0001507	HP:0000002	Abnormality of body height	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0001510	Growth delay	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0001510	Growth delay	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001507	HP:0000002	Abnormality of body height	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001510	Growth delay	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0000002	Abnormality of body height	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001510	Growth delay	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001510	Growth delay	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0001510	Growth delay	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001507	HP:0004323	Abnormality of body weight	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0001507	HP:0004323	Abnormality of body weight	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001507	HP:0000002	Abnormality of body height	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001507	HP:0001510	Growth delay	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001507	HP:0001510	Growth delay	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001507	HP:0004323	Abnormality of body weight	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0001507	HP:0000002	Abnormality of body height	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0001507	HP:0004323	Abnormality of body weight	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0001507	HP:0000002	Abnormality of body height	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001507	HP:0001510	Growth delay	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0001507	HP:0004323	Abnormality of body weight	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0001507	HP:0000002	Abnormality of body height	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001507	HP:0001510	Growth delay	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001507	HP:0000002	Abnormality of body height	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0001507	HP:0001510	Growth delay	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0001507	HP:0000002	Abnormality of body height	1	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0001507	HP:0001510	Growth delay	1	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0001507	HP:0000002	Abnormality of body height	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0001510	Growth delay	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0000002	Abnormality of body height	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001510	Growth delay	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001510	Growth delay	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001507	HP:0000002	Abnormality of body height	1	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001507	HP:0000002	Abnormality of body height	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0001507	HP:0001510	Growth delay	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0001507	HP:0001510	Growth delay	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional		17
HP:0001507	HP:0000002	Abnormality of body height	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0001507	HP:0001510	Growth delay	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		5
HP:0001507	HP:0000002	Abnormality of body height	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001507	HP:0001510	Growth delay	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001507	HP:0004323	Abnormality of body weight	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001507	HP:0004323	Abnormality of body weight	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001507	HP:0000002	Abnormality of body height	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0001507	HP:0001510	Growth delay	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0001507	HP:0000002	Abnormality of body height	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0001510	Growth delay	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0004323	Abnormality of body weight	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0004323	Abnormality of body weight	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001507	HP:0001510	Growth delay	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001507	HP:0000002	Abnormality of body height	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001507	HP:0001510	Growth delay	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001507	HP:0001510	Growth delay	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0001507	HP:0004323	Abnormality of body weight	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001507	HP:0000002	Abnormality of body height	1	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0001507	HP:0001510	Growth delay	1	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0001507	HP:0000002	Abnormality of body height	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0001507	HP:0001510	Growth delay	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0001507	HP:0000002	Abnormality of body height	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0001507	HP:0001510	Growth delay	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0001507	HP:0004323	Abnormality of body weight	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0001507	HP:0004323	Abnormality of body weight	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0001507	HP:0000002	Abnormality of body height	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001507	HP:0001510	Growth delay	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001507	HP:0004323	Abnormality of body weight	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001507	HP:0000002	Abnormality of body height	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0001510	Growth delay	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001510	Growth delay	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0001507	HP:0001510	Growth delay	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0001507	HP:0004323	Abnormality of body weight	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0001507	HP:0004323	Abnormality of body weight	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0001507	HP:0001510	Growth delay	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001507	HP:0004323	Abnormality of body weight	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0001507	HP:0004323	Abnormality of body weight	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0001507	HP:0004323	Abnormality of body weight	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0001507	HP:0000002	Abnormality of body height	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001510	Growth delay	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0001510	Growth delay	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001507	HP:0001510	Growth delay	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001507	HP:0004323	Abnormality of body weight	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0001507	HP:0004323	Abnormality of body weight	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0001507	HP:0001510	Growth delay	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0001507	HP:0004323	Abnormality of body weight	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001507	HP:0004323	Abnormality of body weight	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001507	HP:0004323	Abnormality of body weight	1	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0001507	HP:0001510	Growth delay	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0001507	HP:0001510	Growth delay	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0001507	HP:0000002	Abnormality of body height	1	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia			52
HP:0001507	HP:0001510	Growth delay	1	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia			52
HP:0001507	HP:0000002	Abnormality of body height	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0000002	Abnormality of body height	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0001510	Growth delay	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0001510	Growth delay	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0000002	Abnormality of body height	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0000002	Abnormality of body height	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0001510	Growth delay	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0001510	Growth delay	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0000002	Abnormality of body height	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001507	HP:0001510	Growth delay	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001507	HP:0030853	Heterotaxy	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001507	HP:0000002	Abnormality of body height	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0100555	Asymmetric growth	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia			31
HP:0001507	HP:0001510	Growth delay	1	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia			31
HP:0001507	HP:0004323	Abnormality of body weight	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001507	HP:0001510	Growth delay	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040281 - Very frequent
HP:0001507	HP:0100555	Asymmetric growth	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome			17
HP:0001507	HP:0001510	Growth delay	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0001507	HP:0001510	Growth delay	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0001507	HP:0004323	Abnormality of body weight	1	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0000002	Abnormality of body height	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0001507	HP:0001510	Growth delay	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0001507	HP:0004323	Abnormality of body weight	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0001507	HP:0004323	Abnormality of body weight	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0001507	HP:0004323	Abnormality of body weight	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0001507	HP:0000002	Abnormality of body height	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0001507	HP:0001510	Growth delay	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0001507	HP:0004323	Abnormality of body weight	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0001507	HP:0004323	Abnormality of body weight	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0001507	HP:0004323	Abnormality of body weight	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0001507	HP:0001510	Growth delay	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001507	HP:0001510	Growth delay	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0001507	HP:0000002	Abnormality of body height	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0001507	HP:0001510	Growth delay	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0001507	HP:0004323	Abnormality of body weight	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0001507	HP:0000002	Abnormality of body height	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0001507	HP:0004323	Abnormality of body weight	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0001507	HP:0004323	Abnormality of body weight	1	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18			1
HP:0001507	HP:0000002	Abnormality of body height	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001507	HP:0001510	Growth delay	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001507	HP:0001510	Growth delay	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001507	HP:0000002	Abnormality of body height	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0001507	HP:0001510	Growth delay	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0001507	HP:0004323	Abnormality of body weight	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0001507	HP:0004323	Abnormality of body weight	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001507	HP:0004323	Abnormality of body weight	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001507	HP:0004323	Abnormality of body weight	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001507	HP:0004323	Abnormality of body weight	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0001507	HP:0000002	Abnormality of body height	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0001507	HP:0001510	Growth delay	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0001507	HP:0001510	Growth delay	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0001507	HP:0001510	Growth delay	1	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7			25
HP:0001507	HP:0000002	Abnormality of body height	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001507	HP:0001510	Growth delay	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001507	HP:0001510	Growth delay	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001507	HP:0004323	Abnormality of body weight	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001507	HP:0004323	Abnormality of body weight	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0001507	HP:0004323	Abnormality of body weight	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0004323	Abnormality of body weight	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0001507	HP:0004323	Abnormality of body weight	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0001507	HP:0000002	Abnormality of body height	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0001507	HP:0001510	Growth delay	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0001507	HP:0000002	Abnormality of body height	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001507	HP:0001510	Growth delay	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001507	HP:0000002	Abnormality of body height	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0001507	HP:0001510	Growth delay	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001507	HP:0004323	Abnormality of body weight	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001507	HP:0000002	Abnormality of body height	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001507	HP:0001510	Growth delay	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001507	HP:0004323	Abnormality of body weight	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001507	HP:0004323	Abnormality of body weight	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001507	HP:0004323	Abnormality of body weight	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0001507	HP:0001510	Growth delay	1	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0001507	HP:0000002	Abnormality of body height	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0001507	HP:0001510	Growth delay	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0001507	HP:0000002	Abnormality of body height	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001507	HP:0004323	Abnormality of body weight	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001507	HP:0004323	Abnormality of body weight	1	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0001507	HP:0004323	Abnormality of body weight	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0001507	HP:0004323	Abnormality of body weight	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0001507	HP:0000002	Abnormality of body height	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0001510	Growth delay	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0004323	Abnormality of body weight	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0004323	Abnormality of body weight	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0001507	HP:0004323	Abnormality of body weight	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001507	HP:0004323	Abnormality of body weight	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0001507	HP:0004323	Abnormality of body weight	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0001507	HP:0001510	Growth delay	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001507	HP:0004323	Abnormality of body weight	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001507	HP:0004323	Abnormality of body weight	1	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1			81
HP:0001507	HP:0004323	Abnormality of body weight	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001507	HP:0000002	Abnormality of body height	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001507	HP:0001510	Growth delay	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001507	HP:0000002	Abnormality of body height	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0001507	HP:0001510	Growth delay	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0001507	HP:0001510	Growth delay	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001507	HP:0001510	Growth delay	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001507	HP:0004323	Abnormality of body weight	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001507	HP:0001510	Growth delay	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional		150
HP:0001507	HP:0000002	Abnormality of body height	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0000002	Abnormality of body height	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0001507	HP:0001510	Growth delay	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0001510	Growth delay	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0001507	HP:0004323	Abnormality of body weight	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0000002	Abnormality of body height	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001507	HP:0001510	Growth delay	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001507	HP:0004323	Abnormality of body weight	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001507	HP:0000002	Abnormality of body height	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0001507	HP:0001510	Growth delay	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001507	HP:0004323	Abnormality of body weight	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001507	HP:0000002	Abnormality of body height	1	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0001507	HP:0001510	Growth delay	1	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3			166
HP:0001507	HP:0000002	Abnormality of body height	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0001507	HP:0001510	Growth delay	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0001507	HP:0004323	Abnormality of body weight	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0001507	HP:0000002	Abnormality of body height	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0001507	HP:0001510	Growth delay	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A			166
HP:0001507	HP:0000002	Abnormality of body height	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001507	HP:0001510	Growth delay	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0001507	HP:0004323	Abnormality of body weight	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001507	HP:0000002	Abnormality of body height	1	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0001507	HP:0001510	Growth delay	1	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome			166
HP:0001507	HP:0000002	Abnormality of body height	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001507	HP:0001510	Growth delay	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001507	HP:0004323	Abnormality of body weight	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001507	HP:0004323	Abnormality of body weight	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001507	HP:0000002	Abnormality of body height	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001507	HP:0001510	Growth delay	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001507	HP:0000002	Abnormality of body height	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0001507	HP:0001510	Growth delay	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0001507	HP:0000002	Abnormality of body height	1	MYH8 CL E G H	4626	7578	ORPHA:3377	Trismus-pseudocamptodactyly syndrome			93
HP:0001507	HP:0001510	Growth delay	1	MYH8 CL E G H	4626	7578	ORPHA:3377	Trismus-pseudocamptodactyly syndrome			93
HP:0001507	HP:0000002	Abnormality of body height	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001507	HP:0001510	Growth delay	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001507	HP:0004323	Abnormality of body weight	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001507	HP:0004323	Abnormality of body weight	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001507	HP:0000002	Abnormality of body height	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0001507	HP:0000002	Abnormality of body height	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0001507	HP:0001510	Growth delay	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0001507	HP:0001510	Growth delay	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004323	Abnormality of body weight	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001507	HP:0000002	Abnormality of body height	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0001507	HP:0001510	Growth delay	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0001507	HP:0000002	Abnormality of body height	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0001507	HP:0001510	Growth delay	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0001507	HP:0000002	Abnormality of body height	1	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0001507	HP:0001510	Growth delay	1	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0001507	HP:0004323	Abnormality of body weight	1	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0001507	HP:0001510	Growth delay	1	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.		192
HP:0001507	HP:0001510	Growth delay	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001507	HP:0004323	Abnormality of body weight	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001507	HP:0001510	Growth delay	1	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0001507	HP:0000002	Abnormality of body height	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001507	HP:0004323	Abnormality of body weight	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001507	HP:0001510	Growth delay	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001507	HP:0000002	Abnormality of body height	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001507	HP:0001510	Growth delay	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001507	HP:0000002	Abnormality of body height	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001507	HP:0001510	Growth delay	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0001507	HP:0000002	Abnormality of body height	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0001507	HP:0001510	Growth delay	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0001507	HP:0001510	Growth delay	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0001507	HP:0000002	Abnormality of body height	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001507	HP:0001510	Growth delay	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001507	HP:0001510	Growth delay	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0001507	HP:0004323	Abnormality of body weight	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0001507	HP:0004323	Abnormality of body weight	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001507	HP:0004323	Abnormality of body weight	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0001507	HP:0004323	Abnormality of body weight	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0001507	HP:0004323	Abnormality of body weight	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0001507	HP:0004323	Abnormality of body weight	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0001507	HP:0000002	Abnormality of body height	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001507	HP:0001510	Growth delay	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0001507	HP:0004323	Abnormality of body weight	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001507	HP:0001510	Growth delay	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0001507	HP:0000002	Abnormality of body height	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0001507	HP:0001510	Growth delay	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0001507	HP:0004323	Abnormality of body weight	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0001507	HP:0000002	Abnormality of body height	1	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0001507	HP:0001510	Growth delay	1	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome			48
HP:0001507	HP:0000002	Abnormality of body height	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0001507	HP:0001510	Growth delay	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0001507	HP:0000002	Abnormality of body height	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0001507	HP:0001510	Growth delay	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0001507	HP:0000002	Abnormality of body height	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001507	HP:0000002	Abnormality of body height	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0001507	HP:0001510	Growth delay	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001507	HP:0001510	Growth delay	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0001507	HP:0004323	Abnormality of body weight	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001507	HP:0000002	Abnormality of body height	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0001507	HP:0001510	Growth delay	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0001507	HP:0000002	Abnormality of body height	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0001507	HP:0001510	Growth delay	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0000002	Abnormality of body height	1	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive			1
HP:0001507	HP:0001510	Growth delay	1	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive			1
HP:0001507	HP:0000002	Abnormality of body height	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001507	HP:0001510	Growth delay	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0001507	HP:0000002	Abnormality of body height	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001507	HP:0001510	Growth delay	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001507	HP:0000002	Abnormality of body height	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001507	HP:0001510	Growth delay	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001507	HP:0004323	Abnormality of body weight	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001507	HP:0001510	Growth delay	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0000002	Abnormality of body height	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001510	Growth delay	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001510	Growth delay	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0001507	HP:0004323	Abnormality of body weight	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001510	Growth delay	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0001507	HP:0000002	Abnormality of body height	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0001507	HP:0001510	Growth delay	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.		96
HP:0001507	HP:0001510	Growth delay	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0001507	HP:0000002	Abnormality of body height	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0001507	HP:0001510	Growth delay	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0001507	HP:0000002	Abnormality of body height	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001507	HP:0001510	Growth delay	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001507	HP:0004323	Abnormality of body weight	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001507	HP:0000002	Abnormality of body height	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001507	HP:0001510	Growth delay	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001507	HP:0004323	Abnormality of body weight	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001507	HP:0000002	Abnormality of body height	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001507	HP:0001510	Growth delay	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001507	HP:0004323	Abnormality of body weight	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001507	HP:0000002	Abnormality of body height	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001507	HP:0001510	Growth delay	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001507	HP:0004323	Abnormality of body weight	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001507	HP:0001510	Growth delay	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0001510	Growth delay	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0001507	HP:0004323	Abnormality of body weight	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0001507	HP:0004323	Abnormality of body weight	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0001507	HP:0000002	Abnormality of body height	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0001507	HP:0001510	Growth delay	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0001507	HP:0004323	Abnormality of body weight	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0001507	HP:0001510	Growth delay	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001507	HP:0001510	Growth delay	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0001507	HP:0001510	Growth delay	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001507	HP:0001510	Growth delay	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001507	HP:0000002	Abnormality of body height	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0001510	Growth delay	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0001510	Growth delay	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0001510	Growth delay	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001507	HP:0001510	Growth delay	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0001510	Growth delay	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0001507	HP:0001510	Growth delay	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001507	HP:0001510	Growth delay	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0001507	HP:0001510	Growth delay	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001507	HP:0001510	Growth delay	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0001507	HP:0001510	Growth delay	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001507	HP:0001510	Growth delay	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001507	HP:0001510	Growth delay	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		39
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0001507	HP:0001510	Growth delay	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001510	Growth delay	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0001507	HP:0001510	Growth delay	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001510	Growth delay	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001507	HP:0001510	Growth delay	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0001507	HP:0000002	Abnormality of body height	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001507	HP:0001510	Growth delay	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001507	HP:0001510	Growth delay	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001507	HP:0001510	Growth delay	1	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0001507	HP:0001510	Growth delay	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001507	HP:0001510	Growth delay	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0001507	HP:0001510	Growth delay	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0001507	HP:0001510	Growth delay	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001507	HP:0001510	Growth delay	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0001507	HP:0001510	Growth delay	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0001507	HP:0001510	Growth delay	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001507	HP:0001510	Growth delay	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0001510	Growth delay	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001507	HP:0001510	Growth delay	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001507	HP:0001510	Growth delay	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001507	HP:0001510	Growth delay	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001507	HP:0001510	Growth delay	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001507	HP:0001510	Growth delay	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0004323	Abnormality of body weight	1	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0001507	HP:0000002	Abnormality of body height	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001507	HP:0004323	Abnormality of body weight	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001507	HP:0000002	Abnormality of body height	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001507	HP:0004323	Abnormality of body weight	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001507	HP:0000002	Abnormality of body height	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001507	HP:0004323	Abnormality of body weight	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001507	HP:0000002	Abnormality of body height	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001507	HP:0000002	Abnormality of body height	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0001507	HP:0001510	Growth delay	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0001507	HP:0004323	Abnormality of body weight	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0001507	HP:0001510	Growth delay	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001507	HP:0000002	Abnormality of body height	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0001510	Growth delay	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0030853	Heterotaxy	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001507	HP:0001510	Growth delay	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001507	HP:0000002	Abnormality of body height	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001507	HP:0001510	Growth delay	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001507	HP:0000002	Abnormality of body height	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0001507	HP:0001510	Growth delay	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0001507	HP:0004323	Abnormality of body weight	1	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			32
HP:0001507	HP:0001510	Growth delay	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0001507	HP:0004323	Abnormality of body weight	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0001507	HP:0004323	Abnormality of body weight	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0001507	HP:0001510	Growth delay	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001507	HP:0004323	Abnormality of body weight	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001507	HP:0000002	Abnormality of body height	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0001507	HP:0001510	Growth delay	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0001507	HP:0000002	Abnormality of body height	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0001507	HP:0001510	Growth delay	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0001507	HP:0004323	Abnormality of body weight	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0001507	HP:0000002	Abnormality of body height	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001507	HP:0001510	Growth delay	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001507	HP:0000002	Abnormality of body height	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0001507	HP:0001510	Growth delay	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0001507	HP:0000002	Abnormality of body height	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001507	HP:0000002	Abnormality of body height	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0001507	HP:0001510	Growth delay	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001507	HP:0001510	Growth delay	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0001507	HP:0000002	Abnormality of body height	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0001507	HP:0001510	Growth delay	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0001507	HP:0004323	Abnormality of body weight	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0001507	HP:0004323	Abnormality of body weight	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001507	HP:0000002	Abnormality of body height	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001507	HP:0001510	Growth delay	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0001507	HP:0004323	Abnormality of body weight	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001507	HP:0001510	Growth delay	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0001507	HP:0000002	Abnormality of body height	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0001507	HP:0000002	Abnormality of body height	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001507	HP:0001510	Growth delay	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001507	HP:0004323	Abnormality of body weight	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0001507	HP:0004323	Abnormality of body weight	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001507	HP:0000002	Abnormality of body height	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0001507	HP:0004323	Abnormality of body weight	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0001507	HP:0004323	Abnormality of body weight	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0001507	HP:0004323	Abnormality of body weight	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0001507	HP:0004323	Abnormality of body weight	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0001507	HP:0004323	Abnormality of body weight	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0001507	HP:0001510	Growth delay	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent		20
HP:0001507	HP:0004323	Abnormality of body weight	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0001507	HP:0004323	Abnormality of body weight	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001507	HP:0000002	Abnormality of body height	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0001507	HP:0001510	Growth delay	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0001507	HP:0001510	Growth delay	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.		27
HP:0001507	HP:0000002	Abnormality of body height	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0001507	HP:0001510	Growth delay	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0001507	HP:0004323	Abnormality of body weight	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0001507	HP:0000002	Abnormality of body height	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0001507	HP:0001510	Growth delay	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0001507	HP:0000002	Abnormality of body height	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0001507	HP:0001510	Growth delay	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0001507	HP:0004323	Abnormality of body weight	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0001507	HP:0000002	Abnormality of body height	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0001507	HP:0001510	Growth delay	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0001507	HP:0000002	Abnormality of body height	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0001510	Growth delay	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0004323	Abnormality of body weight	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0000002	Abnormality of body height	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001507	HP:0001510	Growth delay	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001507	HP:0000002	Abnormality of body height	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0004323	Abnormality of body weight	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0000002	Abnormality of body height	1	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0001507	HP:0001510	Growth delay	1	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		51
HP:0001507	HP:0000002	Abnormality of body height	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001507	HP:0001510	Growth delay	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0001507	HP:0004323	Abnormality of body weight	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001507	HP:0000002	Abnormality of body height	1	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0001507	HP:0001510	Growth delay	1	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		90
HP:0001507	HP:0001510	Growth delay	1	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0001507	HP:0001510	Growth delay	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0001507	HP:0000002	Abnormality of body height	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0001507	HP:0001510	Growth delay	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		90
HP:0001507	HP:0001510	Growth delay	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0001507	HP:0001510	Growth delay	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001507	HP:0000002	Abnormality of body height	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0001510	Growth delay	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0004323	Abnormality of body weight	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0000002	Abnormality of body height	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001507	HP:0001510	Growth delay	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001507	HP:0004323	Abnormality of body weight	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001507	HP:0001510	Growth delay	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001507	HP:0004323	Abnormality of body weight	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001507	HP:0001510	Growth delay	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0001507	HP:0001510	Growth delay	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0001507	HP:0000002	Abnormality of body height	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0001507	HP:0000002	Abnormality of body height	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0001507	HP:0001510	Growth delay	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0001507	HP:0001510	Growth delay	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0001507	HP:0000002	Abnormality of body height	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0001507	HP:0001510	Growth delay	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0001507	HP:0000002	Abnormality of body height	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0001507	HP:0004323	Abnormality of body weight	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0001507	HP:0004323	Abnormality of body weight	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0001507	HP:0001510	Growth delay	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		187
HP:0001507	HP:0004323	Abnormality of body weight	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			187
HP:0001507	HP:0004323	Abnormality of body weight	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001507	HP:0000002	Abnormality of body height	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0001507	HP:0001510	Growth delay	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0004323	Abnormality of body weight	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0001507	HP:0001510	Growth delay	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0030853	Heterotaxy	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0000002	Abnormality of body height	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0001507	HP:0001510	Growth delay	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0001507	HP:0004323	Abnormality of body weight	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0001507	HP:0000002	Abnormality of body height	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001507	HP:0001510	Growth delay	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001507	HP:0000002	Abnormality of body height	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0001507	HP:0001510	Growth delay	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0004323	Abnormality of body weight	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0001507	HP:0000002	Abnormality of body height	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0001507	HP:0001510	Growth delay	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0004323	Abnormality of body weight	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0001507	HP:0000002	Abnormality of body height	1	NOG CL E G H	9241	7866	ORPHA:1412	Tarsal-carpal coalition syndrome			22
HP:0001507	HP:0001510	Growth delay	1	NOG CL E G H	9241	7866	ORPHA:1412	Tarsal-carpal coalition syndrome			22
HP:0001507	HP:0000002	Abnormality of body height	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001507	HP:0001510	Growth delay	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001507	HP:0004323	Abnormality of body weight	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001507	HP:0000002	Abnormality of body height	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0001510	Growth delay	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0004323	Abnormality of body weight	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0000002	Abnormality of body height	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0001507	HP:0001510	Growth delay	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0001507	HP:0004323	Abnormality of body weight	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0001507	HP:0001510	Growth delay	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0001507	HP:0004323	Abnormality of body weight	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001507	HP:0000002	Abnormality of body height	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0001507	HP:0000002	Abnormality of body height	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001507	HP:0001510	Growth delay	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001507	HP:0001510	Growth delay	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0001507	HP:0004323	Abnormality of body weight	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0001507	HP:0004323	Abnormality of body weight	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001507	HP:0004323	Abnormality of body weight	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001507	HP:0000002	Abnormality of body height	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0001507	HP:0001510	Growth delay	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0001507	HP:0000002	Abnormality of body height	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0001510	Growth delay	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0001507	HP:0001510	Growth delay	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0001507	HP:0004323	Abnormality of body weight	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0001507	HP:0001510	Growth delay	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.		85
HP:0001507	HP:0000002	Abnormality of body height	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0001507	HP:0001510	Growth delay	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0001507	HP:0000002	Abnormality of body height	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0001507	HP:0001510	Growth delay	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0001507	HP:0001510	Growth delay	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.		220
HP:0001507	HP:0000002	Abnormality of body height	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0001507	HP:0001510	Growth delay	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0001507	HP:0001510	Growth delay	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.		241
HP:0001507	HP:0004323	Abnormality of body weight	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0001507	HP:0004323	Abnormality of body weight	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001507	HP:0000002	Abnormality of body height	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0001507	HP:0001510	Growth delay	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0001507	HP:0000002	Abnormality of body height	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0000002	Abnormality of body height	1	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0001510	Growth delay	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0001510	Growth delay	1	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0000002	Abnormality of body height	1	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type			53
HP:0001507	HP:0000002	Abnormality of body height	1	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities			53
HP:0001507	HP:0001510	Growth delay	1	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities			53
HP:0001507	HP:0000002	Abnormality of body height	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001507	HP:0001510	Growth delay	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0001507	HP:0001510	Growth delay	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital			48
HP:0001507	HP:0004323	Abnormality of body weight	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital			48
HP:0001507	HP:0004323	Abnormality of body weight	1	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0001507	HP:0004323	Abnormality of body weight	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001507	HP:0004323	Abnormality of body weight	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001507	HP:0004323	Abnormality of body weight	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0001507	HP:0000002	Abnormality of body height	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0001507	HP:0001510	Growth delay	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0001507	HP:0004323	Abnormality of body weight	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001507	HP:0004323	Abnormality of body weight	1	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant			109
HP:0001507	HP:0000002	Abnormality of body height	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0001507	HP:0001510	Growth delay	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0001507	HP:0001510	Growth delay	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0001507	HP:0001510	Growth delay	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional		102
HP:0001507	HP:0100555	Asymmetric growth	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0001507	HP:0000002	Abnormality of body height	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001507	HP:0001510	Growth delay	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001507	HP:0000002	Abnormality of body height	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001507	HP:0001510	Growth delay	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001507	HP:0000002	Abnormality of body height	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0001507	HP:0001510	Growth delay	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0001507	HP:0100555	Asymmetric growth	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0001507	HP:0000002	Abnormality of body height	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0001510	Growth delay	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0004323	Abnormality of body weight	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0004323	Abnormality of body weight	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0001507	HP:0000002	Abnormality of body height	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0001507	HP:0001510	Growth delay	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0001507	HP:0004323	Abnormality of body weight	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0001507	HP:0000002	Abnormality of body height	1	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome			544
HP:0001507	HP:0001510	Growth delay	1	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040281 - Very frequent		544
HP:0001507	HP:0000002	Abnormality of body height	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0001507	HP:0000002	Abnormality of body height	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001507	HP:0004323	Abnormality of body weight	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001507	HP:0000002	Abnormality of body height	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0001507	HP:0000002	Abnormality of body height	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0001510	Growth delay	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0004323	Abnormality of body weight	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0000002	Abnormality of body height	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0000002	Abnormality of body height	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001510	Growth delay	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001510	Growth delay	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0004323	Abnormality of body weight	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0004323	Abnormality of body weight	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0030853	Heterotaxy	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0000002	Abnormality of body height	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0001507	HP:0001510	Growth delay	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0001507	HP:0004323	Abnormality of body weight	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001507	HP:0000002	Abnormality of body height	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0001507	HP:0001510	Growth delay	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001507	HP:0001510	Growth delay	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001507	HP:0004323	Abnormality of body weight	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0001507	HP:0000002	Abnormality of body height	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0001507	HP:0001510	Growth delay	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0004323	Abnormality of body weight	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0004323	Abnormality of body weight	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0001507	HP:0000002	Abnormality of body height	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0001507	HP:0001510	Growth delay	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0001507	HP:0000002	Abnormality of body height	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0001507	HP:0001510	Growth delay	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0001507	HP:0004323	Abnormality of body weight	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0001507	HP:0004323	Abnormality of body weight	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0001507	HP:0001510	Growth delay	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0001510	Growth delay	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0001507	HP:0000002	Abnormality of body height	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001507	HP:0001510	Growth delay	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001507	HP:0004323	Abnormality of body weight	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001507	HP:0004323	Abnormality of body weight	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0001507	HP:0001510	Growth delay	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001507	HP:0004323	Abnormality of body weight	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001507	HP:0001510	Growth delay	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0001507	HP:0004323	Abnormality of body weight	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001507	HP:0004323	Abnormality of body weight	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001507	HP:0000002	Abnormality of body height	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0001507	HP:0001510	Growth delay	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0001507	HP:0000002	Abnormality of body height	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0001507	HP:0001510	Growth delay	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001507	HP:0001510	Growth delay	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001507	HP:0000002	Abnormality of body height	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0001507	HP:0001510	Growth delay	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0001507	HP:0001510	Growth delay	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001507	HP:0004323	Abnormality of body weight	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001507	HP:0004323	Abnormality of body weight	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0001507	HP:0004323	Abnormality of body weight	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0001507	HP:0000002	Abnormality of body height	1	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0001507	HP:0001510	Growth delay	1	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0001507	HP:0000002	Abnormality of body height	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001507	HP:0001510	Growth delay	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001507	HP:0001510	Growth delay	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001507	HP:0001510	Growth delay	1	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0001507	HP:0000002	Abnormality of body height	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0000002	Abnormality of body height	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001507	HP:0001510	Growth delay	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0001507	HP:0001510	Growth delay	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0001507	HP:0000002	Abnormality of body height	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0001510	Growth delay	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0004323	Abnormality of body weight	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0000002	Abnormality of body height	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0001507	HP:0001510	Growth delay	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0001507	HP:0004323	Abnormality of body weight	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0001507	HP:0000002	Abnormality of body height	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001507	HP:0001510	Growth delay	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001507	HP:0004323	Abnormality of body weight	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001507	HP:0000002	Abnormality of body height	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001507	HP:0001510	Growth delay	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001507	HP:0004323	Abnormality of body weight	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001507	HP:0000002	Abnormality of body height	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001507	HP:0001510	Growth delay	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001507	HP:0004323	Abnormality of body weight	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001507	HP:0004323	Abnormality of body weight	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001507	HP:0000002	Abnormality of body height	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0001507	HP:0001510	Growth delay	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0001507	HP:0000002	Abnormality of body height	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0001507	HP:0001510	Growth delay	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0001507	HP:0004323	Abnormality of body weight	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0001507	HP:0000002	Abnormality of body height	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0001507	HP:0001510	Growth delay	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0001507	HP:0004323	Abnormality of body weight	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0001507	HP:0004323	Abnormality of body weight	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001507	HP:0004323	Abnormality of body weight	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001507	HP:0001510	Growth delay	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0001507	HP:0000002	Abnormality of body height	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0001507	HP:0001510	Growth delay	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0001507	HP:0000002	Abnormality of body height	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0001507	HP:0001510	Growth delay	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0001507	HP:0004323	Abnormality of body weight	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0001507	HP:0004323	Abnormality of body weight	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0001507	HP:0004323	Abnormality of body weight	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001507	HP:0000002	Abnormality of body height	1	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria
HP:0001507	HP:0001510	Growth delay	1	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria
HP:0001507	HP:0004323	Abnormality of body weight	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0001507	HP:0004323	Abnormality of body weight	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0001507	HP:0000002	Abnormality of body height	1	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0001507	HP:0001510	Growth delay	1	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0001507	HP:0000002	Abnormality of body height	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0001507	HP:0001510	Growth delay	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0001507	HP:0004323	Abnormality of body weight	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0001507	HP:0000002	Abnormality of body height	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001507	HP:0001510	Growth delay	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001507	HP:0004323	Abnormality of body weight	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001507	HP:0000002	Abnormality of body height	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0001507	HP:0001510	Growth delay	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0004323	Abnormality of body weight	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0001507	HP:0000002	Abnormality of body height	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0001507	HP:0001510	Growth delay	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0001507	HP:0004323	Abnormality of body weight	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0001507	HP:0000002	Abnormality of body height	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0001507	HP:0001510	Growth delay	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0001507	HP:0004323	Abnormality of body weight	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0001507	HP:0000002	Abnormality of body height	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0001507	HP:0001510	Growth delay	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0001507	HP:0004323	Abnormality of body weight	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0001507	HP:0000002	Abnormality of body height	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001510	Growth delay	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001507	HP:0001510	Growth delay	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001507	HP:0004323	Abnormality of body weight	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001507	HP:0000002	Abnormality of body height	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001507	HP:0001510	Growth delay	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0001507	HP:0004323	Abnormality of body weight	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0001507	HP:0000002	Abnormality of body height	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0001510	Growth delay	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0004323	Abnormality of body weight	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0000002	Abnormality of body height	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001507	HP:0001510	Growth delay	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001507	HP:0001510	Growth delay	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001507	HP:0004323	Abnormality of body weight	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001507	HP:0004323	Abnormality of body weight	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0001507	HP:0000002	Abnormality of body height	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0001507	HP:0001510	Growth delay	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		41
HP:0001507	HP:0000002	Abnormality of body height	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5			41
HP:0001507	HP:0001510	Growth delay	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5			41
HP:0001507	HP:0000002	Abnormality of body height	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0001507	HP:0001510	Growth delay	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0001507	HP:0000002	Abnormality of body height	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0001507	HP:0001510	Growth delay	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0001507	HP:0004323	Abnormality of body weight	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0001507	HP:0004323	Abnormality of body weight	1	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0001507	HP:0000002	Abnormality of body height	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0001507	HP:0001510	Growth delay	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0001507	HP:0004323	Abnormality of body weight	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001507	HP:0000002	Abnormality of body height	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0001507	HP:0001510	Growth delay	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0001507	HP:0001510	Growth delay	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0001507	HP:0000002	Abnormality of body height	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001507	HP:0001510	Growth delay	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001507	HP:0004323	Abnormality of body weight	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001507	HP:0004323	Abnormality of body weight	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001507	HP:0000002	Abnormality of body height	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0001507	HP:0001510	Growth delay	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent		231
HP:0001507	HP:0001510	Growth delay	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent		641
HP:0001507	HP:0001510	Growth delay	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001507	HP:0000002	Abnormality of body height	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001507	HP:0001510	Growth delay	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001507	HP:0000002	Abnormality of body height	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0001507	HP:0001510	Growth delay	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0001507	HP:0004323	Abnormality of body weight	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0001507	HP:0000002	Abnormality of body height	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001507	HP:0001510	Growth delay	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001507	HP:0004323	Abnormality of body weight	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001507	HP:0001510	Growth delay	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0001507	HP:0004323	Abnormality of body weight	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0001507	HP:0000002	Abnormality of body height	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0001507	HP:0001510	Growth delay	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0001507	HP:0004323	Abnormality of body weight	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0001507	HP:0004323	Abnormality of body weight	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0001507	HP:0000002	Abnormality of body height	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0001507	HP:0001510	Growth delay	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0001507	HP:0000002	Abnormality of body height	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0001507	HP:0001510	Growth delay	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes			20
HP:0001507	HP:0000002	Abnormality of body height	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0001507	HP:0001510	Growth delay	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0001507	HP:0001510	Growth delay	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0001507	HP:0004323	Abnormality of body weight	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0001507	HP:0000002	Abnormality of body height	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0001507	HP:0001510	Growth delay	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0001507	HP:0004323	Abnormality of body weight	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0001507	HP:0000002	Abnormality of body height	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001507	HP:0001510	Growth delay	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001507	HP:0004323	Abnormality of body weight	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001507	HP:0000002	Abnormality of body height	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0001507	HP:0001510	Growth delay	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0001507	HP:0001510	Growth delay	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0001507	HP:0000002	Abnormality of body height	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0001510	Growth delay	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0004323	Abnormality of body weight	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0004323	Abnormality of body weight	1	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent			55
HP:0001507	HP:0001510	Growth delay	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0001507	HP:0004323	Abnormality of body weight	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0001507	HP:0001510	Growth delay	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0001507	HP:0001510	Growth delay	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional		194
HP:0001507	HP:0000002	Abnormality of body height	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0001507	HP:0001510	Growth delay	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0001507	HP:0004323	Abnormality of body weight	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0001507	HP:0004323	Abnormality of body weight	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0001507	HP:0000002	Abnormality of body height	1	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0001507	HP:0001510	Growth delay	1	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		63
HP:0001507	HP:0001510	Growth delay	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0001507	HP:0000002	Abnormality of body height	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0001507	HP:0001510	Growth delay	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		63
HP:0001507	HP:0000002	Abnormality of body height	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0001507	HP:0001510	Growth delay	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		63
HP:0001507	HP:0001510	Growth delay	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0001507	HP:0000002	Abnormality of body height	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0001510	Growth delay	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0000002	Abnormality of body height	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001507	HP:0001510	Growth delay	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001507	HP:0004323	Abnormality of body weight	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001507	HP:0000002	Abnormality of body height	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001507	HP:0001510	Growth delay	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001507	HP:0004323	Abnormality of body weight	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001507	HP:0001510	Growth delay	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0001507	HP:0001510	Growth delay	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0001507	HP:0001510	Growth delay	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0001507	HP:0000002	Abnormality of body height	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0001507	HP:0001510	Growth delay	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0001507	HP:0000002	Abnormality of body height	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0001507	HP:0001510	Growth delay	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001507	HP:0001510	Growth delay	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001507	HP:0004323	Abnormality of body weight	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001507	HP:0000002	Abnormality of body height	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001507	HP:0001510	Growth delay	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001507	HP:0004323	Abnormality of body weight	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001507	HP:0000002	Abnormality of body height	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0001507	HP:0001510	Growth delay	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0001507	HP:0004323	Abnormality of body weight	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0001507	HP:0001510	Growth delay	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional		65
HP:0001507	HP:0004323	Abnormality of body weight	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0001507	HP:0004323	Abnormality of body weight	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0001507	HP:0000002	Abnormality of body height	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0001507	HP:0001510	Growth delay	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0001507	HP:0000002	Abnormality of body height	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0001507	HP:0001510	Growth delay	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0001507	HP:0001510	Growth delay	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001507	HP:0000002	Abnormality of body height	1	PDE3A CL E G H	5139	8778	ORPHA:1276	Brachydactyly-arterial hypertension syndrome			9
HP:0001507	HP:0001510	Growth delay	1	PDE3A CL E G H	5139	8778	ORPHA:1276	Brachydactyly-arterial hypertension syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	PDE3A CL E G H	5139	8778	OMIM:112410	Hypertension and brachydactyly syndrome			9
HP:0001507	HP:0001510	Growth delay	1	PDE3A CL E G H	5139	8778	OMIM:112410	Hypertension and brachydactyly syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0001507	HP:0001510	Growth delay	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0001507	HP:0000002	Abnormality of body height	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0001507	HP:0001510	Growth delay	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0001507	HP:0000002	Abnormality of body height	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0001507	HP:0001510	Growth delay	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0001507	HP:0001510	Growth delay	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0001507	HP:0001510	Growth delay	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0001507	HP:0000002	Abnormality of body height	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0001507	HP:0001510	Growth delay	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0001507	HP:0001510	Growth delay	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001507	HP:0004323	Abnormality of body weight	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001507	HP:0001510	Growth delay	1	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis			9
HP:0001507	HP:0004323	Abnormality of body weight	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0001507	HP:0001510	Growth delay	1	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis			28
HP:0001507	HP:0000002	Abnormality of body height	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0001507	HP:0004323	Abnormality of body weight	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001507	HP:0001510	Growth delay	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001507	HP:0004323	Abnormality of body weight	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001507	HP:0004323	Abnormality of body weight	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0001507	HP:0001510	Growth delay	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0001507	HP:0004323	Abnormality of body weight	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0001507	HP:0004323	Abnormality of body weight	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0001507	HP:0000002	Abnormality of body height	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0100555	Asymmetric growth	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0001507	HP:0001510	Growth delay	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001507	HP:0004323	Abnormality of body weight	1	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent			30
HP:0001507	HP:0001510	Growth delay	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0001507	HP:0004323	Abnormality of body weight	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0001507	HP:0001510	Growth delay	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0001507	HP:0004323	Abnormality of body weight	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0001507	HP:0001510	Growth delay	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001507	HP:0004323	Abnormality of body weight	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001507	HP:0004323	Abnormality of body weight	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0001507	HP:0004323	Abnormality of body weight	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0001507	HP:0004323	Abnormality of body weight	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001507	HP:0001510	Growth delay	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001507	HP:0000002	Abnormality of body height	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0001507	HP:0001510	Growth delay	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0001507	HP:0000002	Abnormality of body height	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001507	HP:0001510	Growth delay	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001507	HP:0000002	Abnormality of body height	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0001507	HP:0001510	Growth delay	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001507	HP:0000002	Abnormality of body height	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001507	HP:0001510	Growth delay	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001507	HP:0000002	Abnormality of body height	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001507	HP:0001510	Growth delay	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001507	HP:0000002	Abnormality of body height	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0001507	HP:0001510	Growth delay	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0001507	HP:0001510	Growth delay	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0001507	HP:0000002	Abnormality of body height	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001507	HP:0001510	Growth delay	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001507	HP:0000002	Abnormality of body height	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001507	HP:0001510	Growth delay	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001507	HP:0000002	Abnormality of body height	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0001507	HP:0001510	Growth delay	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0001507	HP:0000002	Abnormality of body height	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001507	HP:0001510	Growth delay	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001507	HP:0000002	Abnormality of body height	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001507	HP:0001510	Growth delay	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001507	HP:0000002	Abnormality of body height	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0001507	HP:0001510	Growth delay	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0001507	HP:0000002	Abnormality of body height	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001507	HP:0001510	Growth delay	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001507	HP:0000002	Abnormality of body height	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001507	HP:0001510	Growth delay	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001507	HP:0000002	Abnormality of body height	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0001507	HP:0001510	Growth delay	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0001507	HP:0000002	Abnormality of body height	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001507	HP:0001510	Growth delay	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001507	HP:0000002	Abnormality of body height	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001507	HP:0001510	Growth delay	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001507	HP:0000002	Abnormality of body height	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0001507	HP:0001510	Growth delay	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0001507	HP:0000002	Abnormality of body height	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001507	HP:0001510	Growth delay	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001507	HP:0000002	Abnormality of body height	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001507	HP:0001510	Growth delay	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001507	HP:0000002	Abnormality of body height	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0001507	HP:0001510	Growth delay	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0001507	HP:0000002	Abnormality of body height	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001507	HP:0001510	Growth delay	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001507	HP:0000002	Abnormality of body height	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001507	HP:0001510	Growth delay	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001507	HP:0000002	Abnormality of body height	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0001507	HP:0001510	Growth delay	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0001507	HP:0000002	Abnormality of body height	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001507	HP:0001510	Growth delay	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001507	HP:0000002	Abnormality of body height	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001507	HP:0001510	Growth delay	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001507	HP:0000002	Abnormality of body height	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001507	HP:0001510	Growth delay	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001507	HP:0000002	Abnormality of body height	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0001507	HP:0001510	Growth delay	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0001507	HP:0001510	Growth delay	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0001507	HP:0000002	Abnormality of body height	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001507	HP:0001510	Growth delay	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001507	HP:0000002	Abnormality of body height	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001507	HP:0001510	Growth delay	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001507	HP:0000002	Abnormality of body height	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0001507	HP:0001510	Growth delay	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0001507	HP:0000002	Abnormality of body height	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001507	HP:0001510	Growth delay	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001507	HP:0000002	Abnormality of body height	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001507	HP:0001510	Growth delay	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001507	HP:0000002	Abnormality of body height	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0001507	HP:0001510	Growth delay	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0001507	HP:0000002	Abnormality of body height	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001507	HP:0001510	Growth delay	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001507	HP:0000002	Abnormality of body height	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001507	HP:0001510	Growth delay	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001507	HP:0000002	Abnormality of body height	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0001507	HP:0001510	Growth delay	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0001507	HP:0001510	Growth delay	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0001507	HP:0000002	Abnormality of body height	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0001507	HP:0001510	Growth delay	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0001507	HP:0000002	Abnormality of body height	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001507	HP:0001510	Growth delay	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001507	HP:0000002	Abnormality of body height	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0001507	HP:0001510	Growth delay	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0001507	HP:0000002	Abnormality of body height	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001507	HP:0001510	Growth delay	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001507	HP:0000002	Abnormality of body height	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0001507	HP:0001510	Growth delay	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0001507	HP:0000002	Abnormality of body height	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001507	HP:0001510	Growth delay	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001507	HP:0000002	Abnormality of body height	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0001510	Growth delay	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0004323	Abnormality of body weight	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0000002	Abnormality of body height	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001507	HP:0001510	Growth delay	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001507	HP:0004323	Abnormality of body weight	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001507	HP:0001510	Growth delay	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0001510	Growth delay	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	HP:0040283 - Occasional		20
HP:0001507	HP:0001510	Growth delay	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		20
HP:0001507	HP:0000002	Abnormality of body height	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001507	HP:0001510	Growth delay	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001507	HP:0004323	Abnormality of body weight	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001507	HP:0000002	Abnormality of body height	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001507	HP:0001510	Growth delay	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001507	HP:0004323	Abnormality of body weight	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001507	HP:0000002	Abnormality of body height	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0001507	HP:0001510	Growth delay	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		16
HP:0001507	HP:0000002	Abnormality of body height	1	PHC1 CL E G H	1911	3182	OMIM:615414	Microcephaly 11, primary, autosomal recessive			16
HP:0001507	HP:0001510	Growth delay	1	PHC1 CL E G H	1911	3182	OMIM:615414	Microcephaly 11, primary, autosomal recessive			16
HP:0001507	HP:0000002	Abnormality of body height	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0001507	HP:0001510	Growth delay	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0001507	HP:0000002	Abnormality of body height	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0001507	HP:0001510	Growth delay	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0001507	HP:0004323	Abnormality of body weight	1	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0001507	HP:0001510	Growth delay	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0000002	Abnormality of body height	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0001510	Growth delay	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0001510	Growth delay	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0004323	Abnormality of body weight	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0004323	Abnormality of body weight	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0000002	Abnormality of body height	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001507	HP:0001510	Growth delay	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001507	HP:0004323	Abnormality of body weight	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001507	HP:0001510	Growth delay	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001507	HP:0001510	Growth delay	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0001507	HP:0004323	Abnormality of body weight	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0001507	HP:0004323	Abnormality of body weight	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001507	HP:0001510	Growth delay	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		54
HP:0001507	HP:0004323	Abnormality of body weight	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001507	HP:0001510	Growth delay	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.		54
HP:0001507	HP:0000002	Abnormality of body height	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001507	HP:0001510	Growth delay	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001507	HP:0004323	Abnormality of body weight	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001507	HP:0000002	Abnormality of body height	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0001507	HP:0001510	Growth delay	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0001507	HP:0000002	Abnormality of body height	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001507	HP:0001510	Growth delay	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		48
HP:0001507	HP:0004323	Abnormality of body weight	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001507	HP:0001510	Growth delay	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0001507	HP:0004323	Abnormality of body weight	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001507	HP:0001510	Growth delay	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0001507	HP:0001510	Growth delay	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001507	HP:0000002	Abnormality of body height	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001507	HP:0001510	Growth delay	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001507	HP:0000002	Abnormality of body height	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0001507	HP:0001510	Growth delay	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0001507	HP:0000002	Abnormality of body height	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0001507	HP:0001510	Growth delay	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0001507	HP:0000002	Abnormality of body height	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001507	HP:0001510	Growth delay	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001507	HP:0000002	Abnormality of body height	1	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0001507	HP:0001510	Growth delay	1	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome			77
HP:0001507	HP:0000002	Abnormality of body height	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001507	HP:0001510	Growth delay	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0001507	HP:0001510	Growth delay	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0001507	HP:0004323	Abnormality of body weight	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001507	HP:0000002	Abnormality of body height	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001507	HP:0000002	Abnormality of body height	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0001510	Growth delay	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0001510	Growth delay	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001507	HP:0001510	Growth delay	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0001510	Growth delay	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0001507	HP:0000002	Abnormality of body height	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0001510	Growth delay	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0030853	Heterotaxy	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0001510	Growth delay	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0001507	HP:0000002	Abnormality of body height	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001507	HP:0001510	Growth delay	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		36
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001507	HP:0001510	Growth delay	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001507	HP:0001510	Growth delay	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		84
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001507	HP:0001510	Growth delay	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001507	HP:0004323	Abnormality of body weight	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0001507	HP:0001510	Growth delay	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		57
HP:0001507	HP:0001510	Growth delay	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0001510	Growth delay	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001507	HP:0001510	Growth delay	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0001507	HP:0001510	Growth delay	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0001507	HP:0001510	Growth delay	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0001507	HP:0100555	Asymmetric growth	1	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth			162
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0001507	HP:0100555	Asymmetric growth	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0001507	HP:0001510	Growth delay	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0001507	HP:0100555	Asymmetric growth	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent		162
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36			43
HP:0001507	HP:0001510	Growth delay	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.		43
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0001507	HP:0001510	Growth delay	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0001507	HP:0001510	Growth delay	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0001507	HP:0004323	Abnormality of body weight	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0001507	HP:0000002	Abnormality of body height	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001507	HP:0000002	Abnormality of body height	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0001507	HP:0001510	Growth delay	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0001507	HP:0000002	Abnormality of body height	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0001507	HP:0001510	Growth delay	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0001507	HP:0001510	Growth delay	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional		51
HP:0001507	HP:0030853	Heterotaxy	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001507	HP:0000002	Abnormality of body height	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0001510	Growth delay	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0004323	Abnormality of body weight	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0001510	Growth delay	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0001507	HP:0004323	Abnormality of body weight	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0001507	HP:0001510	Growth delay	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001507	HP:0000002	Abnormality of body height	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0001507	HP:0001510	Growth delay	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0001507	HP:0004323	Abnormality of body weight	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0001507	HP:0004323	Abnormality of body weight	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0001507	HP:0000002	Abnormality of body height	1	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0001510	Growth delay	1	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0001510	Growth delay	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001507	HP:0100555	Asymmetric growth	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0001507	HP:0004323	Abnormality of body weight	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001507	HP:0001510	Growth delay	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001507	HP:0001510	Growth delay	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0004323	Abnormality of body weight	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0000002	Abnormality of body height	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0001507	HP:0001510	Growth delay	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0001507	HP:0000002	Abnormality of body height	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0001507	HP:0001510	Growth delay	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0001507	HP:0000002	Abnormality of body height	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0001507	HP:0001510	Growth delay	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0001507	HP:0001510	Growth delay	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0001507	HP:0000002	Abnormality of body height	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0001507	HP:0001510	Growth delay	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0001507	HP:0004323	Abnormality of body weight	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001507	HP:0000002	Abnormality of body height	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001507	HP:0000002	Abnormality of body height	1	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0001507	HP:0001510	Growth delay	1	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0001507	HP:0000002	Abnormality of body height	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0001507	HP:0001510	Growth delay	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0001507	HP:0001510	Growth delay	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0001507	HP:0000002	Abnormality of body height	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001507	HP:0001510	Growth delay	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001507	HP:0004323	Abnormality of body weight	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001507	HP:0001510	Growth delay	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0001507	HP:0000002	Abnormality of body height	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0001507	HP:0001510	Growth delay	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0001507	HP:0004323	Abnormality of body weight	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0001507	HP:0001510	Growth delay	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001507	HP:0004323	Abnormality of body weight	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001507	HP:0004323	Abnormality of body weight	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0001507	HP:0000002	Abnormality of body height	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0001507	HP:0001510	Growth delay	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0001507	HP:0000002	Abnormality of body height	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0001507	HP:0001510	Growth delay	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0001507	HP:0004323	Abnormality of body weight	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0001507	HP:0004323	Abnormality of body weight	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0001507	HP:0004323	Abnormality of body weight	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0001507	HP:0004323	Abnormality of body weight	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0001507	HP:0004323	Abnormality of body weight	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001507	HP:0004323	Abnormality of body weight	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001507	HP:0000002	Abnormality of body height	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0001507	HP:0001510	Growth delay	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0001507	HP:0004323	Abnormality of body weight	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0001507	HP:0000002	Abnormality of body height	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0001507	HP:0001510	Growth delay	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0001507	HP:0000002	Abnormality of body height	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001507	HP:0001510	Growth delay	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001507	HP:0000002	Abnormality of body height	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0001507	HP:0001510	Growth delay	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0001507	HP:0000002	Abnormality of body height	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome			103
HP:0001507	HP:0000002	Abnormality of body height	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0001507	HP:0001510	Growth delay	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome			103
HP:0001507	HP:0001510	Growth delay	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0001507	HP:0004323	Abnormality of body weight	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0001507	HP:0000002	Abnormality of body height	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001507	HP:0001510	Growth delay	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001507	HP:0004323	Abnormality of body weight	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001507	HP:0001510	Growth delay	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0001507	HP:0004323	Abnormality of body weight	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001507	HP:0004323	Abnormality of body weight	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0001507	HP:0001510	Growth delay	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0001507	HP:0004323	Abnormality of body weight	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0001507	HP:0001510	Growth delay	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13	.		60
HP:0001507	HP:0000002	Abnormality of body height	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0001510	Growth delay	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0001507	HP:0004323	Abnormality of body weight	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0001510	Growth delay	1	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B			31
HP:0001507	HP:0000002	Abnormality of body height	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0000002	Abnormality of body height	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0001507	HP:0001510	Growth delay	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0001510	Growth delay	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0001507	HP:0004323	Abnormality of body weight	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0004323	Abnormality of body weight	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0001507	HP:0004323	Abnormality of body weight	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0001507	HP:0000002	Abnormality of body height	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001507	HP:0001510	Growth delay	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001507	HP:0000002	Abnormality of body height	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0001507	HP:0001510	Growth delay	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0001507	HP:0004323	Abnormality of body weight	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0001507	HP:0000002	Abnormality of body height	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature			1129
HP:0001507	HP:0001510	Growth delay	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature			1129
HP:0001507	HP:0001510	Growth delay	1	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome			1129
HP:0001507	HP:0000002	Abnormality of body height	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0001507	HP:0001510	Growth delay	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0001507	HP:0004323	Abnormality of body weight	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001507	HP:0000002	Abnormality of body height	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0001507	HP:0000002	Abnormality of body height	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001507	HP:0004323	Abnormality of body weight	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0001507	HP:0000002	Abnormality of body height	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0001507	HP:0001510	Growth delay	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type			8
HP:0001507	HP:0000002	Abnormality of body height	1	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome			8
HP:0001507	HP:0001510	Growth delay	1	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0001507	HP:0001510	Growth delay	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0001507	HP:0001510	Growth delay	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0001510	Growth delay	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0001507	HP:0001510	Growth delay	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0001507	HP:0001510	Growth delay	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0001507	HP:0001510	Growth delay	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001507	HP:0001510	Growth delay	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001507	HP:0000002	Abnormality of body height	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001510	Growth delay	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001510	Growth delay	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001507	HP:0004323	Abnormality of body weight	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001507	HP:0000002	Abnormality of body height	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001507	HP:0001510	Growth delay	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001507	HP:0004323	Abnormality of body weight	1	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0001507	HP:0001510	Growth delay	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional		27
HP:0001507	HP:0004323	Abnormality of body weight	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0001507	HP:0004323	Abnormality of body weight	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0001507	HP:0004323	Abnormality of body weight	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0001507	HP:0004323	Abnormality of body weight	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0001507	HP:0000002	Abnormality of body height	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0001507	HP:0001510	Growth delay	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0001507	HP:0004323	Abnormality of body weight	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001507	HP:0000002	Abnormality of body height	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001507	HP:0001510	Growth delay	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001507	HP:0000002	Abnormality of body height	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0001507	HP:0001510	Growth delay	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0001507	HP:0100555	Asymmetric growth	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0001507	HP:0000002	Abnormality of body height	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0001507	HP:0001510	Growth delay	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		36
HP:0001507	HP:0000002	Abnormality of body height	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0001507	HP:0001510	Growth delay	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0001507	HP:0004323	Abnormality of body weight	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0001507	HP:0000002	Abnormality of body height	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001507	HP:0001510	Growth delay	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001507	HP:0004323	Abnormality of body weight	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001507	HP:0001510	Growth delay	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0001507	HP:0004323	Abnormality of body weight	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0001507	HP:0004323	Abnormality of body weight	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0000002	Abnormality of body height	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001507	HP:0004323	Abnormality of body weight	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001507	HP:0004323	Abnormality of body weight	1	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent			42
HP:0001507	HP:0004323	Abnormality of body weight	1	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0001507	HP:0000002	Abnormality of body height	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0001510	Growth delay	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0004323	Abnormality of body weight	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0000002	Abnormality of body height	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0001507	HP:0001510	Growth delay	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0001507	HP:0001510	Growth delay	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001507	HP:0001510	Growth delay	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001507	HP:0000002	Abnormality of body height	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0001507	HP:0001510	Growth delay	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0001507	HP:0000002	Abnormality of body height	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001507	HP:0001510	Growth delay	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001507	HP:0004323	Abnormality of body weight	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001507	HP:0000002	Abnormality of body height	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0001510	Growth delay	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0000002	Abnormality of body height	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0001507	HP:0001510	Growth delay	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0001507	HP:0000002	Abnormality of body height	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0001507	HP:0001510	Growth delay	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0001507	HP:0001510	Growth delay	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0001507	HP:0000002	Abnormality of body height	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0001507	HP:0001510	Growth delay	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0001507	HP:0000002	Abnormality of body height	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0001507	HP:0001510	Growth delay	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0001507	HP:0000002	Abnormality of body height	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0001510	Growth delay	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0000002	Abnormality of body height	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0001507	HP:0001510	Growth delay	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0001507	HP:0000002	Abnormality of body height	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001507	HP:0001510	Growth delay	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001507	HP:0000002	Abnormality of body height	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0001507	HP:0001510	Growth delay	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent		28
HP:0001507	HP:0000002	Abnormality of body height	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0001507	HP:0001510	Growth delay	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0001507	HP:0004323	Abnormality of body weight	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0001507	HP:0000002	Abnormality of body height	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0001507	HP:0001510	Growth delay	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0001507	HP:0004323	Abnormality of body weight	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0001507	HP:0004323	Abnormality of body weight	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0001507	HP:0001510	Growth delay	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001507	HP:0001510	Growth delay	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001507	HP:0000002	Abnormality of body height	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001507	HP:0001510	Growth delay	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001507	HP:0100555	Asymmetric growth	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001507	HP:0004323	Abnormality of body weight	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001507	HP:0004323	Abnormality of body weight	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001507	HP:0001510	Growth delay	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0004323	Abnormality of body weight	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0001507	HP:0001510	Growth delay	1	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0004323	Abnormality of body weight	1	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22			7
HP:0001507	HP:0001510	Growth delay	1	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22			7
HP:0001507	HP:0004323	Abnormality of body weight	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0001507	HP:0001510	Growth delay	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001507	HP:0000002	Abnormality of body height	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0001510	Growth delay	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0001507	HP:0001510	Growth delay	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001507	HP:0000002	Abnormality of body height	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0001510	Growth delay	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0001507	HP:0001510	Growth delay	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0001507	HP:0000002	Abnormality of body height	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0001510	Growth delay	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0000002	Abnormality of body height	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0001507	HP:0001510	Growth delay	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0001507	HP:0000002	Abnormality of body height	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001507	HP:0033794	Acral overgrowth	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0001507	HP:0001510	Growth delay	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0000002	Abnormality of body height	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0100555	Asymmetric growth	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0001507	HP:0000002	Abnormality of body height	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0001507	HP:0000002	Abnormality of body height	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001507	HP:0001510	Growth delay	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001507	HP:0000002	Abnormality of body height	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001507	HP:0001510	Growth delay	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001507	HP:0000002	Abnormality of body height	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0001507	HP:0001510	Growth delay	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0001507	HP:0004323	Abnormality of body weight	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0001507	HP:0004323	Abnormality of body weight	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0001507	HP:0004323	Abnormality of body weight	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0001507	HP:0001510	Growth delay	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		9
HP:0001507	HP:0001510	Growth delay	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0001507	HP:0004323	Abnormality of body weight	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0001507	HP:0001510	Growth delay	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0004323	Abnormality of body weight	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0001507	HP:0001510	Growth delay	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0004323	Abnormality of body weight	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0000002	Abnormality of body height	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0001507	HP:0001510	Growth delay	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0001507	HP:0004323	Abnormality of body weight	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0001507	HP:0001510	Growth delay	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0001507	HP:0004323	Abnormality of body weight	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0001507	HP:0004323	Abnormality of body weight	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0001507	HP:0000002	Abnormality of body height	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0001507	HP:0001510	Growth delay	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		54
HP:0001507	HP:0000002	Abnormality of body height	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0001507	HP:0001510	Growth delay	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0001507	HP:0004323	Abnormality of body weight	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0001507	HP:0000002	Abnormality of body height	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0001507	HP:0001510	Growth delay	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		54
HP:0001507	HP:0000002	Abnormality of body height	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2			54
HP:0001507	HP:0001510	Growth delay	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2			54
HP:0001507	HP:0001510	Growth delay	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001507	HP:0004323	Abnormality of body weight	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0001507	HP:0001510	Growth delay	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0001507	HP:0000002	Abnormality of body height	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0001507	HP:0001510	Growth delay	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0001507	HP:0000002	Abnormality of body height	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001507	HP:0001510	Growth delay	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001507	HP:0004323	Abnormality of body weight	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001507	HP:0000002	Abnormality of body height	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001507	HP:0001510	Growth delay	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001507	HP:0004323	Abnormality of body weight	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001507	HP:0004323	Abnormality of body weight	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0001507	HP:0001510	Growth delay	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001507	HP:0001510	Growth delay	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001507	HP:0004323	Abnormality of body weight	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001507	HP:0004323	Abnormality of body weight	1	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001507	HP:0004323	Abnormality of body weight	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001507	HP:0000002	Abnormality of body height	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001507	HP:0001510	Growth delay	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001507	HP:0004323	Abnormality of body weight	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001507	HP:0004323	Abnormality of body weight	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001507	HP:0004323	Abnormality of body weight	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001507	HP:0000002	Abnormality of body height	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0001507	HP:0001510	Growth delay	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0001507	HP:0001510	Growth delay	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3			2
HP:0001507	HP:0100555	Asymmetric growth	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0001510	Growth delay	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0001507	HP:0001510	Growth delay	1	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency			54
HP:0001507	HP:0000002	Abnormality of body height	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0001510	Growth delay	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0004323	Abnormality of body weight	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0000002	Abnormality of body height	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0001507	HP:0001510	Growth delay	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0004323	Abnormality of body weight	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0001507	HP:0000002	Abnormality of body height	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0001507	HP:0001510	Growth delay	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0001507	HP:0004323	Abnormality of body weight	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0001507	HP:0000002	Abnormality of body height	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001507	HP:0001510	Growth delay	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001507	HP:0000002	Abnormality of body height	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0001507	HP:0001510	Growth delay	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0004323	Abnormality of body weight	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0001507	HP:0000002	Abnormality of body height	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0001507	HP:0004323	Abnormality of body weight	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0001507	HP:0000002	Abnormality of body height	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0001507	HP:0001510	Growth delay	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0004323	Abnormality of body weight	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0001507	HP:0000002	Abnormality of body height	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0000002	Abnormality of body height	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0001510	Growth delay	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0001510	Growth delay	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0000002	Abnormality of body height	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0001507	HP:0001510	Growth delay	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0001507	HP:0004323	Abnormality of body weight	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0001507	HP:0000002	Abnormality of body height	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0001507	HP:0001510	Growth delay	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0001507	HP:0004323	Abnormality of body weight	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0001507	HP:0000002	Abnormality of body height	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001507	HP:0001510	Growth delay	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001507	HP:0004323	Abnormality of body weight	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001507	HP:0004323	Abnormality of body weight	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0001507	HP:0000002	Abnormality of body height	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0001507	HP:0100555	Asymmetric growth	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0004323	Abnormality of body weight	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0001507	HP:0100555	Asymmetric growth	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0001507	HP:0100555	Asymmetric growth	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0001507	HP:0004323	Abnormality of body weight	1	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0001507	HP:0001510	Growth delay	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001507	HP:0004323	Abnormality of body weight	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001507	HP:0000002	Abnormality of body height	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001507	HP:0001510	Growth delay	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001507	HP:0000002	Abnormality of body height	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0001507	HP:0000002	Abnormality of body height	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0001507	HP:0001510	Growth delay	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0001507	HP:0001510	Growth delay	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0001507	HP:0004323	Abnormality of body weight	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0001507	HP:0000002	Abnormality of body height	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0001507	HP:0001510	Growth delay	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0001507	HP:0000002	Abnormality of body height	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E			6
HP:0001507	HP:0001510	Growth delay	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E			6
HP:0001507	HP:0100555	Asymmetric growth	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E			6
HP:0001507	HP:0000002	Abnormality of body height	1	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2			6
HP:0001507	HP:0001510	Growth delay	1	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0000002	Abnormality of body height	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001507	HP:0001510	Growth delay	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001507	HP:0000002	Abnormality of body height	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001507	HP:0001510	Growth delay	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001507	HP:0000002	Abnormality of body height	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001507	HP:0001510	Growth delay	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001507	HP:0000002	Abnormality of body height	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001507	HP:0001510	Growth delay	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0001507	HP:0001510	Growth delay	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0001510	Growth delay	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0001507	HP:0001510	Growth delay	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0001510	Growth delay	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0000002	Abnormality of body height	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0001507	HP:0001510	Growth delay	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0001507	HP:0001510	Growth delay	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001507	HP:0000002	Abnormality of body height	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0001507	HP:0001510	Growth delay	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0001507	HP:0004323	Abnormality of body weight	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0001507	HP:0000002	Abnormality of body height	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001507	HP:0001510	Growth delay	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001507	HP:0004323	Abnormality of body weight	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001507	HP:0000002	Abnormality of body height	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001507	HP:0001510	Growth delay	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001507	HP:0000002	Abnormality of body height	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0001507	HP:0001510	Growth delay	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0001507	HP:0000002	Abnormality of body height	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0001507	HP:0001510	Growth delay	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0001507	HP:0001510	Growth delay	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0001507	HP:0001510	Growth delay	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001507	HP:0004323	Abnormality of body weight	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001507	HP:0004323	Abnormality of body weight	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001507	HP:0001510	Growth delay	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001507	HP:0004323	Abnormality of body weight	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001507	HP:0000002	Abnormality of body height	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001510	Growth delay	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001510	Growth delay	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001510	Growth delay	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0001507	HP:0004323	Abnormality of body weight	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0001507	HP:0001510	Growth delay	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0001507	HP:0000002	Abnormality of body height	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0001507	HP:0001510	Growth delay	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040282 - Frequent		53
HP:0001507	HP:0000002	Abnormality of body height	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0001507	HP:0001510	Growth delay	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		11
HP:0001507	HP:0004323	Abnormality of body weight	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0001507	HP:0004323	Abnormality of body weight	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0001507	HP:0000002	Abnormality of body height	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0001507	HP:0001510	Growth delay	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent		71
HP:0001507	HP:0004323	Abnormality of body weight	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0001507	HP:0001510	Growth delay	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0001507	HP:0004323	Abnormality of body weight	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0001507	HP:0000002	Abnormality of body height	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001507	HP:0000002	Abnormality of body height	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001507	HP:0001510	Growth delay	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001507	HP:0001510	Growth delay	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001507	HP:0000002	Abnormality of body height	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0001507	HP:0001510	Growth delay	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0001507	HP:0001510	Growth delay	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0001507	HP:0004323	Abnormality of body weight	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0001507	HP:0000002	Abnormality of body height	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001507	HP:0001510	Growth delay	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001507	HP:0004323	Abnormality of body weight	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001507	HP:0000002	Abnormality of body height	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0001507	HP:0001510	Growth delay	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0001507	HP:0004323	Abnormality of body weight	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0001507	HP:0000002	Abnormality of body height	1	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0001507	HP:0001510	Growth delay	1	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0001507	HP:0000002	Abnormality of body height	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0001507	HP:0000002	Abnormality of body height	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0001507	HP:0004323	Abnormality of body weight	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0001507	HP:0000002	Abnormality of body height	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0001507	HP:0000002	Abnormality of body height	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0001507	HP:0004323	Abnormality of body weight	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0001507	HP:0000002	Abnormality of body height	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0001507	HP:0000002	Abnormality of body height	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0001507	HP:0000002	Abnormality of body height	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0001507	HP:0001510	Growth delay	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0001507	HP:0004323	Abnormality of body weight	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0001507	HP:0001510	Growth delay	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001507	HP:0004323	Abnormality of body weight	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C			9
HP:0001507	HP:0000002	Abnormality of body height	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0001507	HP:0001510	Growth delay	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0001507	HP:0000002	Abnormality of body height	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0001510	Growth delay	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0004323	Abnormality of body weight	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0000002	Abnormality of body height	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001507	HP:0001510	Growth delay	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001507	HP:0000002	Abnormality of body height	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0001507	HP:0001510	Growth delay	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0001507	HP:0000002	Abnormality of body height	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001507	HP:0001510	Growth delay	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001507	HP:0004323	Abnormality of body weight	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001507	HP:0001510	Growth delay	1	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R	.		9
HP:0001507	HP:0000002	Abnormality of body height	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001507	HP:0001510	Growth delay	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001507	HP:0004323	Abnormality of body weight	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001507	HP:0000002	Abnormality of body height	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O			391
HP:0001507	HP:0001510	Growth delay	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O			391
HP:0001507	HP:0000002	Abnormality of body height	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001507	HP:0001510	Growth delay	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001507	HP:0000002	Abnormality of body height	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001507	HP:0001510	Growth delay	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001507	HP:0000002	Abnormality of body height	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001507	HP:0001510	Growth delay	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001507	HP:0004323	Abnormality of body weight	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001507	HP:0000002	Abnormality of body height	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001507	HP:0001510	Growth delay	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0001507	HP:0004323	Abnormality of body weight	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0001507	HP:0000002	Abnormality of body height	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0001507	HP:0001510	Growth delay	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0001507	HP:0004323	Abnormality of body weight	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0001507	HP:0004323	Abnormality of body weight	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001507	HP:0000002	Abnormality of body height	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001507	HP:0000002	Abnormality of body height	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001507	HP:0001510	Growth delay	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001507	HP:0001510	Growth delay	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001507	HP:0004323	Abnormality of body weight	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001507	HP:0004323	Abnormality of body weight	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001507	HP:0001510	Growth delay	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001507	HP:0004323	Abnormality of body weight	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001507	HP:0004323	Abnormality of body weight	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0001507	HP:0001510	Growth delay	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0001507	HP:0100555	Asymmetric growth	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0001507	HP:0000002	Abnormality of body height	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001507	HP:0001510	Growth delay	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001507	HP:0000002	Abnormality of body height	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0001507	HP:0001510	Growth delay	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0001507	HP:0004323	Abnormality of body weight	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0001507	HP:0000002	Abnormality of body height	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0001507	HP:0001510	Growth delay	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0001507	HP:0004323	Abnormality of body weight	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0001507	HP:0000002	Abnormality of body height	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0001507	HP:0001510	Growth delay	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0001507	HP:0004323	Abnormality of body weight	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0001507	HP:0001510	Growth delay	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.		10
HP:0001507	HP:0004323	Abnormality of body weight	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001507	HP:0001510	Growth delay	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001507	HP:0001510	Growth delay	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001507	HP:0000002	Abnormality of body height	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0001507	HP:0001510	Growth delay	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0001507	HP:0001510	Growth delay	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001507	HP:0001510	Growth delay	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001507	HP:0004323	Abnormality of body weight	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0001507	HP:0004323	Abnormality of body weight	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0001507	HP:0004323	Abnormality of body weight	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001507	HP:0000002	Abnormality of body height	1	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome			2
HP:0001507	HP:0001510	Growth delay	1	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0001507	HP:0001510	Growth delay	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0001507	HP:0000002	Abnormality of body height	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0001507	HP:0000002	Abnormality of body height	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0001507	HP:0001510	Growth delay	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0001507	HP:0001510	Growth delay	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent		445
HP:0001507	HP:0004323	Abnormality of body weight	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0001507	HP:0000002	Abnormality of body height	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome			445
HP:0001507	HP:0001510	Growth delay	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome			445
HP:0001507	HP:0000002	Abnormality of body height	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0001507	HP:0001510	Growth delay	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0001507	HP:0004323	Abnormality of body weight	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0001507	HP:0000002	Abnormality of body height	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0001507	HP:0001510	Growth delay	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0001507	HP:0004323	Abnormality of body weight	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0001507	HP:0004323	Abnormality of body weight	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0001507	HP:0004323	Abnormality of body weight	1	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53			1
HP:0001507	HP:0001510	Growth delay	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0001507	HP:0000002	Abnormality of body height	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001507	HP:0001510	Growth delay	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001507	HP:0100555	Asymmetric growth	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001507	HP:0000002	Abnormality of body height	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001507	HP:0001510	Growth delay	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001507	HP:0001510	Growth delay	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0001507	HP:0004323	Abnormality of body weight	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001507	HP:0004323	Abnormality of body weight	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0001507	HP:0000002	Abnormality of body height	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0001507	HP:0001510	Growth delay	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0001507	HP:0004323	Abnormality of body weight	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0001507	HP:0000002	Abnormality of body height	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0001507	HP:0004323	Abnormality of body weight	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0001507	HP:0004323	Abnormality of body weight	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0001507	HP:0004323	Abnormality of body weight	1	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0000002	Abnormality of body height	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0001507	HP:0001510	Growth delay	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0001507	HP:0004323	Abnormality of body weight	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0001507	HP:0000002	Abnormality of body height	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0001507	HP:0001510	Growth delay	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0001507	HP:0004323	Abnormality of body weight	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0001507	HP:0000002	Abnormality of body height	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001507	HP:0001510	Growth delay	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001507	HP:0004323	Abnormality of body weight	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001507	HP:0001510	Growth delay	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0001507	HP:0004323	Abnormality of body weight	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0001507	HP:0004323	Abnormality of body weight	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0001507	HP:0001510	Growth delay	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0001507	HP:0004323	Abnormality of body weight	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0001507	HP:0004323	Abnormality of body weight	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0001507	HP:0004323	Abnormality of body weight	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0001507	HP:0004323	Abnormality of body weight	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0001507	HP:0004323	Abnormality of body weight	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0001507	HP:0001510	Growth delay	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001507	HP:0004323	Abnormality of body weight	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0001507	HP:0001510	Growth delay	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001507	HP:0001510	Growth delay	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0001507	HP:0000002	Abnormality of body height	1	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2
HP:0001507	HP:0001510	Growth delay	1	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2
HP:0001507	HP:0000002	Abnormality of body height	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0001507	HP:0001510	Growth delay	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0001507	HP:0004323	Abnormality of body weight	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0001507	HP:0000002	Abnormality of body height	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0001507	HP:0001510	Growth delay	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0001507	HP:0004323	Abnormality of body weight	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001507	HP:0001510	Growth delay	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001507	HP:0000002	Abnormality of body height	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0001507	HP:0001510	Growth delay	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0001507	HP:0000002	Abnormality of body height	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001507	HP:0001510	Growth delay	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001507	HP:0000002	Abnormality of body height	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0001510	Growth delay	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0004323	Abnormality of body weight	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0004323	Abnormality of body weight	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0001507	HP:0000002	Abnormality of body height	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0001507	HP:0001510	Growth delay	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0001507	HP:0000002	Abnormality of body height	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0001510	Growth delay	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0000002	Abnormality of body height	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001507	HP:0000002	Abnormality of body height	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001507	HP:0001510	Growth delay	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001507	HP:0001510	Growth delay	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001507	HP:0004323	Abnormality of body weight	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001507	HP:0000002	Abnormality of body height	1	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0001507	HP:0001510	Growth delay	1	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0001507	HP:0004323	Abnormality of body weight	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001507	HP:0000002	Abnormality of body height	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0001507	HP:0001510	Growth delay	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0001507	HP:0001510	Growth delay	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0001507	HP:0000002	Abnormality of body height	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0001507	HP:0001510	Growth delay	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0001507	HP:0001510	Growth delay	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0001507	HP:0001510	Growth delay	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001507	HP:0000002	Abnormality of body height	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0001507	HP:0001510	Growth delay	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0001507	HP:0100555	Asymmetric growth	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001507	HP:0004323	Abnormality of body weight	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0001507	HP:0000002	Abnormality of body height	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0001507	HP:0004323	Abnormality of body weight	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0001507	HP:0001510	Growth delay	1	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0001507	HP:0001510	Growth delay	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0001507	HP:0001510	Growth delay	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001507	HP:0004323	Abnormality of body weight	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001507	HP:0000002	Abnormality of body height	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0001507	HP:0001510	Growth delay	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0001507	HP:0000002	Abnormality of body height	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0001507	HP:0001510	Growth delay	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0001507	HP:0004323	Abnormality of body weight	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0001507	HP:0000002	Abnormality of body height	1	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0001507	HP:0000002	Abnormality of body height	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0001510	Growth delay	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0004323	Abnormality of body weight	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0000002	Abnormality of body height	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0001507	HP:0001510	Growth delay	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0001507	HP:0000002	Abnormality of body height	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001507	HP:0001510	Growth delay	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001507	HP:0000002	Abnormality of body height	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0001510	Growth delay	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0004323	Abnormality of body weight	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0000002	Abnormality of body height	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001507	HP:0000002	Abnormality of body height	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0001507	HP:0001510	Growth delay	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001507	HP:0001510	Growth delay	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0001507	HP:0000002	Abnormality of body height	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001507	HP:0001510	Growth delay	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001507	HP:0001510	Growth delay	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001507	HP:0004323	Abnormality of body weight	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001507	HP:0000002	Abnormality of body height	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0001507	HP:0001510	Growth delay	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0001507	HP:0000002	Abnormality of body height	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0001507	HP:0001510	Growth delay	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0001507	HP:0004323	Abnormality of body weight	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0001507	HP:0000002	Abnormality of body height	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001507	HP:0001510	Growth delay	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001507	HP:0000002	Abnormality of body height	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0001507	HP:0001510	Growth delay	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0001507	HP:0004323	Abnormality of body weight	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0001507	HP:0004323	Abnormality of body weight	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0001507	HP:0004323	Abnormality of body weight	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0001507	HP:0004323	Abnormality of body weight	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0001507	HP:0004323	Abnormality of body weight	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0001507	HP:0004323	Abnormality of body weight	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0001507	HP:0000002	Abnormality of body height	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001507	HP:0001510	Growth delay	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001507	HP:0001510	Growth delay	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0001507	HP:0001510	Growth delay	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0001507	HP:0000002	Abnormality of body height	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001510	Growth delay	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001510	Growth delay	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001507	HP:0000002	Abnormality of body height	1	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0001507	HP:0001510	Growth delay	1	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0001507	HP:0000002	Abnormality of body height	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0001510	Growth delay	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0000002	Abnormality of body height	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001510	Growth delay	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0000002	Abnormality of body height	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0001510	Growth delay	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0000002	Abnormality of body height	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001507	HP:0001510	Growth delay	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001507	HP:0000002	Abnormality of body height	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001510	Growth delay	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0000002	Abnormality of body height	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001510	Growth delay	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0000002	Abnormality of body height	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001510	Growth delay	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0000002	Abnormality of body height	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001507	HP:0001510	Growth delay	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001507	HP:0000002	Abnormality of body height	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001507	HP:0001510	Growth delay	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001507	HP:0000002	Abnormality of body height	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001507	HP:0001510	Growth delay	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001507	HP:0001510	Growth delay	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0001507	HP:0004323	Abnormality of body weight	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001507	HP:0000002	Abnormality of body height	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001507	HP:0001510	Growth delay	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001507	HP:0001510	Growth delay	1	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9	.		26
HP:0001507	HP:0000002	Abnormality of body height	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0001510	Growth delay	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0000002	Abnormality of body height	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001507	HP:0001510	Growth delay	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001507	HP:0000002	Abnormality of body height	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001507	HP:0001510	Growth delay	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.		5
HP:0001507	HP:0000002	Abnormality of body height	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001507	HP:0001510	Growth delay	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001507	HP:0000002	Abnormality of body height	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001507	HP:0001510	Growth delay	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001507	HP:0000002	Abnormality of body height	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001510	Growth delay	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0001507	HP:0000002	Abnormality of body height	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0001507	HP:0001510	Growth delay	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0001507	HP:0000002	Abnormality of body height	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001510	Growth delay	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0000002	Abnormality of body height	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0001510	Growth delay	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0000002	Abnormality of body height	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001507	HP:0001510	Growth delay	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0001507	HP:0000002	Abnormality of body height	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001510	Growth delay	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0000002	Abnormality of body height	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001510	Growth delay	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0000002	Abnormality of body height	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0001507	HP:0001510	Growth delay	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0001507	HP:0000002	Abnormality of body height	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0001510	Growth delay	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0000002	Abnormality of body height	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0001507	HP:0000002	Abnormality of body height	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0001507	HP:0001510	Growth delay	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0001507	HP:0001510	Growth delay	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0001507	HP:0000002	Abnormality of body height	1	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers			65
HP:0001507	HP:0001510	Growth delay	1	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers			65
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers			65
HP:0001507	HP:0000002	Abnormality of body height	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0001510	Growth delay	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001507	HP:0004323	Abnormality of body weight	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0000002	Abnormality of body height	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0001507	HP:0001510	Growth delay	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.		20
HP:0001507	HP:0000002	Abnormality of body height	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001507	HP:0001510	Growth delay	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001507	HP:0001510	Growth delay	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001507	HP:0004323	Abnormality of body weight	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0001507	HP:0004323	Abnormality of body weight	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0001507	HP:0000002	Abnormality of body height	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0001507	HP:0001510	Growth delay	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0001507	HP:0000002	Abnormality of body height	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0001507	HP:0001510	Growth delay	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11			58
HP:0001507	HP:0000002	Abnormality of body height	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0001507	HP:0001510	Growth delay	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0001507	HP:0000002	Abnormality of body height	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001507	HP:0001510	Growth delay	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0001507	HP:0001510	Growth delay	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0001507	HP:0000002	Abnormality of body height	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0001507	HP:0001510	Growth delay	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0001507	HP:0001510	Growth delay	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5			77
HP:0001507	HP:0000002	Abnormality of body height	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0001507	HP:0001510	Growth delay	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0001507	HP:0004323	Abnormality of body weight	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0001507	HP:0000002	Abnormality of body height	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001507	HP:0001510	Growth delay	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001507	HP:0004323	Abnormality of body weight	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001507	HP:0001510	Growth delay	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001507	HP:0000002	Abnormality of body height	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001507	HP:0001510	Growth delay	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001507	HP:0000002	Abnormality of body height	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0001507	HP:0001510	Growth delay	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0001507	HP:0004323	Abnormality of body weight	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0001507	HP:0001510	Growth delay	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0001507	HP:0004323	Abnormality of body weight	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0001507	HP:0001510	Growth delay	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0001507	HP:0004323	Abnormality of body weight	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0001507	HP:0000002	Abnormality of body height	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0001510	Growth delay	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0004323	Abnormality of body weight	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0000002	Abnormality of body height	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0001507	HP:0001510	Growth delay	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0001507	HP:0004323	Abnormality of body weight	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0001507	HP:0004323	Abnormality of body weight	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0001507	HP:0000002	Abnormality of body height	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0001507	HP:0000002	Abnormality of body height	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0001507	HP:0001510	Growth delay	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0001507	HP:0001510	Growth delay	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0001507	HP:0000002	Abnormality of body height	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0001507	HP:0001510	Growth delay	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0001507	HP:0004323	Abnormality of body weight	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001507	HP:0001510	Growth delay	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001507	HP:0004323	Abnormality of body weight	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0001507	HP:0000002	Abnormality of body height	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001507	HP:0001510	Growth delay	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001507	HP:0004323	Abnormality of body weight	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001507	HP:0004323	Abnormality of body weight	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001507	HP:0004323	Abnormality of body weight	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0001507	HP:0000002	Abnormality of body height	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001507	HP:0001510	Growth delay	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001507	HP:0100555	Asymmetric growth	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001507	HP:0004323	Abnormality of body weight	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001507	HP:0004323	Abnormality of body weight	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001507	HP:0001510	Growth delay	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0001507	HP:0000002	Abnormality of body height	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0001507	HP:0001510	Growth delay	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0001507	HP:0000002	Abnormality of body height	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0001507	HP:0001510	Growth delay	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0001507	HP:0004323	Abnormality of body weight	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0001507	HP:0001510	Growth delay	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0001507	HP:0001510	Growth delay	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040282 - Frequent		8
HP:0001507	HP:0001510	Growth delay	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.		8
HP:0001507	HP:0004323	Abnormality of body weight	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease			8
HP:0001507	HP:0004323	Abnormality of body weight	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0001507	HP:0000002	Abnormality of body height	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0001507	HP:0004323	Abnormality of body weight	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0001507	HP:0004323	Abnormality of body weight	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0001507	HP:0000002	Abnormality of body height	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0001507	HP:0001510	Growth delay	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		4
HP:0001507	HP:0001510	Growth delay	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0004323	Abnormality of body weight	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0000002	Abnormality of body height	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0001507	HP:0001510	Growth delay	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent		34
HP:0001507	HP:0000002	Abnormality of body height	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0001507	HP:0001510	Growth delay	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0001507	HP:0001510	Growth delay	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0001507	HP:0001510	Growth delay	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional		34
HP:0001507	HP:0100555	Asymmetric growth	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0001507	HP:0000002	Abnormality of body height	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0001507	HP:0001510	Growth delay	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0001507	HP:0004323	Abnormality of body weight	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0001507	HP:0000002	Abnormality of body height	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001507	HP:0001510	Growth delay	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001507	HP:0004323	Abnormality of body weight	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001507	HP:0001510	Growth delay	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0001507	HP:0001510	Growth delay	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0001507	HP:0004323	Abnormality of body weight	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0001507	HP:0000002	Abnormality of body height	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0001510	Growth delay	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0001510	Growth delay	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0001507	HP:0004323	Abnormality of body weight	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001507	HP:0004323	Abnormality of body weight	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001507	HP:0004323	Abnormality of body weight	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0001507	HP:0000002	Abnormality of body height	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001507	HP:0001510	Growth delay	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001507	HP:0004323	Abnormality of body weight	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001507	HP:0000002	Abnormality of body height	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0001507	HP:0001510	Growth delay	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0001507	HP:0000002	Abnormality of body height	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001507	HP:0001510	Growth delay	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001507	HP:0004323	Abnormality of body weight	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001507	HP:0000002	Abnormality of body height	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0001507	HP:0001510	Growth delay	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0001507	HP:0004323	Abnormality of body weight	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0001507	HP:0004323	Abnormality of body weight	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0001507	HP:0004323	Abnormality of body weight	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0001507	HP:0000002	Abnormality of body height	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0001507	HP:0001510	Growth delay	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0001507	HP:0004323	Abnormality of body weight	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0001507	HP:0004323	Abnormality of body weight	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0001507	HP:0000002	Abnormality of body height	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0001507	HP:0001510	Growth delay	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0001507	HP:0004323	Abnormality of body weight	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0001507	HP:0004323	Abnormality of body weight	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0001507	HP:0001510	Growth delay	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001507	HP:0004323	Abnormality of body weight	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001507	HP:0004323	Abnormality of body weight	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0001507	HP:0001510	Growth delay	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0001507	HP:0000002	Abnormality of body height	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0001507	HP:0001510	Growth delay	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0001507	HP:0004323	Abnormality of body weight	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0001507	HP:0004323	Abnormality of body weight	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0001507	HP:0000002	Abnormality of body height	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0001507	HP:0001510	Growth delay	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0001507	HP:0000002	Abnormality of body height	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001507	HP:0001510	Growth delay	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001507	HP:0000002	Abnormality of body height	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001507	HP:0001510	Growth delay	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001507	HP:0000002	Abnormality of body height	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001507	HP:0001510	Growth delay	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001507	HP:0001510	Growth delay	1	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2			16
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0001507	HP:0000002	Abnormality of body height	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0001507	HP:0001510	Growth delay	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0001507	HP:0000002	Abnormality of body height	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001507	HP:0001510	Growth delay	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0001507	HP:0000002	Abnormality of body height	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0001507	HP:0001510	Growth delay	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0001507	HP:0000002	Abnormality of body height	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0001507	HP:0001510	Growth delay	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0001507	HP:0000002	Abnormality of body height	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001507	HP:0001510	Growth delay	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001507	HP:0004323	Abnormality of body weight	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0001507	HP:0000002	Abnormality of body height	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0001507	HP:0001510	Growth delay	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0001507	HP:0000002	Abnormality of body height	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0001507	HP:0000002	Abnormality of body height	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0001507	HP:0001510	Growth delay	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0001507	HP:0001510	Growth delay	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0001507	HP:0000002	Abnormality of body height	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0001507	HP:0001510	Growth delay	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0001507	HP:0004323	Abnormality of body weight	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0001507	HP:0000002	Abnormality of body height	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0001507	HP:0001510	Growth delay	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0001507	HP:0001510	Growth delay	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0001507	HP:0001510	Growth delay	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001507	HP:0004323	Abnormality of body weight	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001507	HP:0000002	Abnormality of body height	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5			2
HP:0001507	HP:0001510	Growth delay	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5			2
HP:0001507	HP:0000002	Abnormality of body height	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001507	HP:0001510	Growth delay	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001507	HP:0004323	Abnormality of body weight	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001507	HP:0000002	Abnormality of body height	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal			3
HP:0001507	HP:0001510	Growth delay	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal			3
HP:0001507	HP:0000002	Abnormality of body height	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001507	HP:0001510	Growth delay	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001507	HP:0000002	Abnormality of body height	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001507	HP:0001510	Growth delay	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001507	HP:0004323	Abnormality of body weight	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001507	HP:0004323	Abnormality of body weight	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001507	HP:0004323	Abnormality of body weight	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001507	HP:0000002	Abnormality of body height	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001507	HP:0001510	Growth delay	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001507	HP:0004323	Abnormality of body weight	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001507	HP:0001510	Growth delay	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0001507	HP:0004323	Abnormality of body weight	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0001507	HP:0000002	Abnormality of body height	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0001510	Growth delay	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0000002	Abnormality of body height	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0001507	HP:0001510	Growth delay	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0001507	HP:0004323	Abnormality of body weight	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0001507	HP:0000002	Abnormality of body height	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001507	HP:0001510	Growth delay	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001507	HP:0004323	Abnormality of body weight	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0001507	HP:0004323	Abnormality of body weight	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0004323	Abnormality of body weight	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001507	HP:0000002	Abnormality of body height	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0001507	HP:0001510	Growth delay	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0001507	HP:0000002	Abnormality of body height	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0001507	HP:0001510	Growth delay	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0001507	HP:0000002	Abnormality of body height	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0001507	HP:0001510	Growth delay	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0001507	HP:0004323	Abnormality of body weight	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0001507	HP:0004323	Abnormality of body weight	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0001507	HP:0000002	Abnormality of body height	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0001507	HP:0001510	Growth delay	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0001507	HP:0000002	Abnormality of body height	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0001507	HP:0001510	Growth delay	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0001507	HP:0001510	Growth delay	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001507	HP:0004323	Abnormality of body weight	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001507	HP:0004323	Abnormality of body weight	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0001507	HP:0000002	Abnormality of body height	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001507	HP:0001510	Growth delay	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001507	HP:0004323	Abnormality of body weight	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001507	HP:0000002	Abnormality of body height	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0001510	Growth delay	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0004323	Abnormality of body weight	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0000002	Abnormality of body height	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0001507	HP:0100555	Asymmetric growth	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0001507	HP:0100555	Asymmetric growth	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0001507	HP:0000002	Abnormality of body height	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001507	HP:0001510	Growth delay	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001507	HP:0001510	Growth delay	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0001507	HP:0004323	Abnormality of body weight	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0001507	HP:0004323	Abnormality of body weight	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0001507	HP:0001510	Growth delay	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0001507	HP:0000002	Abnormality of body height	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0001507	HP:0001510	Growth delay	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0001507	HP:0004323	Abnormality of body weight	1	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia			2
HP:0001507	HP:0004323	Abnormality of body weight	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0001507	HP:0001510	Growth delay	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0001507	HP:0004323	Abnormality of body weight	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0001507	HP:0001510	Growth delay	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.		134
HP:0001507	HP:0004323	Abnormality of body weight	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0001507	HP:0004323	Abnormality of body weight	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0001507	HP:0000002	Abnormality of body height	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001507	HP:0000002	Abnormality of body height	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0001507	HP:0001510	Growth delay	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0004323	Abnormality of body weight	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0001507	HP:0000002	Abnormality of body height	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0001507	HP:0001510	Growth delay	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0001507	HP:0004323	Abnormality of body weight	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0001507	HP:0000002	Abnormality of body height	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001507	HP:0001510	Growth delay	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001507	HP:0000002	Abnormality of body height	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0001507	HP:0001510	Growth delay	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0004323	Abnormality of body weight	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0001507	HP:0000002	Abnormality of body height	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0001507	HP:0001510	Growth delay	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0004323	Abnormality of body weight	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0001507	HP:0000002	Abnormality of body height	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0001507	HP:0001510	Growth delay	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0001507	HP:0000002	Abnormality of body height	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			67
HP:0001507	HP:0001510	Growth delay	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome			67
HP:0001507	HP:0001510	Growth delay	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001507	HP:0000002	Abnormality of body height	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0001507	HP:0001510	Growth delay	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0001507	HP:0000002	Abnormality of body height	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0001510	Growth delay	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0004323	Abnormality of body weight	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0000002	Abnormality of body height	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0001507	HP:0000002	Abnormality of body height	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0001507	HP:0001510	Growth delay	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0001507	HP:0001510	Growth delay	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0001507	HP:0000002	Abnormality of body height	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0001507	HP:0001510	Growth delay	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0001507	HP:0000002	Abnormality of body height	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0001507	HP:0001510	Growth delay	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0001507	HP:0000002	Abnormality of body height	1	SHOX CL E G H	6473	10853	OMIM:300582	SHORT STATURE, IDIOPATHIC, X-LINKED; ISS			66
HP:0001507	HP:0001510	Growth delay	1	SHOX CL E G H	6473	10853	OMIM:300582	SHORT STATURE, IDIOPATHIC, X-LINKED; ISS			66
HP:0001507	HP:0000002	Abnormality of body height	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0001507	HP:0001510	Growth delay	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0001507	HP:0004323	Abnormality of body weight	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0001507	HP:0000002	Abnormality of body height	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001507	HP:0001510	Growth delay	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001507	HP:0001510	Growth delay	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001507	HP:0000002	Abnormality of body height	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0001507	HP:0001510	Growth delay	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0001507	HP:0004323	Abnormality of body weight	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0001507	HP:0004323	Abnormality of body weight	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0001507	HP:0004323	Abnormality of body weight	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001507	HP:0000002	Abnormality of body height	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001507	HP:0001510	Growth delay	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001507	HP:0000002	Abnormality of body height	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0001507	HP:0001510	Growth delay	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0001507	HP:0000002	Abnormality of body height	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0001507	HP:0001510	Growth delay	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0001507	HP:0004323	Abnormality of body weight	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0001507	HP:0004323	Abnormality of body weight	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0001507	HP:0004323	Abnormality of body weight	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0001507	HP:0004323	Abnormality of body weight	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0001507	HP:0000002	Abnormality of body height	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0001507	HP:0001510	Growth delay	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0001510	Growth delay	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0001507	HP:0001510	Growth delay	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0001507	HP:0004323	Abnormality of body weight	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0001507	HP:0000002	Abnormality of body height	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0001507	HP:0001510	Growth delay	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0001507	HP:0000002	Abnormality of body height	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001507	HP:0001510	Growth delay	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001507	HP:0100555	Asymmetric growth	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001507	HP:0004323	Abnormality of body weight	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001507	HP:0004323	Abnormality of body weight	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0001507	HP:0000002	Abnormality of body height	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0001510	Growth delay	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0004323	Abnormality of body weight	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0001510	Growth delay	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0001507	HP:0004323	Abnormality of body weight	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0001507	HP:0000002	Abnormality of body height	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0001510	Growth delay	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0004323	Abnormality of body weight	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0000002	Abnormality of body height	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001507	HP:0001510	Growth delay	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001507	HP:0004323	Abnormality of body weight	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001507	HP:0001510	Growth delay	1	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary	.		6
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary			6
HP:0001507	HP:0000002	Abnormality of body height	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001507	HP:0001510	Growth delay	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis			2
HP:0001507	HP:0000002	Abnormality of body height	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001507	HP:0001510	Growth delay	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001507	HP:0001510	Growth delay	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001507	HP:0001510	Growth delay	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0001507	HP:0000002	Abnormality of body height	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0001507	HP:0001510	Growth delay	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0001507	HP:0000002	Abnormality of body height	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001507	HP:0001510	Growth delay	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001507	HP:0000002	Abnormality of body height	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001507	HP:0001510	Growth delay	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0001507	HP:0001510	Growth delay	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0001507	HP:0001510	Growth delay	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001507	HP:0000002	Abnormality of body height	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001507	HP:0000002	Abnormality of body height	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001507	HP:0001510	Growth delay	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001507	HP:0001510	Growth delay	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001507	HP:0000002	Abnormality of body height	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001510	Growth delay	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0001507	HP:0001510	Growth delay	1	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis			70
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001507	HP:0001510	Growth delay	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0001507	HP:0001510	Growth delay	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.		82
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0001507	HP:0001510	Growth delay	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001507	HP:0000002	Abnormality of body height	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0001510	Growth delay	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0001507	HP:0001510	Growth delay	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0001507	HP:0001510	Growth delay	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4			166
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0001507	HP:0001510	Growth delay	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0001507	HP:0001510	Growth delay	1	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		274
HP:0001507	HP:0000002	Abnormality of body height	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0001507	HP:0001510	Growth delay	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		274
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0001507	HP:0000002	Abnormality of body height	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0001507	HP:0001510	Growth delay	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0001507	HP:0000002	Abnormality of body height	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0001507	HP:0001510	Growth delay	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0001507	HP:0000002	Abnormality of body height	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001507	HP:0001510	Growth delay	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001507	HP:0000002	Abnormality of body height	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001507	HP:0001510	Growth delay	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0001507	HP:0000002	Abnormality of body height	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0001507	HP:0001510	Growth delay	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent			71
HP:0001507	HP:0001510	Growth delay	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0001510	Growth delay	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0001507	HP:0001510	Growth delay	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0001507	HP:0000002	Abnormality of body height	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0001507	HP:0001510	Growth delay	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		47
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2			47
HP:0001507	HP:0001510	Growth delay	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		47
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001507	HP:0000002	Abnormality of body height	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0001507	HP:0001510	Growth delay	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		52
HP:0001507	HP:0001510	Growth delay	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0001507	HP:0001510	Growth delay	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001507	HP:0000002	Abnormality of body height	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001507	HP:0001510	Growth delay	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001507	HP:0000002	Abnormality of body height	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0001507	HP:0001510	Growth delay	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0001507	HP:0000002	Abnormality of body height	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0001507	HP:0001510	Growth delay	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0001507	HP:0000002	Abnormality of body height	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001507	HP:0000002	Abnormality of body height	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001507	HP:0001510	Growth delay	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001507	HP:0001510	Growth delay	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001507	HP:0000002	Abnormality of body height	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0001507	HP:0001510	Growth delay	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent		110
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0001507	HP:0000002	Abnormality of body height	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0001507	HP:0001510	Growth delay	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0001507	HP:0001510	Growth delay	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0001507	HP:0000002	Abnormality of body height	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0000002	Abnormality of body height	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0001507	HP:0001510	Growth delay	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0001507	HP:0000002	Abnormality of body height	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0001507	HP:0001510	Growth delay	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0001507	HP:0000002	Abnormality of body height	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0001507	HP:0001510	Growth delay	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0001507	HP:0000002	Abnormality of body height	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0001507	HP:0001510	Growth delay	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001507	HP:0000002	Abnormality of body height	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0001507	HP:0001510	Growth delay	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0001507	HP:0000002	Abnormality of body height	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001507	HP:0001510	Growth delay	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001507	HP:0001510	Growth delay	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0001507	HP:0001510	Growth delay	1	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		55
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0001507	HP:0001510	Growth delay	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		109
HP:0001507	HP:0000002	Abnormality of body height	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001507	HP:0001510	Growth delay	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001507	HP:0000002	Abnormality of body height	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0001507	HP:0001510	Growth delay	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.		89
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption			74
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0001507	HP:0001510	Growth delay	1	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria			41
HP:0001507	HP:0001510	Growth delay	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.		59
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0000002	Abnormality of body height	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0001507	HP:0001510	Growth delay	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0001507	HP:0000002	Abnormality of body height	1	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder			12
HP:0001507	HP:0001510	Growth delay	1	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder			12
HP:0001507	HP:0000002	Abnormality of body height	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0001507	HP:0001510	Growth delay	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0001507	HP:0000002	Abnormality of body height	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0001507	HP:0001510	Growth delay	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0001507	HP:0000002	Abnormality of body height	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001507	HP:0001510	Growth delay	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001507	HP:0000002	Abnormality of body height	1	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0001507	HP:0001510	Growth delay	1	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0001507	HP:0004323	Abnormality of body weight	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0001507	HP:0000002	Abnormality of body height	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001507	HP:0001510	Growth delay	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001507	HP:0004323	Abnormality of body weight	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001507	HP:0000002	Abnormality of body height	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0001507	HP:0001510	Growth delay	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.		274
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001507	HP:0001510	Growth delay	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001507	HP:0030853	Heterotaxy	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001507	HP:0004323	Abnormality of body weight	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0001507	HP:0001510	Growth delay	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional		504
HP:0001507	HP:0004323	Abnormality of body weight	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0001507	HP:0000002	Abnormality of body height	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0001510	Growth delay	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0001507	HP:0001510	Growth delay	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0004323	Abnormality of body weight	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0001510	Growth delay	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0001507	HP:0000002	Abnormality of body height	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0000002	Abnormality of body height	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0001510	Growth delay	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0001507	HP:0001510	Growth delay	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0004323	Abnormality of body weight	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0001510	Growth delay	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0001507	HP:0000002	Abnormality of body height	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0001507	HP:0001510	Growth delay	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0001507	HP:0000002	Abnormality of body height	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0001510	Growth delay	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0004323	Abnormality of body weight	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0000002	Abnormality of body height	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0001507	HP:0001510	Growth delay	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0001507	HP:0004323	Abnormality of body weight	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0001507	HP:0001510	Growth delay	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0001507	HP:0000002	Abnormality of body height	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0001507	HP:0001510	Growth delay	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0001507	HP:0004323	Abnormality of body weight	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0001507	HP:0001510	Growth delay	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0001507	HP:0001510	Growth delay	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001507	HP:0001510	Growth delay	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0001507	HP:0000002	Abnormality of body height	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001507	HP:0001510	Growth delay	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001507	HP:0004323	Abnormality of body weight	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0001507	HP:0001510	Growth delay	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0001507	HP:0000002	Abnormality of body height	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0001510	Growth delay	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0004323	Abnormality of body weight	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0000002	Abnormality of body height	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001507	HP:0001510	Growth delay	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001507	HP:0001510	Growth delay	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001507	HP:0000002	Abnormality of body height	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0001507	HP:0001510	Growth delay	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		135
HP:0001507	HP:0004323	Abnormality of body weight	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0001507	HP:0000002	Abnormality of body height	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0001510	Growth delay	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0004323	Abnormality of body weight	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0000002	Abnormality of body height	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001507	HP:0001510	Growth delay	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001507	HP:0000002	Abnormality of body height	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001507	HP:0001510	Growth delay	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001507	HP:0000002	Abnormality of body height	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001507	HP:0001510	Growth delay	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001507	HP:0001510	Growth delay	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.		2
HP:0001507	HP:0000002	Abnormality of body height	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0001507	HP:0001510	Growth delay	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0001507	HP:0004323	Abnormality of body weight	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0001507	HP:0000002	Abnormality of body height	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0001507	HP:0001510	Growth delay	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0001507	HP:0004323	Abnormality of body weight	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0001507	HP:0000002	Abnormality of body height	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0001507	HP:0001510	Growth delay	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0001507	HP:0001510	Growth delay	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0001507	HP:0004323	Abnormality of body weight	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0001507	HP:0000002	Abnormality of body height	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0001507	HP:0001510	Growth delay	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0001507	HP:0000002	Abnormality of body height	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001507	HP:0001510	Growth delay	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001507	HP:0004323	Abnormality of body weight	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001507	HP:0000002	Abnormality of body height	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0001507	HP:0001510	Growth delay	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0001507	HP:0000002	Abnormality of body height	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001507	HP:0001510	Growth delay	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001507	HP:0000002	Abnormality of body height	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0001507	HP:0001510	Growth delay	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0001507	HP:0000002	Abnormality of body height	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0001507	HP:0001510	Growth delay	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0001507	HP:0000002	Abnormality of body height	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0001507	HP:0001510	Growth delay	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0001507	HP:0004323	Abnormality of body weight	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0001507	HP:0004323	Abnormality of body weight	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0001507	HP:0004323	Abnormality of body weight	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4			65
HP:0001507	HP:0000002	Abnormality of body height	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001510	Growth delay	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001510	Growth delay	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0001507	HP:0000002	Abnormality of body height	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0001507	HP:0001510	Growth delay	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001507	HP:0001510	Growth delay	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0001507	HP:0000002	Abnormality of body height	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001507	HP:0001510	Growth delay	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001507	HP:0000002	Abnormality of body height	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001507	HP:0001510	Growth delay	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001507	HP:0000002	Abnormality of body height	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001507	HP:0001510	Growth delay	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001507	HP:0000002	Abnormality of body height	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001507	HP:0001510	Growth delay	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001507	HP:0000002	Abnormality of body height	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001507	HP:0001510	Growth delay	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001507	HP:0004323	Abnormality of body weight	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001507	HP:0001510	Growth delay	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0001507	HP:0000002	Abnormality of body height	1	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5			3
HP:0001507	HP:0001510	Growth delay	1	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5			3
HP:0001507	HP:0000002	Abnormality of body height	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001507	HP:0001510	Growth delay	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001507	HP:0004323	Abnormality of body weight	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001507	HP:0000002	Abnormality of body height	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0001510	Growth delay	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0004323	Abnormality of body weight	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0000002	Abnormality of body height	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001507	HP:0001510	Growth delay	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001507	HP:0000002	Abnormality of body height	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001507	HP:0001510	Growth delay	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001507	HP:0004323	Abnormality of body weight	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001507	HP:0000002	Abnormality of body height	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001507	HP:0001510	Growth delay	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001507	HP:0000002	Abnormality of body height	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001507	HP:0001510	Growth delay	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001507	HP:0000002	Abnormality of body height	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0001507	HP:0001510	Growth delay	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0001507	HP:0000002	Abnormality of body height	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0001507	HP:0001510	Growth delay	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0001507	HP:0000002	Abnormality of body height	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0001507	HP:0000002	Abnormality of body height	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0001507	HP:0001510	Growth delay	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0001507	HP:0004323	Abnormality of body weight	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0001507	HP:0001510	Growth delay	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001507	HP:0001510	Growth delay	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0000002	Abnormality of body height	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0001507	HP:0001510	Growth delay	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0001507	HP:0001510	Growth delay	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0001507	HP:0000002	Abnormality of body height	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0001507	HP:0001510	Growth delay	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0001507	HP:0000002	Abnormality of body height	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0001507	HP:0001510	Growth delay	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0001507	HP:0004323	Abnormality of body weight	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0001507	HP:0000002	Abnormality of body height	1	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency			24
HP:0001507	HP:0001510	Growth delay	1	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency			24
HP:0001507	HP:0000002	Abnormality of body height	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0001507	HP:0001510	Growth delay	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		24
HP:0001507	HP:0000002	Abnormality of body height	1	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked			24
HP:0001507	HP:0001510	Growth delay	1	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked			24
HP:0001507	HP:0000002	Abnormality of body height	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0001507	HP:0001510	Growth delay	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0001507	HP:0004323	Abnormality of body weight	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0001507	HP:0000002	Abnormality of body height	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0001507	HP:0001510	Growth delay	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0001507	HP:0001510	Growth delay	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001510	Growth delay	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0001507	HP:0000002	Abnormality of body height	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0001507	HP:0000002	Abnormality of body height	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001507	HP:0001510	Growth delay	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0001507	HP:0001510	Growth delay	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001507	HP:0004323	Abnormality of body weight	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001507	HP:0004323	Abnormality of body weight	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0001507	HP:0000002	Abnormality of body height	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0001507	HP:0001510	Growth delay	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0001507	HP:0000002	Abnormality of body height	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0001507	HP:0001510	Growth delay	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0001507	HP:0000002	Abnormality of body height	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0001507	HP:0001510	Growth delay	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0001507	HP:0000002	Abnormality of body height	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0001507	HP:0001510	Growth delay	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0001507	HP:0000002	Abnormality of body height	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0001507	HP:0001510	Growth delay	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0001507	HP:0004323	Abnormality of body weight	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0001507	HP:0004323	Abnormality of body weight	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0000002	Abnormality of body height	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001507	HP:0001510	Growth delay	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001507	HP:0000002	Abnormality of body height	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001507	HP:0001510	Growth delay	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001507	HP:0100555	Asymmetric growth	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001507	HP:0004323	Abnormality of body weight	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0001507	HP:0004323	Abnormality of body weight	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0001507	HP:0004323	Abnormality of body weight	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0001507	HP:0000002	Abnormality of body height	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0001507	HP:0001510	Growth delay	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0001507	HP:0001510	Growth delay	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9			2
HP:0001507	HP:0004323	Abnormality of body weight	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0001507	HP:0000002	Abnormality of body height	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0001507	HP:0001510	Growth delay	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0001507	HP:0004323	Abnormality of body weight	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0001507	HP:0004323	Abnormality of body weight	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001507	HP:0001510	Growth delay	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040283 - Occasional		28
HP:0001507	HP:0004323	Abnormality of body weight	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0001507	HP:0001510	Growth delay	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0001507	HP:0000002	Abnormality of body height	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001507	HP:0001510	Growth delay	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001507	HP:0000002	Abnormality of body height	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001507	HP:0001510	Growth delay	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001507	HP:0001510	Growth delay	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001507	HP:0000002	Abnormality of body height	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0001507	HP:0001510	Growth delay	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0001507	HP:0004323	Abnormality of body weight	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0001507	HP:0001510	Growth delay	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		5
HP:0001507	HP:0001510	Growth delay	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0001507	HP:0004323	Abnormality of body weight	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0001507	HP:0001510	Growth delay	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001507	HP:0001510	Growth delay	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		228
HP:0001507	HP:0001510	Growth delay	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001507	HP:0001510	Growth delay	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		156
HP:0001507	HP:0001510	Growth delay	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0004323	Abnormality of body weight	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0004323	Abnormality of body weight	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0001507	HP:0000002	Abnormality of body height	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001507	HP:0000002	Abnormality of body height	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001507	HP:0001510	Growth delay	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0001507	HP:0001510	Growth delay	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001507	HP:0004323	Abnormality of body weight	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001507	HP:0004323	Abnormality of body weight	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0001507	HP:0000002	Abnormality of body height	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0001510	Growth delay	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0000002	Abnormality of body height	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001507	HP:0001510	Growth delay	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001507	HP:0000002	Abnormality of body height	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001507	HP:0001510	Growth delay	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004323	Abnormality of body weight	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001507	HP:0001510	Growth delay	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001507	HP:0004323	Abnormality of body weight	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001507	HP:0001510	Growth delay	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0001507	HP:0004323	Abnormality of body weight	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0001507	HP:0000002	Abnormality of body height	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001507	HP:0001510	Growth delay	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001507	HP:0004323	Abnormality of body weight	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001507	HP:0001510	Growth delay	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0001507	HP:0000002	Abnormality of body height	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1			23
HP:0001507	HP:0000002	Abnormality of body height	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1			23
HP:0001507	HP:0004323	Abnormality of body weight	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0001507	HP:0004323	Abnormality of body weight	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0001507	HP:0004323	Abnormality of body weight	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0001507	HP:0000002	Abnormality of body height	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0001507	HP:0001510	Growth delay	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0001507	HP:0000002	Abnormality of body height	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0001507	HP:0001510	Growth delay	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0001507	HP:0001510	Growth delay	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001507	HP:0004323	Abnormality of body weight	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001507	HP:0000002	Abnormality of body height	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0001507	HP:0001510	Growth delay	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0001507	HP:0004323	Abnormality of body weight	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0001510	Growth delay	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0000002	Abnormality of body height	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001507	HP:0001510	Growth delay	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001507	HP:0004323	Abnormality of body weight	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001507	HP:0000002	Abnormality of body height	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0001510	Growth delay	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0000002	Abnormality of body height	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0001507	HP:0001510	Growth delay	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001507	HP:0001510	Growth delay	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001507	HP:0004323	Abnormality of body weight	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001507	HP:0000002	Abnormality of body height	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0001507	HP:0004323	Abnormality of body weight	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0001507	HP:0000002	Abnormality of body height	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001507	HP:0001510	Growth delay	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent		89
HP:0001507	HP:0000002	Abnormality of body height	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001507	HP:0001510	Growth delay	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0001507	HP:0000002	Abnormality of body height	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001507	HP:0001510	Growth delay	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001507	HP:0001510	Growth delay	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0001507	HP:0001510	Growth delay	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0001510	Growth delay	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001507	HP:0000002	Abnormality of body height	1	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0001507	HP:0001510	Growth delay	1	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0001507	HP:0000002	Abnormality of body height	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0001510	Growth delay	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0004323	Abnormality of body weight	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0001507	HP:0001510	Growth delay	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	HP:0040283 - Occasional		1
HP:0001507	HP:0001510	Growth delay	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional		1
HP:0001507	HP:0004323	Abnormality of body weight	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0001507	HP:0000002	Abnormality of body height	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0001507	HP:0001510	Growth delay	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0004323	Abnormality of body weight	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0001507	HP:0000002	Abnormality of body height	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0001507	HP:0001510	Growth delay	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0000002	Abnormality of body height	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0001507	HP:0001510	Growth delay	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0001507	HP:0004323	Abnormality of body weight	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0001507	HP:0000002	Abnormality of body height	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0001507	HP:0001510	Growth delay	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0004323	Abnormality of body weight	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0001507	HP:0000002	Abnormality of body height	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0001507	HP:0001510	Growth delay	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0004323	Abnormality of body weight	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0001507	HP:0000002	Abnormality of body height	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0001507	HP:0001510	Growth delay	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0001507	HP:0000002	Abnormality of body height	1	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0001507	HP:0001510	Growth delay	1	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0001507	HP:0004323	Abnormality of body weight	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001507	HP:0001510	Growth delay	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.		2
HP:0001507	HP:0001510	Growth delay	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0001507	HP:0004323	Abnormality of body weight	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0001507	HP:0001510	Growth delay	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0001507	HP:0004323	Abnormality of body weight	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0001507	HP:0000002	Abnormality of body height	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001507	HP:0001510	Growth delay	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001507	HP:0000002	Abnormality of body height	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001507	HP:0004323	Abnormality of body weight	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001507	HP:0004323	Abnormality of body weight	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0001507	HP:0001510	Growth delay	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0001507	HP:0004323	Abnormality of body weight	1	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw			21
HP:0001507	HP:0000002	Abnormality of body height	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0001507	HP:0001510	Growth delay	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0001507	HP:0004323	Abnormality of body weight	1	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0001507	HP:0001510	Growth delay	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0001507	HP:0004323	Abnormality of body weight	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0001507	HP:0001510	Growth delay	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0001507	HP:0004323	Abnormality of body weight	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0001507	HP:0001510	Growth delay	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0001507	HP:0004323	Abnormality of body weight	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0001507	HP:0000002	Abnormality of body height	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0001507	HP:0001510	Growth delay	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0001507	HP:0004323	Abnormality of body weight	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB			86
HP:0001507	HP:0004323	Abnormality of body weight	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0000002	Abnormality of body height	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0001507	HP:0000002	Abnormality of body height	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0001507	HP:0001510	Growth delay	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0001507	HP:0004323	Abnormality of body weight	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0001507	HP:0001510	Growth delay	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0001507	HP:0004323	Abnormality of body weight	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001507	HP:0001510	Growth delay	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001507	HP:0004323	Abnormality of body weight	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001507	HP:0000002	Abnormality of body height	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0001507	HP:0004323	Abnormality of body weight	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0001507	HP:0004323	Abnormality of body weight	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0001507	HP:0000002	Abnormality of body height	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001507	HP:0001510	Growth delay	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001507	HP:0004323	Abnormality of body weight	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0001507	HP:0004323	Abnormality of body weight	1	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III			8
HP:0001507	HP:0000002	Abnormality of body height	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0001507	HP:0001510	Growth delay	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0001507	HP:0000002	Abnormality of body height	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0001507	HP:0000002	Abnormality of body height	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0001507	HP:0001510	Growth delay	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0001507	HP:0001510	Growth delay	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0001507	HP:0004323	Abnormality of body weight	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0001507	HP:0004323	Abnormality of body weight	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001507	HP:0004323	Abnormality of body weight	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001507	HP:0000002	Abnormality of body height	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0001507	HP:0000002	Abnormality of body height	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0001507	HP:0004323	Abnormality of body weight	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001507	HP:0004323	Abnormality of body weight	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001507	HP:0001510	Growth delay	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001507	HP:0004323	Abnormality of body weight	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001507	HP:0004323	Abnormality of body weight	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001507	HP:0000002	Abnormality of body height	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001507	HP:0001510	Growth delay	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001507	HP:0004323	Abnormality of body weight	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001507	HP:0000002	Abnormality of body height	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001507	HP:0001510	Growth delay	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001507	HP:0004323	Abnormality of body weight	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001507	HP:0004323	Abnormality of body weight	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001507	HP:0000002	Abnormality of body height	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001507	HP:0001510	Growth delay	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001507	HP:0004323	Abnormality of body weight	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001507	HP:0000002	Abnormality of body height	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0001507	HP:0001510	Growth delay	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0001507	HP:0001510	Growth delay	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001507	HP:0000002	Abnormality of body height	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0001507	HP:0001510	Growth delay	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0001507	HP:0001510	Growth delay	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0004323	Abnormality of body weight	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0000002	Abnormality of body height	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0001507	HP:0001510	Growth delay	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0004323	Abnormality of body weight	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0001510	Growth delay	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0001507	HP:0001510	Growth delay	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0001507	HP:0004323	Abnormality of body weight	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0001507	HP:0000002	Abnormality of body height	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0001507	HP:0001510	Growth delay	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0000002	Abnormality of body height	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0001507	HP:0001510	Growth delay	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0001507	HP:0004323	Abnormality of body weight	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0001507	HP:0000002	Abnormality of body height	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0001507	HP:0001510	Growth delay	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0001507	HP:0001510	Growth delay	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001507	HP:0004323	Abnormality of body weight	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001507	HP:0001510	Growth delay	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001507	HP:0004323	Abnormality of body weight	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001507	HP:0000002	Abnormality of body height	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0001510	Growth delay	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0004323	Abnormality of body weight	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0001510	Growth delay	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001507	HP:0004323	Abnormality of body weight	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001507	HP:0001510	Growth delay	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001507	HP:0004323	Abnormality of body weight	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001507	HP:0001510	Growth delay	1	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.		43
HP:0001507	HP:0000002	Abnormality of body height	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0001507	HP:0001510	Growth delay	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0001507	HP:0000002	Abnormality of body height	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0001507	HP:0001510	Growth delay	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0001507	HP:0000002	Abnormality of body height	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0001507	HP:0001510	Growth delay	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0001507	HP:0004323	Abnormality of body weight	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0001507	HP:0004323	Abnormality of body weight	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0001507	HP:0001510	Growth delay	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040281 - Very frequent		16
HP:0001507	HP:0001510	Growth delay	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0001507	HP:0001510	Growth delay	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0001507	HP:0001510	Growth delay	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0001507	HP:0000002	Abnormality of body height	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0001507	HP:0001510	Growth delay	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0001507	HP:0000002	Abnormality of body height	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0001507	HP:0001510	Growth delay	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0001507	HP:0004323	Abnormality of body weight	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0001507	HP:0000002	Abnormality of body height	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0001507	HP:0001510	Growth delay	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0001507	HP:0004323	Abnormality of body weight	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0001507	HP:0004323	Abnormality of body weight	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0001507	HP:0000002	Abnormality of body height	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0001507	HP:0000002	Abnormality of body height	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001507	HP:0001510	Growth delay	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001507	HP:0004323	Abnormality of body weight	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001507	HP:0001510	Growth delay	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0001507	HP:0000002	Abnormality of body height	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001507	HP:0001510	Growth delay	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001507	HP:0004323	Abnormality of body weight	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001507	HP:0001510	Growth delay	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0001507	HP:0000002	Abnormality of body height	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001507	HP:0001510	Growth delay	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001507	HP:0000002	Abnormality of body height	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0001507	HP:0001510	Growth delay	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0001507	HP:0001510	Growth delay	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0001507	HP:0000002	Abnormality of body height	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001507	HP:0001510	Growth delay	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001507	HP:0000002	Abnormality of body height	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0001507	HP:0001510	Growth delay	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0001507	HP:0000002	Abnormality of body height	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0001507	HP:0001510	Growth delay	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked			28
HP:0001507	HP:0000002	Abnormality of body height	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001507	HP:0001510	Growth delay	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001507	HP:0001510	Growth delay	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001507	HP:0004323	Abnormality of body weight	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001507	HP:0004323	Abnormality of body weight	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001507	HP:0000002	Abnormality of body height	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001507	HP:0001510	Growth delay	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001507	HP:0004323	Abnormality of body weight	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001507	HP:0000002	Abnormality of body height	1	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0001507	HP:0001510	Growth delay	1	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication			55
HP:0001507	HP:0000002	Abnormality of body height	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension			55
HP:0001507	HP:0001510	Growth delay	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension			55
HP:0001507	HP:0000002	Abnormality of body height	1	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis			19
HP:0001507	HP:0001510	Growth delay	1	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis			19
HP:0001507	HP:0000002	Abnormality of body height	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0001507	HP:0001510	Growth delay	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0001507	HP:0001510	Growth delay	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0001507	HP:0000002	Abnormality of body height	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0001507	HP:0004323	Abnormality of body weight	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0001507	HP:0001510	Growth delay	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0001507	HP:0004323	Abnormality of body weight	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0001507	HP:0004323	Abnormality of body weight	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0001507	HP:0004323	Abnormality of body weight	1	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0001507	HP:0001510	Growth delay	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0001507	HP:0000002	Abnormality of body height	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0001507	HP:0001510	Growth delay	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0001507	HP:0004323	Abnormality of body weight	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0001507	HP:0004323	Abnormality of body weight	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0001507	HP:0004323	Abnormality of body weight	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0001507	HP:0001510	Growth delay	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0001507	HP:0000002	Abnormality of body height	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0001507	HP:0001510	Growth delay	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV			31
HP:0001507	HP:0000002	Abnormality of body height	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001507	HP:0001510	Growth delay	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent		31
HP:0001507	HP:0004323	Abnormality of body weight	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001507	HP:0000002	Abnormality of body height	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0001507	HP:0001510	Growth delay	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0001507	HP:0004323	Abnormality of body weight	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0001507	HP:0000002	Abnormality of body height	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0001510	Growth delay	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0000002	Abnormality of body height	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0001507	HP:0001510	Growth delay	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0001507	HP:0000002	Abnormality of body height	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001507	HP:0001510	Growth delay	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001507	HP:0000002	Abnormality of body height	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0001507	HP:0001510	Growth delay	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0001507	HP:0000002	Abnormality of body height	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0001510	Growth delay	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0000002	Abnormality of body height	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0001507	HP:0001510	Growth delay	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0001507	HP:0000002	Abnormality of body height	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0001507	HP:0001510	Growth delay	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0001507	HP:0000002	Abnormality of body height	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0001507	HP:0001510	Growth delay	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0001507	HP:0000002	Abnormality of body height	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0001507	HP:0001510	Growth delay	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0001507	HP:0004323	Abnormality of body weight	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0001507	HP:0000002	Abnormality of body height	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0001507	HP:0001510	Growth delay	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0001507	HP:0000002	Abnormality of body height	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001507	HP:0001510	Growth delay	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001507	HP:0004323	Abnormality of body weight	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001507	HP:0000002	Abnormality of body height	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0001507	HP:0001510	Growth delay	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0001507	HP:0004323	Abnormality of body weight	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0001507	HP:0004323	Abnormality of body weight	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0001507	HP:0004323	Abnormality of body weight	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0001507	HP:0004323	Abnormality of body weight	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0001507	HP:0004323	Abnormality of body weight	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0001507	HP:0001510	Growth delay	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0001507	HP:0000002	Abnormality of body height	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0001507	HP:0001510	Growth delay	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0001507	HP:0001510	Growth delay	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0001507	HP:0004323	Abnormality of body weight	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001507	HP:0004323	Abnormality of body weight	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0001507	HP:0000002	Abnormality of body height	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001507	HP:0001510	Growth delay	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0001507	HP:0001510	Growth delay	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001507	HP:0000002	Abnormality of body height	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001507	HP:0000002	Abnormality of body height	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0001510	Growth delay	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001507	HP:0001510	Growth delay	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0004323	Abnormality of body weight	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001507	HP:0004323	Abnormality of body weight	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0004323	Abnormality of body weight	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001507	HP:0004323	Abnormality of body weight	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0001507	HP:0004323	Abnormality of body weight	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001507	HP:0000002	Abnormality of body height	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0001507	HP:0000002	Abnormality of body height	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001507	HP:0000002	Abnormality of body height	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0001507	HP:0000002	Abnormality of body height	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0001510	Growth delay	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0004323	Abnormality of body weight	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0000002	Abnormality of body height	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0001507	HP:0000002	Abnormality of body height	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0001507	HP:0000002	Abnormality of body height	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001507	HP:0000002	Abnormality of body height	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0001507	HP:0000002	Abnormality of body height	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0001507	HP:0000002	Abnormality of body height	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001507	HP:0004323	Abnormality of body weight	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0001507	HP:0000002	Abnormality of body height	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0001510	Growth delay	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004323	Abnormality of body weight	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0000002	Abnormality of body height	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0001507	HP:0001510	Growth delay	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0001507	HP:0004323	Abnormality of body weight	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0001507	HP:0000002	Abnormality of body height	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0001507	HP:0001510	Growth delay	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0001507	HP:0000002	Abnormality of body height	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001507	HP:0001510	Growth delay	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001507	HP:0000002	Abnormality of body height	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0001510	Growth delay	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0004323	Abnormality of body weight	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0000002	Abnormality of body height	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0001507	HP:0001510	Growth delay	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0001507	HP:0001510	Growth delay	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0001507	HP:0004323	Abnormality of body weight	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0001507	HP:0001510	Growth delay	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0001507	HP:0004323	Abnormality of body weight	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0001507	HP:0004323	Abnormality of body weight	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0001507	HP:0000002	Abnormality of body height	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001507	HP:0000002	Abnormality of body height	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0001507	HP:0001510	Growth delay	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0001507	HP:0001510	Growth delay	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0001507	HP:0001510	Growth delay	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001507	HP:0004323	Abnormality of body weight	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001507	HP:0000002	Abnormality of body height	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0001507	HP:0001510	Growth delay	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0001507	HP:0000002	Abnormality of body height	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0001507	HP:0001510	Growth delay	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0001507	HP:0000002	Abnormality of body height	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0001507	HP:0001510	Growth delay	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0001507	HP:0000002	Abnormality of body height	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0001507	HP:0001510	Growth delay	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0001507	HP:0004323	Abnormality of body weight	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0001507	HP:0001510	Growth delay	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0001507	HP:0004323	Abnormality of body weight	1	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial			149
HP:0001507	HP:0004323	Abnormality of body weight	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001507	HP:0004323	Abnormality of body weight	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001507	HP:0000002	Abnormality of body height	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001507	HP:0001510	Growth delay	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001507	HP:0000002	Abnormality of body height	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001507	HP:0001510	Growth delay	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001507	HP:0000002	Abnormality of body height	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001507	HP:0001510	Growth delay	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0001507	HP:0001510	Growth delay	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001507	HP:0000002	Abnormality of body height	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0001507	HP:0001510	Growth delay	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0001507	HP:0000002	Abnormality of body height	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001507	HP:0001510	Growth delay	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001507	HP:0001510	Growth delay	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0001507	HP:0000002	Abnormality of body height	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0001507	HP:0001510	Growth delay	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0001507	HP:0001510	Growth delay	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0001507	HP:0000002	Abnormality of body height	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0001507	HP:0001510	Growth delay	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001507	HP:0001510	Growth delay	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0001507	HP:0000002	Abnormality of body height	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0001507	HP:0001510	Growth delay	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001507	HP:0000002	Abnormality of body height	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001507	HP:0001510	Growth delay	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0001507	HP:0001510	Growth delay	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0001507	HP:0001510	Growth delay	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0001507	HP:0000002	Abnormality of body height	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0001507	HP:0000002	Abnormality of body height	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent		166
HP:0001507	HP:0001510	Growth delay	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0001507	HP:0001510	Growth delay	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001507	HP:0004323	Abnormality of body weight	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001507	HP:0001510	Growth delay	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0001507	HP:0004323	Abnormality of body weight	1	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency			5
HP:0001507	HP:0000002	Abnormality of body height	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0001507	HP:0001510	Growth delay	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0001507	HP:0000002	Abnormality of body height	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0001507	HP:0001510	Growth delay	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0001507	HP:0001510	Growth delay	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0001507	HP:0000002	Abnormality of body height	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0001507	HP:0001510	Growth delay	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0001507	HP:0000002	Abnormality of body height	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0001507	HP:0001510	Growth delay	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0001507	HP:0004323	Abnormality of body weight	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0001507	HP:0004323	Abnormality of body weight	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0004323	Abnormality of body weight	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0001507	HP:0001510	Growth delay	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0001507	HP:0004323	Abnormality of body weight	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0001507	HP:0000002	Abnormality of body height	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0001507	HP:0001510	Growth delay	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0001507	HP:0000002	Abnormality of body height	1	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0001507	HP:0001510	Growth delay	1	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome			37
HP:0001507	HP:0001510	Growth delay	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001507	HP:0001510	Growth delay	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001507	HP:0000002	Abnormality of body height	1	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0001507	HP:0001510	Growth delay	1	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome			43
HP:0001507	HP:0004323	Abnormality of body weight	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0001507	HP:0000002	Abnormality of body height	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001507	HP:0001510	Growth delay	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001507	HP:0004323	Abnormality of body weight	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001507	HP:0000002	Abnormality of body height	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001507	HP:0001510	Growth delay	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001510	Growth delay	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001507	HP:0004323	Abnormality of body weight	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001507	HP:0000002	Abnormality of body height	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0001510	Growth delay	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0100555	Asymmetric growth	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0004323	Abnormality of body weight	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0000002	Abnormality of body height	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001507	HP:0001510	Growth delay	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001507	HP:0000002	Abnormality of body height	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001507	HP:0001510	Growth delay	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001507	HP:0004323	Abnormality of body weight	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001507	HP:0000002	Abnormality of body height	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0001507	HP:0001510	Growth delay	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0001507	HP:0004323	Abnormality of body weight	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0001507	HP:0004323	Abnormality of body weight	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0001507	HP:0001510	Growth delay	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001507	HP:0004323	Abnormality of body weight	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0001507	HP:0000002	Abnormality of body height	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0001507	HP:0001510	Growth delay	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0001507	HP:0004323	Abnormality of body weight	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001507	HP:0004323	Abnormality of body weight	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0001507	HP:0004323	Abnormality of body weight	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0001507	HP:0000002	Abnormality of body height	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001510	Growth delay	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0001507	HP:0001510	Growth delay	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0001507	HP:0000002	Abnormality of body height	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0001507	HP:0001510	Growth delay	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0001507	HP:0004323	Abnormality of body weight	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001507	HP:0000002	Abnormality of body height	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0001507	HP:0001510	Growth delay	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0001507	HP:0004323	Abnormality of body weight	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001507	HP:0000002	Abnormality of body height	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0001507	HP:0001510	Growth delay	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A			54
HP:0001507	HP:0000002	Abnormality of body height	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001507	HP:0004323	Abnormality of body weight	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001507	HP:0004323	Abnormality of body weight	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001507	HP:0004323	Abnormality of body weight	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001507	HP:0000002	Abnormality of body height	1	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0001507	HP:0001510	Growth delay	1	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome			54
HP:0001507	HP:0000002	Abnormality of body height	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001507	HP:0004323	Abnormality of body weight	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001507	HP:0004323	Abnormality of body weight	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001507	HP:0004323	Abnormality of body weight	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001507	HP:0000002	Abnormality of body height	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001510	Growth delay	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY			1
HP:0001507	HP:0000002	Abnormality of body height	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0001507	HP:0001510	Growth delay	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0001507	HP:0000002	Abnormality of body height	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0001507	HP:0001510	Growth delay	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0001507	HP:0000002	Abnormality of body height	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001507	HP:0001510	Growth delay	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0001507	HP:0000002	Abnormality of body height	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0001507	HP:0001510	Growth delay	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0001507	HP:0001510	Growth delay	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0001507	HP:0001510	Growth delay	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0001507	HP:0001510	Growth delay	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0001507	HP:0001510	Growth delay	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0001507	HP:0001510	Growth delay	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0001507	HP:0001510	Growth delay	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0001507	HP:0000002	Abnormality of body height	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001507	HP:0001510	Growth delay	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0001507	HP:0004323	Abnormality of body weight	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0001507	HP:0000002	Abnormality of body height	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0001507	HP:0001510	Growth delay	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0001507	HP:0000002	Abnormality of body height	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001507	HP:0001510	Growth delay	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001507	HP:0000002	Abnormality of body height	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency			5
HP:0001507	HP:0001510	Growth delay	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency			5
HP:0001507	HP:0000002	Abnormality of body height	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0001507	HP:0001510	Growth delay	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0001507	HP:0001510	Growth delay	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004323	Abnormality of body weight	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0000002	Abnormality of body height	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0001507	HP:0001510	Growth delay	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11			108
HP:0001507	HP:0000002	Abnormality of body height	1	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8			108
HP:0001507	HP:0000002	Abnormality of body height	1	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0001507	HP:0000002	Abnormality of body height	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001507	HP:0001510	Growth delay	1	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0001507	HP:0001510	Growth delay	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001507	HP:0001510	Growth delay	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001507	HP:0001510	Growth delay	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001507	HP:0000002	Abnormality of body height	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001507	HP:0001510	Growth delay	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001507	HP:0000002	Abnormality of body height	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0001507	HP:0001510	Growth delay	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0001507	HP:0000002	Abnormality of body height	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0001507	HP:0001510	Growth delay	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0001507	HP:0000002	Abnormality of body height	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001507	HP:0001510	Growth delay	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0000002	Abnormality of body height	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0001507	HP:0001510	Growth delay	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	.		2
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0001510	Growth delay	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0001507	HP:0004323	Abnormality of body weight	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0001507	HP:0004323	Abnormality of body weight	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0001507	HP:0000002	Abnormality of body height	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0001507	HP:0001510	Growth delay	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0001507	HP:0000002	Abnormality of body height	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0001507	HP:0001510	Growth delay	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0001507	HP:0004323	Abnormality of body weight	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001507	HP:0000002	Abnormality of body height	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0001507	HP:0000002	Abnormality of body height	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0001507	HP:0000002	Abnormality of body height	1	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001507	HP:0000002	Abnormality of body height	1	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0001507	HP:0000002	Abnormality of body height	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0001507	HP:0000002	Abnormality of body height	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001507	HP:0000002	Abnormality of body height	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001507	HP:0000002	Abnormality of body height	1	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0001507	HP:0001510	Growth delay	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001507	HP:0001510	Growth delay	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001507	HP:0004323	Abnormality of body weight	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0001507	HP:0001510	Growth delay	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0001507	HP:0000002	Abnormality of body height	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0001507	HP:0001510	Growth delay	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		171
HP:0001507	HP:0000002	Abnormality of body height	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0001507	HP:0001510	Growth delay	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0001507	HP:0000002	Abnormality of body height	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0001507	HP:0001510	Growth delay	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia			214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia			214
HP:0001507	HP:0004323	Abnormality of body weight	1	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3			214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3			214
HP:0001507	HP:0100555	Asymmetric growth	1	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040281 - Very frequent		214
HP:0001507	HP:0001510	Growth delay	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0000002	Abnormality of body height	1	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0001507	HP:0001510	Growth delay	1	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0001507	HP:0000002	Abnormality of body height	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001507	HP:0001510	Growth delay	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001507	HP:0001510	Growth delay	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001507	HP:0001510	Growth delay	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0001507	HP:0001510	Growth delay	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0001507	HP:0004323	Abnormality of body weight	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0001507	HP:0000002	Abnormality of body height	1	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0001507	HP:0001510	Growth delay	1	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		97
HP:0001507	HP:0004323	Abnormality of body weight	1	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0001507	HP:0004323	Abnormality of body weight	1	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor			97
HP:0001507	HP:0004323	Abnormality of body weight	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0001507	HP:0000002	Abnormality of body height	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0001507	HP:0001510	Growth delay	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		97
HP:0001507	HP:0001510	Growth delay	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0001507	HP:0001510	Growth delay	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0000002	Abnormality of body height	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0001510	Growth delay	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0000002	Abnormality of body height	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome			132
HP:0001507	HP:0001510	Growth delay	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome			132
HP:0001507	HP:0000002	Abnormality of body height	1	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0001507	HP:0001510	Growth delay	1	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0001507	HP:0000002	Abnormality of body height	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001507	HP:0001510	Growth delay	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001507	HP:0004323	Abnormality of body weight	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001507	HP:0001510	Growth delay	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001507	HP:0001510	Growth delay	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001507	HP:0000002	Abnormality of body height	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0001507	HP:0001510	Growth delay	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0001507	HP:0004323	Abnormality of body weight	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0001507	HP:0004323	Abnormality of body weight	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0001507	HP:0004323	Abnormality of body weight	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0001507	HP:0000002	Abnormality of body height	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0001507	HP:0001510	Growth delay	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0001507	HP:0000002	Abnormality of body height	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0001507	HP:0001510	Growth delay	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0001507	HP:0000002	Abnormality of body height	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001507	HP:0001510	Growth delay	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001507	HP:0004323	Abnormality of body weight	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001507	HP:0004323	Abnormality of body weight	1	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis			107
HP:0001507	HP:0004323	Abnormality of body weight	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0001507	HP:0004323	Abnormality of body weight	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0001510	Growth delay	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001507	HP:0000002	Abnormality of body height	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0001507	HP:0001510	Growth delay	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0001507	HP:0100555	Asymmetric growth	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0001507	HP:0000002	Abnormality of body height	1	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0001507	HP:0001510	Growth delay	1	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0001507	HP:0001510	Growth delay	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0001507	HP:0000002	Abnormality of body height	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0001507	HP:0004323	Abnormality of body weight	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0001507	HP:0000002	Abnormality of body height	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0001507	HP:0001510	Growth delay	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0001507	HP:0004323	Abnormality of body weight	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0001507	HP:0000002	Abnormality of body height	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0001507	HP:0001510	Growth delay	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0001507	HP:0000002	Abnormality of body height	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0001507	HP:0001510	Growth delay	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0001507	HP:0000002	Abnormality of body height	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0001507	HP:0001510	Growth delay	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0001507	HP:0001510	Growth delay	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0001507	HP:0004323	Abnormality of body weight	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0001507	HP:0000002	Abnormality of body height	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0001507	HP:0000002	Abnormality of body height	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0001507	HP:0001510	Growth delay	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0001507	HP:0001510	Growth delay	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0001507	HP:0001510	Growth delay	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0004323	Abnormality of body weight	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001507	HP:0004323	Abnormality of body weight	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001507	HP:0000002	Abnormality of body height	1	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome			19
HP:0001507	HP:0000002	Abnormality of body height	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001507	HP:0001510	Growth delay	1	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome			19
HP:0001507	HP:0001510	Growth delay	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001507	HP:0000002	Abnormality of body height	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0001507	HP:0004323	Abnormality of body weight	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0001507	HP:0000002	Abnormality of body height	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0001507	HP:0004323	Abnormality of body weight	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0001507	HP:0004323	Abnormality of body weight	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0001507	HP:0000002	Abnormality of body height	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0001510	Growth delay	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0004323	Abnormality of body weight	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0000002	Abnormality of body height	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0001507	HP:0001510	Growth delay	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0001507	HP:0004323	Abnormality of body weight	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001507	HP:0000002	Abnormality of body height	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0001507	HP:0001510	Growth delay	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0001507	HP:0004323	Abnormality of body weight	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0001507	HP:0000002	Abnormality of body height	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0001510	Growth delay	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0004323	Abnormality of body weight	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0004323	Abnormality of body weight	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0001507	HP:0000002	Abnormality of body height	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001507	HP:0001510	Growth delay	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001507	HP:0000002	Abnormality of body height	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T			2
HP:0001507	HP:0001510	Growth delay	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T			2
HP:0001507	HP:0000002	Abnormality of body height	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0001507	HP:0001510	Growth delay	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0001507	HP:0000002	Abnormality of body height	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001507	HP:0001510	Growth delay	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001507	HP:0001510	Growth delay	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0001507	HP:0000002	Abnormality of body height	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0001507	HP:0001510	Growth delay	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0001507	HP:0000002	Abnormality of body height	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0100555	Asymmetric growth	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001507	HP:0000002	Abnormality of body height	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001507	HP:0001510	Growth delay	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001507	HP:0001510	Growth delay	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001507	HP:0004323	Abnormality of body weight	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001507	HP:0004323	Abnormality of body weight	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001507	HP:0000002	Abnormality of body height	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001507	HP:0001510	Growth delay	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001507	HP:0004323	Abnormality of body weight	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0001507	HP:0004323	Abnormality of body weight	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0001507	HP:0004323	Abnormality of body weight	1	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0001507	HP:0000002	Abnormality of body height	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0001507	HP:0001510	Growth delay	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0001507	HP:0004323	Abnormality of body weight	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0001507	HP:0000002	Abnormality of body height	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001510	Growth delay	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0001507	HP:0001510	Growth delay	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0001507	HP:0000002	Abnormality of body height	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0001507	HP:0001510	Growth delay	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0001507	HP:0004323	Abnormality of body weight	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001507	HP:0004323	Abnormality of body weight	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001507	HP:0004323	Abnormality of body weight	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001507	HP:0001510	Growth delay	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0004323	Abnormality of body weight	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0000002	Abnormality of body height	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0001507	HP:0001510	Growth delay	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0001507	HP:0004323	Abnormality of body weight	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0001507	HP:0000002	Abnormality of body height	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0001507	HP:0000002	Abnormality of body height	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0001507	HP:0004323	Abnormality of body weight	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0001507	HP:0001510	Growth delay	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001507	HP:0004323	Abnormality of body weight	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001507	HP:0001510	Growth delay	1	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.		6
HP:0001507	HP:0004323	Abnormality of body weight	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001507	HP:0001510	Growth delay	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001507	HP:0004323	Abnormality of body weight	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001507	HP:0000002	Abnormality of body height	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0001507	HP:0001510	Growth delay	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0001507	HP:0000002	Abnormality of body height	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0001507	HP:0001510	Growth delay	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0001507	HP:0000002	Abnormality of body height	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0001507	HP:0001510	Growth delay	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0001507	HP:0000002	Abnormality of body height	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0001507	HP:0001510	Growth delay	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0001507	HP:0000002	Abnormality of body height	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0001510	Growth delay	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0004323	Abnormality of body weight	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0001507	HP:0004323	Abnormality of body weight	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001507	HP:0000002	Abnormality of body height	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001507	HP:0001510	Growth delay	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001507	HP:0004323	Abnormality of body weight	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001507	HP:0004323	Abnormality of body weight	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0001507	HP:0000002	Abnormality of body height	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001507	HP:0001510	Growth delay	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001507	HP:0100555	Asymmetric growth	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001507	HP:0001510	Growth delay	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0001507	HP:0000002	Abnormality of body height	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001507	HP:0001510	Growth delay	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001507	HP:0000002	Abnormality of body height	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001507	HP:0001510	Growth delay	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001507	HP:0004323	Abnormality of body weight	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001507	HP:0001510	Growth delay	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0001507	HP:0001510	Growth delay	1	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0001507	HP:0004323	Abnormality of body weight	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001507	HP:0000002	Abnormality of body height	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001507	HP:0001510	Growth delay	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001507	HP:0000002	Abnormality of body height	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0001507	HP:0001510	Growth delay	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0001507	HP:0001510	Growth delay	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0001507	HP:0004323	Abnormality of body weight	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0001507	HP:0004323	Abnormality of body weight	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0001507	HP:0004323	Abnormality of body weight	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0001507	HP:0004323	Abnormality of body weight	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0001507	HP:0004323	Abnormality of body weight	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001507	HP:0000002	Abnormality of body height	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0001507	HP:0001510	Growth delay	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0001507	HP:0000002	Abnormality of body height	1	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0001507	HP:0001510	Growth delay	1	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0001507	HP:0001510	Growth delay	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001507	HP:0000002	Abnormality of body height	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0000002	Abnormality of body height	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001507	HP:0001510	Growth delay	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0001510	Growth delay	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001507	HP:0000002	Abnormality of body height	1	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0001507	HP:0001510	Growth delay	1	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0001507	HP:0001510	Growth delay	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0001507	HP:0000002	Abnormality of body height	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001507	HP:0001510	Growth delay	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001507	HP:0000002	Abnormality of body height	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001507	HP:0001510	Growth delay	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001507	HP:0004323	Abnormality of body weight	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001507	HP:0004323	Abnormality of body weight	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0001507	HP:0004323	Abnormality of body weight	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0001507	HP:0001510	Growth delay	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0001507	HP:0001510	Growth delay	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0001507	HP:0001510	Growth delay	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0001507	HP:0000002	Abnormality of body height	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0001507	HP:0001510	Growth delay	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0001507	HP:0000002	Abnormality of body height	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001507	HP:0001510	Growth delay	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001507	HP:0001510	Growth delay	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001507	HP:0000002	Abnormality of body height	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001507	HP:0001510	Growth delay	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001507	HP:0000002	Abnormality of body height	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0001507	HP:0001510	Growth delay	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0001507	HP:0004323	Abnormality of body weight	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0001507	HP:0001510	Growth delay	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0001507	HP:0000002	Abnormality of body height	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		10
HP:0001507	HP:0001510	Growth delay	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0001507	HP:0000002	Abnormality of body height	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0001507	HP:0001510	Growth delay	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0001507	HP:0000002	Abnormality of body height	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0001507	HP:0001510	Growth delay	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0001507	HP:0000002	Abnormality of body height	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0001507	HP:0001510	Growth delay	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0001507	HP:0000002	Abnormality of body height	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome			95
HP:0001507	HP:0001510	Growth delay	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome			95
HP:0001507	HP:0001510	Growth delay	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0001507	HP:0000002	Abnormality of body height	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0001507	HP:0001510	Growth delay	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0001507	HP:0000002	Abnormality of body height	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0001507	HP:0001510	Growth delay	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0001507	HP:0000002	Abnormality of body height	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0001507	HP:0001510	Growth delay	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0001507	HP:0000002	Abnormality of body height	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001507	HP:0001510	Growth delay	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001507	HP:0000002	Abnormality of body height	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001507	HP:0001510	Growth delay	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001507	HP:0000002	Abnormality of body height	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0001507	HP:0001510	Growth delay	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0001507	HP:0000002	Abnormality of body height	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0001510	Growth delay	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0001507	HP:0000002	Abnormality of body height	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001507	HP:0001510	Growth delay	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001507	HP:0000002	Abnormality of body height	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001507	HP:0001510	Growth delay	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001507	HP:0000002	Abnormality of body height	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0001507	HP:0001510	Growth delay	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		224
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001507	HP:0000002	Abnormality of body height	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0001507	HP:0001510	Growth delay	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0001507	HP:0000002	Abnormality of body height	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001507	HP:0001510	Growth delay	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001507	HP:0004323	Abnormality of body weight	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001507	HP:0000002	Abnormality of body height	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0001507	HP:0001510	Growth delay	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0001507	HP:0000002	Abnormality of body height	1	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0001507	HP:0001510	Growth delay	1	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0001507	HP:0004323	Abnormality of body weight	1	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			389
HP:0001507	HP:0001510	Growth delay	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0001507	HP:0001510	Growth delay	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0001507	HP:0001510	Growth delay	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0001507	HP:0000002	Abnormality of body height	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0001507	HP:0001510	Growth delay	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0001507	HP:0000002	Abnormality of body height	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001507	HP:0001510	Growth delay	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001507	HP:0000002	Abnormality of body height	1	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV			12
HP:0001507	HP:0001510	Growth delay	1	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV			12
HP:0001507	HP:0004323	Abnormality of body weight	1	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9			1
HP:0001507	HP:0001510	Growth delay	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001507	HP:0000002	Abnormality of body height	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0001507	HP:0001510	Growth delay	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0001507	HP:0004323	Abnormality of body weight	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0001507	HP:0001510	Growth delay	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040280 - Obligate		4
HP:0001507	HP:0000002	Abnormality of body height	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0001507	HP:0001510	Growth delay	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0001507	HP:0000002	Abnormality of body height	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0001507	HP:0001510	Growth delay	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0001507	HP:0000002	Abnormality of body height	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0001507	HP:0001510	Growth delay	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0001507	HP:0000002	Abnormality of body height	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0001507	HP:0001510	Growth delay	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0001507	HP:0000002	Abnormality of body height	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0001507	HP:0001510	Growth delay	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0001507	HP:0000002	Abnormality of body height	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0001507	HP:0001510	Growth delay	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0001507	HP:0000002	Abnormality of body height	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0001507	HP:0000002	Abnormality of body height	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0001507	HP:0001510	Growth delay	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0001507	HP:0001510	Growth delay	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0001507	HP:0004323	Abnormality of body weight	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0001507	HP:0001510	Growth delay	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0001507	HP:0004323	Abnormality of body weight	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0001507	HP:0004323	Abnormality of body weight	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0001507	HP:0000002	Abnormality of body height	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0001507	HP:0001510	Growth delay	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0001507	HP:0004323	Abnormality of body weight	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0001507	HP:0004323	Abnormality of body weight	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0001507	HP:0001510	Growth delay	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0001507	HP:0000002	Abnormality of body height	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001507	HP:0001510	Growth delay	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001507	HP:0004323	Abnormality of body weight	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001507	HP:0001510	Growth delay	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	HP:0040283 - Occasional		149
HP:0001507	HP:0000002	Abnormality of body height	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0001507	HP:0001510	Growth delay	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0001507	HP:0004323	Abnormality of body weight	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0001507	HP:0000002	Abnormality of body height	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0001507	HP:0001510	Growth delay	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0001507	HP:0004323	Abnormality of body weight	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0001507	HP:0001510	Growth delay	1	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis			4
HP:0001507	HP:0000002	Abnormality of body height	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001507	HP:0001510	Growth delay	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001507	HP:0004323	Abnormality of body weight	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001507	HP:0001510	Growth delay	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U	.		125
HP:0001507	HP:0001510	Growth delay	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0000002	Abnormality of body height	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0001507	HP:0001510	Growth delay	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0001507	HP:0000002	Abnormality of body height	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0001510	Growth delay	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0004323	Abnormality of body weight	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0000002	Abnormality of body height	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0001510	Growth delay	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0004323	Abnormality of body weight	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0000002	Abnormality of body height	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001507	HP:0001510	Growth delay	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001507	HP:0000002	Abnormality of body height	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0001507	HP:0001510	Growth delay	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0001507	HP:0004323	Abnormality of body weight	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0001507	HP:0000002	Abnormality of body height	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001507	HP:0001510	Growth delay	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001507	HP:0000002	Abnormality of body height	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001507	HP:0001510	Growth delay	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001507	HP:0001510	Growth delay	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001507	HP:0004323	Abnormality of body weight	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001507	HP:0001510	Growth delay	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0001507	HP:0001510	Growth delay	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0001507	HP:0004323	Abnormality of body weight	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001507	HP:0001510	Growth delay	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001507	HP:0004323	Abnormality of body weight	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001507	HP:0000002	Abnormality of body height	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0001507	HP:0001510	Growth delay	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0001507	HP:0000002	Abnormality of body height	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0001507	HP:0001510	Growth delay	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent		14
HP:0001507	HP:0000002	Abnormality of body height	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004323	Abnormality of body weight	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001510	Growth delay	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001507	HP:0001510	Growth delay	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001507	HP:0004323	Abnormality of body weight	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0001507	HP:0004323	Abnormality of body weight	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0001507	HP:0004323	Abnormality of body weight	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0001507	HP:0004323	Abnormality of body weight	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0001507	HP:0004323	Abnormality of body weight	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0001507	HP:0000002	Abnormality of body height	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0001507	HP:0001510	Growth delay	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0001507	HP:0000002	Abnormality of body height	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001507	HP:0001510	Growth delay	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0001507	HP:0000002	Abnormality of body height	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0001507	HP:0001510	Growth delay	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0001507	HP:0000002	Abnormality of body height	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0001510	Growth delay	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0004323	Abnormality of body weight	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0000002	Abnormality of body height	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0001507	HP:0001510	Growth delay	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0001507	HP:0001510	Growth delay	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.		9
HP:0001507	HP:0004323	Abnormality of body weight	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001507	HP:0000002	Abnormality of body height	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0001507	HP:0001510	Growth delay	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0001507	HP:0000002	Abnormality of body height	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001507	HP:0001510	Growth delay	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001507	HP:0000002	Abnormality of body height	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0001507	HP:0000002	Abnormality of body height	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0001507	HP:0000002	Abnormality of body height	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001507	HP:0001510	Growth delay	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001507	HP:0000002	Abnormality of body height	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001507	HP:0001510	Growth delay	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001507	HP:0004323	Abnormality of body weight	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001507	HP:0000002	Abnormality of body height	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001507	HP:0001510	Growth delay	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001507	HP:0004323	Abnormality of body weight	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001507	HP:0001510	Growth delay	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0001507	HP:0004323	Abnormality of body weight	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0001507	HP:0001510	Growth delay	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0001507	HP:0004323	Abnormality of body weight	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0001507	HP:0001510	Growth delay	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0001507	HP:0001510	Growth delay	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0001507	HP:0000002	Abnormality of body height	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0001507	HP:0001510	Growth delay	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0004323	Abnormality of body weight	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0001507	HP:0000002	Abnormality of body height	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0001507	HP:0001510	Growth delay	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0001507	HP:0004323	Abnormality of body weight	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0001507	HP:0000002	Abnormality of body height	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001507	HP:0001510	Growth delay	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001507	HP:0000002	Abnormality of body height	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0001507	HP:0001510	Growth delay	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0004323	Abnormality of body weight	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0001507	HP:0000002	Abnormality of body height	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0001507	HP:0001510	Growth delay	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0004323	Abnormality of body weight	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0001507	HP:0004323	Abnormality of body weight	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0030853	Heterotaxy	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0030853	Heterotaxy	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001507	HP:0001510	Growth delay	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001507	HP:0001510	Growth delay	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001507	HP:0004323	Abnormality of body weight	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001507	HP:0000002	Abnormality of body height	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0001507	HP:0001510	Growth delay	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0001507	HP:0001510	Growth delay	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0001507	HP:0001510	Growth delay	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001507	HP:0001510	Growth delay	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001507	HP:0000002	Abnormality of body height	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001507	HP:0001510	Growth delay	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001507	HP:0000002	Abnormality of body height	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0001507	HP:0001510	Growth delay	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0001507	HP:0001510	Growth delay	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0001507	HP:0001510	Growth delay	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0001507	HP:0000002	Abnormality of body height	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0001507	HP:0001510	Growth delay	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0001507	HP:0000002	Abnormality of body height	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0001507	HP:0001510	Growth delay	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0100555	Asymmetric growth	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001507	HP:0004323	Abnormality of body weight	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0001507	HP:0000002	Abnormality of body height	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0001510	Growth delay	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0004323	Abnormality of body weight	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0004323	Abnormality of body weight	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0001507	HP:0000002	Abnormality of body height	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001510	Growth delay	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0001507	HP:0001510	Growth delay	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0001507	HP:0033170	Abnormal skinfold thickness measurement	2	CL E G H
HP:0001507	HP:0004322	Short stature	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0001507	HP:0004322	Short stature	2	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		57
HP:0001507	HP:0001511	Intrauterine growth retardation	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0001507	HP:0004322	Short stature	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0001507	HP:0004325	Decreased body weight	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001507	HP:0004322	Short stature	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004325	Decreased body weight	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001507	HP:0004322	Short stature	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0001507	HP:0004325	Decreased body weight	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0001507	HP:0004322	Short stature	2	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040282 - Frequent		15
HP:0001507	HP:0000098	Tall stature	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0001507	HP:0004322	Short stature	2	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040283 - Occasional		130
HP:0001507	HP:0004325	Decreased body weight	2	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			130
HP:0001507	HP:0004322	Short stature	2	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		130
HP:0001507	HP:0004325	Decreased body weight	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3			147
HP:0001507	HP:0004324	Increased body weight	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0001507	HP:0004322	Short stature	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0001507	HP:0004325	Decreased body weight	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0001507	HP:0004325	Decreased body weight	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001507	HP:0004325	Decreased body weight	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001507	HP:0004324	Increased body weight	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0001507	HP:0004322	Short stature	2	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040283 - Occasional		20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040283 - Occasional		35
HP:0001507	HP:0004325	Decreased body weight	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001507	HP:0004324	Increased body weight	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent			245
HP:0001507	HP:0004325	Decreased body weight	2	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0001507	HP:0004324	Increased body weight	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0001507	HP:0004325	Decreased body weight	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0001507	HP:0004324	Increased body weight	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0001507	HP:0004325	Decreased body weight	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0001507	HP:0004324	Increased body weight	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001507	HP:0004322	Short stature	2	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		135
HP:0001507	HP:0004325	Decreased body weight	2	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0001507	HP:0004325	Decreased body weight	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001507	HP:0004322	Short stature	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	HP:0040284 - Very rare		51
HP:0001507	HP:0004322	Short stature	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0001507	HP:0004325	Decreased body weight	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001507	HP:0004325	Decreased body weight	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0001507	HP:0004325	Decreased body weight	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0001507	HP:0004325	Decreased body weight	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		90
HP:0001507	HP:0004325	Decreased body weight	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0001507	HP:0004324	Increased body weight	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001507	HP:0004325	Decreased body weight	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001507	HP:0004322	Short stature	2	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.		34
HP:0001507	HP:0004322	Short stature	2	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0001507	HP:0004322	Short stature	2	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0001507	HP:0004322	Short stature	2	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0004322	Short stature	2	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type			34
HP:0001507	HP:0004325	Decreased body weight	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.		11
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0004322	Short stature	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0004325	Decreased body weight	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0001507	HP:0004322	Short stature	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0001507	HP:0004325	Decreased body weight	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0001507	HP:0004325	Decreased body weight	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0001507	HP:0004322	Short stature	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040282 - Frequent		16
HP:0001507	HP:0004322	Short stature	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0001507	HP:0004325	Decreased body weight	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0001507	HP:0004325	Decreased body weight	2	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0001507	HP:0000098	Tall stature	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001507	HP:0004325	Decreased body weight	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001507	HP:0004325	Decreased body weight	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001507	HP:0004325	Decreased body weight	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001507	HP:0000098	Tall stature	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001507	HP:0004325	Decreased body weight	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001507	HP:0000098	Tall stature	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		94
HP:0001507	HP:0004325	Decreased body weight	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0001507	HP:0004322	Short stature	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001507	HP:0004325	Decreased body weight	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001507	HP:0008897	Postnatal growth retardation	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0001507	HP:0100559	Lower limb asymmetry	2	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional		72
HP:0001507	HP:0100560	Upper limb asymmetry	2	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional		72
HP:0001507	HP:0004322	Short stature	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0001507	HP:0004325	Decreased body weight	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0001507	HP:0004325	Decreased body weight	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0001507	HP:0004322	Short stature	2	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0001507	HP:0004322	Short stature	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001507	HP:0004325	Decreased body weight	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0004325	Decreased body weight	2	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0001507	HP:0004325	Decreased body weight	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001507	HP:0004325	Decreased body weight	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency			75
HP:0001507	HP:0004325	Decreased body weight	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0001507	HP:0004322	Short stature	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001507	HP:0004325	Decreased body weight	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0004325	Decreased body weight	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0001507	HP:0004322	Short stature	2	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent		63
HP:0001507	HP:0004322	Short stature	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001507	HP:0004322	Short stature	2	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4	.		214
HP:0001507	HP:0004322	Short stature	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0001507	HP:0004322	Short stature	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0001507	HP:0008897	Postnatal growth retardation	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001507	HP:0004322	Short stature	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0001507	HP:0004322	Short stature	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0001507	HP:0004322	Short stature	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0001507	HP:0004325	Decreased body weight	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0001507	HP:0004322	Short stature	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0004322	Short stature	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent		9
HP:0001507	HP:0004325	Decreased body weight	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001507	HP:0004322	Short stature	2	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0001507	HP:0004325	Decreased body weight	2	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0001507	HP:0004324	Increased body weight	2	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0001507	HP:0004325	Decreased body weight	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0001507	HP:0004324	Increased body weight	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001507	HP:0004322	Short stature	2	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001507	HP:0004325	Decreased body weight	2	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001507	HP:0004325	Decreased body weight	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001507	HP:0004322	Short stature	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0001507	HP:0004324	Increased body weight	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0001507	HP:0004322	Short stature	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0001507	HP:0004324	Increased body weight	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0001507	HP:0004324	Increased body weight	2	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0001507	HP:0004324	Increased body weight	2	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0001507	HP:0004322	Short stature	2	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0001507	HP:0001511	Intrauterine growth retardation	2	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001507	HP:0004322	Short stature	2	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001507	HP:0004322	Short stature	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001507	HP:0004325	Decreased body weight	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001507	HP:0004322	Short stature	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0001507	HP:0004324	Increased body weight	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001507	HP:0004322	Short stature	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0001507	HP:0004324	Increased body weight	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001507	HP:0004322	Short stature	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0001507	HP:0004324	Increased body weight	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0000098	Tall stature	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0100559	Lower limb asymmetry	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0100560	Upper limb asymmetry	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004322	Short stature	2	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent		216
HP:0001507	HP:0004322	Short stature	2	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0001507	HP:0000098	Tall stature	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001507	HP:0004325	Decreased body weight	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001507	HP:0000098	Tall stature	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0001507	HP:0004322	Short stature	2	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0001507	HP:0004325	Decreased body weight	2	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0001507	HP:0004324	Increased body weight	2	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0001507	HP:0004325	Decreased body weight	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001507	HP:0004325	Decreased body weight	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0001507	HP:0004325	Decreased body weight	2	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0001507	HP:0004325	Decreased body weight	2	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0001507	HP:0004325	Decreased body weight	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001507	HP:0004325	Decreased body weight	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0001507	HP:0004325	Decreased body weight	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0001507	HP:0004324	Increased body weight	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0001507	HP:0004324	Increased body weight	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0004322	Short stature	2	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004322	Short stature	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0001507	HP:0004325	Decreased body weight	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0001507	HP:0000098	Tall stature	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0001507	HP:0004324	Increased body weight	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0001507	HP:0000098	Tall stature	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		95
HP:0001507	HP:0000823	Delayed puberty	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0001507	HP:0004325	Decreased body weight	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0001507	HP:0004325	Decreased body weight	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0001507	HP:0004325	Decreased body weight	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0001507	HP:0008897	Postnatal growth retardation	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0001507	HP:0004322	Short stature	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0001507	HP:0004325	Decreased body weight	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0001507	HP:0004324	Increased body weight	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0001507	HP:0000098	Tall stature	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0001507	HP:0100559	Lower limb asymmetry	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0001507	HP:0100560	Upper limb asymmetry	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0001507	HP:0004325	Decreased body weight	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0001507	HP:0001528	Hemihypertrophy	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0001507	HP:0001528	Hemihypertrophy	2	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040280 - Obligate		12
HP:0001507	HP:0004324	Increased body weight	2	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0001507	HP:0001528	Hemihypertrophy	2	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0001507	HP:0004324	Increased body weight	2	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0001507	HP:0004325	Decreased body weight	2	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001507	HP:0004324	Increased body weight	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0001507	HP:0004325	Decreased body weight	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0001507	HP:0008897	Postnatal growth retardation	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0001507	HP:0004322	Short stature	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0001507	HP:0008897	Postnatal growth retardation	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0001507	HP:0004322	Short stature	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0001507	HP:0004325	Decreased body weight	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0001507	HP:0004322	Short stature	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0001507	HP:0004322	Short stature	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0001507	HP:0004322	Short stature	2	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional		87
HP:0001507	HP:0004322	Short stature	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0001507	HP:0000823	Delayed puberty	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0001507	HP:0004322	Short stature	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0001507	HP:0004325	Decreased body weight	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0001507	HP:0004325	Decreased body weight	2	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0001507	HP:0004325	Decreased body weight	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001507	HP:0004322	Short stature	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0004325	Decreased body weight	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0004325	Decreased body weight	2	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0001507	HP:0004322	Short stature	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001507	HP:0004325	Decreased body weight	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0001507	HP:0004325	Decreased body weight	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0001507	HP:0004325	Decreased body weight	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0001507	HP:0004325	Decreased body weight	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0001507	HP:0004325	Decreased body weight	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001507	HP:0004322	Short stature	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001507	HP:0004325	Decreased body weight	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001507	HP:0000823	Delayed puberty	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001507	HP:0004322	Short stature	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0001507	HP:0004324	Increased body weight	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001507	HP:0004322	Short stature	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0001507	HP:0004324	Increased body weight	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001507	HP:0004322	Short stature	2	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040283 - Occasional		75
HP:0001507	HP:0004325	Decreased body weight	2	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			75
HP:0001507	HP:0004322	Short stature	2	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		75
HP:0001507	HP:0004322	Short stature	2	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040283 - Occasional		63
HP:0001507	HP:0004325	Decreased body weight	2	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			63
HP:0001507	HP:0004322	Short stature	2	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		63
HP:0001507	HP:0004322	Short stature	2	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.		126
HP:0001507	HP:0004322	Short stature	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001507	HP:0004325	Decreased body weight	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001507	HP:0004322	Short stature	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001507	HP:0004325	Decreased body weight	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent		132
HP:0001507	HP:0000823	Delayed puberty	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		132
HP:0001507	HP:0004325	Decreased body weight	2	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0001507	HP:0004322	Short stature	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001507	HP:0004325	Decreased body weight	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001507	HP:0004322	Short stature	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0001507	HP:0004322	Short stature	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001507	HP:0004325	Decreased body weight	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0001507	HP:0004322	Short stature	2	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040282 - Frequent		21
HP:0001507	HP:0004325	Decreased body weight	2	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040282 - Frequent		21
HP:0001507	HP:0004322	Short stature	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	HP:0040283 - Occasional		21
HP:0001507	HP:0004322	Short stature	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0001507	HP:0004322	Short stature	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0001507	HP:0004322	Short stature	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent		150
HP:0001507	HP:0004324	Increased body weight	2	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0001507	HP:0004322	Short stature	2	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.		3
HP:0001507	HP:0004325	Decreased body weight	2	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.		3
HP:0001507	HP:0004322	Short stature	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0001507	HP:0004322	Short stature	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0001507	HP:0004322	Short stature	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0001507	HP:0004325	Decreased body weight	2	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0008897	Postnatal growth retardation	2	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0004325	Decreased body weight	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0008897	Postnatal growth retardation	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004325	Decreased body weight	2	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001507	HP:0004325	Decreased body weight	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia			65
HP:0001507	HP:0000823	Delayed puberty	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0004324	Increased body weight	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0001507	HP:0004322	Short stature	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0004325	Decreased body weight	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0001507	HP:0004322	Short stature	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0001507	HP:0004325	Decreased body weight	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0001507	HP:0004322	Short stature	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0001507	HP:0004325	Decreased body weight	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001507	HP:0004322	Short stature	2	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040283 - Occasional		13
HP:0001507	HP:0004322	Short stature	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0001507	HP:0004325	Decreased body weight	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001507	HP:0004322	Short stature	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		49
HP:0001507	HP:0004324	Increased body weight	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0001507	HP:0004322	Short stature	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	HP:0040283 - Occasional		49
HP:0001507	HP:0004322	Short stature	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		48
HP:0001507	HP:0004324	Increased body weight	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0001507	HP:0004322	Short stature	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0001507	HP:0004322	Short stature	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		41
HP:0001507	HP:0004324	Increased body weight	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0001507	HP:0004322	Short stature	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		18
HP:0001507	HP:0004324	Increased body weight	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0001507	HP:0004322	Short stature	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0001507	HP:0000098	Tall stature	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0001507	HP:0004324	Increased body weight	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0001507	HP:0004322	Short stature	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.		75
HP:0001507	HP:0004325	Decreased body weight	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0001507	HP:0004322	Short stature	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional		75
HP:0001507	HP:0004325	Decreased body weight	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0001507	HP:0000098	Tall stature	2	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent		125
HP:0001507	HP:0000823	Delayed puberty	2	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent		125
HP:0001507	HP:0004325	Decreased body weight	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias			125
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0001507	HP:0004322	Short stature	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0001507	HP:0004325	Decreased body weight	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0001507	HP:0004325	Decreased body weight	2	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0001507	HP:0008897	Postnatal growth retardation	2	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.		31
HP:0001507	HP:0004325	Decreased body weight	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001507	HP:0004324	Increased body weight	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		88
HP:0001507	HP:0008897	Postnatal growth retardation	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0001507	HP:0004322	Short stature	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	HP:0040283 - Occasional		88
HP:0001507	HP:0004322	Short stature	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent		219
HP:0001507	HP:0004325	Decreased body weight	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		219
HP:0001507	HP:0008897	Postnatal growth retardation	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0001507	HP:0004322	Short stature	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0001507	HP:0008897	Postnatal growth retardation	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		25
HP:0001507	HP:0008897	Postnatal growth retardation	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0001507	HP:0004322	Short stature	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001507	HP:0004324	Increased body weight	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0001507	HP:0004324	Increased body weight	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0004324	Increased body weight	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0004322	Short stature	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		29
HP:0001507	HP:0004324	Increased body weight	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0001507	HP:0004324	Increased body weight	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001507	HP:0004324	Increased body weight	2	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0001507	HP:0004324	Increased body weight	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0001507	HP:0004324	Increased body weight	2	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	HP:0040283 - Occasional		7
HP:0001507	HP:0004324	Increased body weight	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001507	HP:0004322	Short stature	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001507	HP:0004325	Decreased body weight	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0001507	HP:0004322	Short stature	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001507	HP:0004322	Short stature	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001507	HP:0004322	Short stature	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001507	HP:0004322	Short stature	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001507	HP:0008897	Postnatal growth retardation	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0001507	HP:0004322	Short stature	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001507	HP:0004325	Decreased body weight	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0004322	Short stature	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001507	HP:0004322	Short stature	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040281 - Very frequent		166
HP:0001507	HP:0004322	Short stature	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0001507	HP:0004325	Decreased body weight	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001507	HP:0004322	Short stature	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0001507	HP:0004325	Decreased body weight	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001507	HP:0004325	Decreased body weight	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0001507	HP:0004325	Decreased body weight	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001507	HP:0004324	Increased body weight	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001507	HP:0004325	Decreased body weight	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001507	HP:0004322	Short stature	2	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040282 - Frequent		81
HP:0001507	HP:0004325	Decreased body weight	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0001507	HP:0004325	Decreased body weight	2	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0001507	HP:0004322	Short stature	2	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		512
HP:0001507	HP:0004322	Short stature	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0001507	HP:0004322	Short stature	2	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0001507	HP:0004325	Decreased body weight	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0001507	HP:0004322	Short stature	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001507	HP:0004322	Short stature	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0001507	HP:0004325	Decreased body weight	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0004325	Decreased body weight	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001507	HP:0004325	Decreased body weight	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001507	HP:0000098	Tall stature	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0001507	HP:0000098	Tall stature	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0004325	Decreased body weight	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0000823	Delayed puberty	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0000823	Delayed puberty	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent		3267
HP:0001507	HP:0000823	Delayed puberty	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0001507	HP:0004322	Short stature	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040282 - Frequent		3267
HP:0001507	HP:0004322	Short stature	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0001507	HP:0004325	Decreased body weight	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0001507	HP:0004325	Decreased body weight	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0001507	HP:0004325	Decreased body weight	2	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0001507	HP:0004324	Increased body weight	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0001507	HP:0004322	Short stature	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001507	HP:0004325	Decreased body weight	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0001507	HP:0004322	Short stature	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0001507	HP:0004325	Decreased body weight	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001507	HP:0004325	Decreased body weight	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0001507	HP:0004322	Short stature	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0001507	HP:0004325	Decreased body weight	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0001507	HP:0004325	Decreased body weight	2	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0001507	HP:0004322	Short stature	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0001507	HP:0004325	Decreased body weight	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0001507	HP:0004325	Decreased body weight	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004322	Short stature	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001507	HP:0004324	Increased body weight	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0001507	HP:0004322	Short stature	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0001507	HP:0008897	Postnatal growth retardation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001507	HP:0004322	Short stature	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0001507	HP:0004322	Short stature	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001507	HP:0008897	Postnatal growth retardation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0001507	HP:0008897	Postnatal growth retardation	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0001507	HP:0000098	Tall stature	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001507	HP:0004322	Short stature	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004322	Short stature	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0001507	HP:0000098	Tall stature	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001507	HP:0004322	Short stature	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0001507	HP:0004325	Decreased body weight	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0001507	HP:0004322	Short stature	2	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		192
HP:0001507	HP:0004325	Decreased body weight	2	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional		192
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0001507	HP:0004322	Short stature	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0001507	HP:0004324	Increased body weight	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0001507	HP:0004325	Decreased body weight	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0001507	HP:0004322	Short stature	2	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		24
HP:0001507	HP:0004322	Short stature	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0001507	HP:0004325	Decreased body weight	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0001507	HP:0004325	Decreased body weight	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001507	HP:0004325	Decreased body weight	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0001507	HP:0004322	Short stature	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0001507	HP:0004325	Decreased body weight	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0001507	HP:0004322	Short stature	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0001507	HP:0008897	Postnatal growth retardation	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004322	Short stature	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0001507	HP:0004322	Short stature	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent		169
HP:0001507	HP:0008897	Postnatal growth retardation	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0001507	HP:0004324	Increased body weight	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001507	HP:0004322	Short stature	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0001507	HP:0004324	Increased body weight	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0001507	HP:0004325	Decreased body weight	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001507	HP:0004325	Decreased body weight	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0001507	HP:0004325	Decreased body weight	2	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0001507	HP:0004325	Decreased body weight	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0001507	HP:0004322	Short stature	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0001507	HP:0004325	Decreased body weight	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001507	HP:0001511	Intrauterine growth retardation	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0001507	HP:0004322	Short stature	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0001507	HP:0004325	Decreased body weight	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0001507	HP:0004325	Decreased body weight	2	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0001507	HP:0004322	Short stature	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0001507	HP:0004325	Decreased body weight	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0001507	HP:0004322	Short stature	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional		67
HP:0001507	HP:0004325	Decreased body weight	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0001507	HP:0004325	Decreased body weight	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001507	HP:0008897	Postnatal growth retardation	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0001507	HP:0004325	Decreased body weight	2	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0001507	HP:0001511	Intrauterine growth retardation	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent		38
HP:0001507	HP:0004322	Short stature	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent		38
HP:0001507	HP:0004322	Short stature	2	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040281 - Very frequent		38
HP:0001507	HP:0004325	Decreased body weight	2	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0001507	HP:0004322	Short stature	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001507	HP:0004325	Decreased body weight	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0001507	HP:0004322	Short stature	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0001507	HP:0004322	Short stature	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0001507	HP:0008897	Postnatal growth retardation	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0001507	HP:0001511	Intrauterine growth retardation	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001507	HP:0004322	Short stature	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001507	HP:0004325	Decreased body weight	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001507	HP:0008897	Postnatal growth retardation	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001507	HP:0004325	Decreased body weight	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0001507	HP:0004322	Short stature	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		29
HP:0001507	HP:0004322	Short stature	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0001507	HP:0004325	Decreased body weight	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0001507	HP:0004322	Short stature	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0001507	HP:0004325	Decreased body weight	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001507	HP:0004324	Increased body weight	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0001507	HP:0004325	Decreased body weight	2	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0001507	HP:0004322	Short stature	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001507	HP:0004322	Short stature	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004324	Increased body weight	2	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0001507	HP:0004322	Short stature	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		114
HP:0001507	HP:0004324	Increased body weight	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0001507	HP:0004324	Increased body weight	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001507	HP:0004324	Increased body weight	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0001507	HP:0004322	Short stature	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		118
HP:0001507	HP:0004324	Increased body weight	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0001507	HP:0004324	Increased body weight	2	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10			118
HP:0001507	HP:0004322	Short stature	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		71
HP:0001507	HP:0004324	Increased body weight	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0001507	HP:0004324	Increased body weight	2	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12			71
HP:0001507	HP:0004322	Short stature	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		97
HP:0001507	HP:0004324	Increased body weight	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0001507	HP:0004324	Increased body weight	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001507	HP:0004324	Increased body weight	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0001507	HP:0004322	Short stature	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		87
HP:0001507	HP:0004324	Increased body weight	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0001507	HP:0004324	Increased body weight	2	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0001507	HP:0004322	Short stature	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		25
HP:0001507	HP:0004324	Increased body weight	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0001507	HP:0004324	Increased body weight	2	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0001507	HP:0004322	Short stature	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		66
HP:0001507	HP:0004324	Increased body weight	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0001507	HP:0004324	Increased body weight	2	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0001507	HP:0004322	Short stature	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		119
HP:0001507	HP:0004324	Increased body weight	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0001507	HP:0004324	Increased body weight	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0001507	HP:0004325	Decreased body weight	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0004325	Decreased body weight	2	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0001507	HP:0004322	Short stature	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001507	HP:0004325	Decreased body weight	2	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0001507	HP:0004325	Decreased body weight	2	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0001507	HP:0004325	Decreased body weight	2	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0001507	HP:0004322	Short stature	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0001507	HP:0004322	Short stature	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0001507	HP:0004322	Short stature	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0001507	HP:0004325	Decreased body weight	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional		101
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004322	Short stature	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0001507	HP:0004325	Decreased body weight	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001507	HP:0004322	Short stature	2	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004324	Increased body weight	2	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0001507	HP:0004324	Increased body weight	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0001507	HP:0004322	Short stature	2	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0001507	HP:0004322	Short stature	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001507	HP:0004325	Decreased body weight	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001507	HP:0004324	Increased body weight	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001507	HP:0004325	Decreased body weight	2	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0001507	HP:0004324	Increased body weight	2	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11			75
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0001507	HP:0004324	Increased body weight	2	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent		314
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0001507	HP:0004324	Increased body weight	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0001507	HP:0004325	Decreased body weight	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0001507	HP:0004325	Decreased body weight	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001507	HP:0008897	Postnatal growth retardation	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0001507	HP:0008897	Postnatal growth retardation	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0001507	HP:0004325	Decreased body weight	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0001507	HP:0004322	Short stature	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0001507	HP:0004325	Decreased body weight	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0001507	HP:0000823	Delayed puberty	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		16
HP:0001507	HP:0004322	Short stature	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		16
HP:0001507	HP:0000823	Delayed puberty	2	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2	.		16
HP:0001507	HP:0004322	Short stature	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent		13
HP:0001507	HP:0004322	Short stature	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0001507	HP:0004325	Decreased body weight	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0001507	HP:0004325	Decreased body weight	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0001507	HP:0004322	Short stature	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001507	HP:0004325	Decreased body weight	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0001507	HP:0004322	Short stature	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0001507	HP:0004325	Decreased body weight	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001507	HP:0004325	Decreased body weight	2	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome			385
HP:0001507	HP:0004322	Short stature	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0001507	HP:0004322	Short stature	2	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0001507	HP:0004322	Short stature	2	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent		90
HP:0001507	HP:0004322	Short stature	2	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040283 - Occasional		90
HP:0001507	HP:0004322	Short stature	2	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent		90
HP:0001507	HP:0000823	Delayed puberty	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0001507	HP:0008897	Postnatal growth retardation	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional		22
HP:0001507	HP:0004322	Short stature	2	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0001507	HP:0100556	Hemiatrophy	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0004324	Increased body weight	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0004322	Short stature	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0001507	HP:0004322	Short stature	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0001507	HP:0004325	Decreased body weight	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001507	HP:0004322	Short stature	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001507	HP:0004325	Decreased body weight	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001507	HP:0000823	Delayed puberty	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0001507	HP:0004322	Short stature	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0001507	HP:0004324	Increased body weight	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0001507	HP:0008897	Postnatal growth retardation	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0001507	HP:0004324	Increased body weight	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001507	HP:0004322	Short stature	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001507	HP:0004322	Short stature	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001507	HP:0004325	Decreased body weight	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001507	HP:0008897	Postnatal growth retardation	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0001507	HP:0004322	Short stature	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001507	HP:0004324	Increased body weight	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0001507	HP:0004322	Short stature	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		276
HP:0001507	HP:0004325	Decreased body weight	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001507	HP:0004322	Short stature	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		5769
HP:0001507	HP:0004325	Decreased body weight	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001507	HP:0004322	Short stature	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0001507	HP:0004325	Decreased body weight	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0001507	HP:0004325	Decreased body weight	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001507	HP:0004322	Short stature	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		7642
HP:0001507	HP:0004325	Decreased body weight	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0001507	HP:0004322	Short stature	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1	.		7642
HP:0001507	HP:0004325	Decreased body weight	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0001507	HP:0004325	Decreased body weight	2	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0001507	HP:0000823	Delayed puberty	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0004322	Short stature	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0000823	Delayed puberty	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0004325	Decreased body weight	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0008897	Postnatal growth retardation	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0004322	Short stature	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0004325	Decreased body weight	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0004322	Short stature	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001507	HP:0004322	Short stature	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1086
HP:0001507	HP:0004325	Decreased body weight	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0001507	HP:0008897	Postnatal growth retardation	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	HP:0040283 - Occasional		10
HP:0001507	HP:0004322	Short stature	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	HP:0040283 - Occasional		10
HP:0001507	HP:0000098	Tall stature	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001507	HP:0004325	Decreased body weight	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001507	HP:0000098	Tall stature	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0001507	HP:0004325	Decreased body weight	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001507	HP:0004325	Decreased body weight	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0001507	HP:0000823	Delayed puberty	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0001507	HP:0004322	Short stature	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0001507	HP:0004322	Short stature	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent		109
HP:0001507	HP:0004325	Decreased body weight	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0001507	HP:0004325	Decreased body weight	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0004322	Short stature	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0001507	HP:0004322	Short stature	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		76
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0001507	HP:0004322	Short stature	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0001507	HP:0004325	Decreased body weight	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001507	HP:0008897	Postnatal growth retardation	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0001507	HP:0001511	Intrauterine growth retardation	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001507	HP:0004322	Short stature	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0001507	HP:0000098	Tall stature	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	HP:0040283 - Occasional		15
HP:0001507	HP:0004322	Short stature	2	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		15
HP:0001507	HP:0004322	Short stature	2	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0004322	Short stature	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001507	HP:0004325	Decreased body weight	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001507	HP:0004325	Decreased body weight	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0001507	HP:0004325	Decreased body weight	2	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0001507	HP:0004322	Short stature	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001507	HP:0004325	Decreased body weight	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001507	HP:0004322	Short stature	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0001507	HP:0004324	Increased body weight	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0001507	HP:0004322	Short stature	2	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0004325	Decreased body weight	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0001507	HP:0004322	Short stature	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0001507	HP:0004325	Decreased body weight	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001507	HP:0004322	Short stature	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001507	HP:0004325	Decreased body weight	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0008897	Postnatal growth retardation	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0001507	HP:0004324	Increased body weight	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001507	HP:0004325	Decreased body weight	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001507	HP:0004325	Decreased body weight	2	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1			247
HP:0001507	HP:0004322	Short stature	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0001507	HP:0004325	Decreased body weight	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001507	HP:0004325	Decreased body weight	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0001507	HP:0000098	Tall stature	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001507	HP:0004322	Short stature	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001507	HP:0004325	Decreased body weight	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001507	HP:0004322	Short stature	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0001507	HP:0004325	Decreased body weight	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0001507	HP:0004322	Short stature	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0004322	Short stature	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0004324	Increased body weight	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0004322	Short stature	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001507	HP:0004322	Short stature	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0001507	HP:0004322	Short stature	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001507	HP:0004322	Short stature	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0001507	HP:0004325	Decreased body weight	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0001507	HP:0000823	Delayed puberty	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0004322	Short stature	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0004325	Decreased body weight	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0001507	HP:0004324	Increased body weight	2	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0001507	HP:0004325	Decreased body weight	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001507	HP:0004322	Short stature	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0001507	HP:0004325	Decreased body weight	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0001507	HP:0008897	Postnatal growth retardation	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0001507	HP:0004325	Decreased body weight	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0001507	HP:0004322	Short stature	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0001507	HP:0004325	Decreased body weight	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0001507	HP:0004325	Decreased body weight	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0001507	HP:0004322	Short stature	2	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1	HP:0040283 - Occasional		272
HP:0001507	HP:0004322	Short stature	2	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		272
HP:0001507	HP:0100559	Lower limb asymmetry	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0004322	Short stature	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0004324	Increased body weight	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001507	HP:0004325	Decreased body weight	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001507	HP:0000098	Tall stature	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001507	HP:0004325	Decreased body weight	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001507	HP:0004322	Short stature	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0001507	HP:0004325	Decreased body weight	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0001507	HP:0000098	Tall stature	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001507	HP:0004325	Decreased body weight	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001507	HP:0004325	Decreased body weight	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0001507	HP:0004325	Decreased body weight	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0001507	HP:0004322	Short stature	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0001507	HP:0004322	Short stature	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional		317
HP:0001507	HP:0000098	Tall stature	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0001507	HP:0000098	Tall stature	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0001507	HP:0004325	Decreased body weight	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001507	HP:0008897	Postnatal growth retardation	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001507	HP:0008897	Postnatal growth retardation	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001507	HP:0004322	Short stature	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001507	HP:0000823	Delayed puberty	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0004322	Short stature	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001507	HP:0008897	Postnatal growth retardation	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0001507	HP:0004324	Increased body weight	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001507	HP:0004325	Decreased body weight	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0004322	Short stature	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0004322	Short stature	2	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0001507	HP:0004325	Decreased body weight	2	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0001507	HP:0004322	Short stature	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0001507	HP:0000098	Tall stature	2	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0001507	HP:0004322	Short stature	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.		7
HP:0001507	HP:0004322	Short stature	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.		7
HP:0001507	HP:0004325	Decreased body weight	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001507	HP:0004325	Decreased body weight	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001507	HP:0004325	Decreased body weight	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0001507	HP:0004325	Decreased body weight	2	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0004325	Decreased body weight	2	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0008897	Postnatal growth retardation	2	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0004325	Decreased body weight	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0008897	Postnatal growth retardation	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0001507	HP:0004325	Decreased body weight	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0001507	HP:0004325	Decreased body weight	2	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19			18
HP:0001507	HP:0004325	Decreased body weight	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0001507	HP:0004325	Decreased body weight	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0001507	HP:0004325	Decreased body weight	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17			19
HP:0001507	HP:0004325	Decreased body weight	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0001507	HP:0004324	Increased body weight	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		39
HP:0001507	HP:0004325	Decreased body weight	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive			9
HP:0001507	HP:0004325	Decreased body weight	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0001507	HP:0004325	Decreased body weight	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0001507	HP:0004325	Decreased body weight	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0004322	Short stature	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0001507	HP:0004322	Short stature	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent		83
HP:0001507	HP:0004325	Decreased body weight	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001507	HP:0004325	Decreased body weight	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001507	HP:0004325	Decreased body weight	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001507	HP:0008897	Postnatal growth retardation	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001507	HP:0008897	Postnatal growth retardation	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001507	HP:0004322	Short stature	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0004322	Short stature	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0001507	HP:0004325	Decreased body weight	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0001507	HP:0004322	Short stature	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0001507	HP:0004325	Decreased body weight	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0001507	HP:0004322	Short stature	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0001507	HP:0004325	Decreased body weight	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0001507	HP:0004322	Short stature	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0001507	HP:0004325	Decreased body weight	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0001507	HP:0004325	Decreased body weight	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0001507	HP:0004322	Short stature	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0001507	HP:0004324	Increased body weight	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001507	HP:0000823	Delayed puberty	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0001507	HP:0000823	Delayed puberty	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0001507	HP:0004325	Decreased body weight	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0001507	HP:0004322	Short stature	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent		87
HP:0001507	HP:0004324	Increased body weight	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0001507	HP:0004322	Short stature	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	HP:0040283 - Occasional
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0001507	HP:0004322	Short stature	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001507	HP:0004322	Short stature	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001507	HP:0004322	Short stature	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004322	Short stature	2	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		181
HP:0001507	HP:0004322	Short stature	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0001507	HP:0004322	Short stature	2	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		6
HP:0001507	HP:0004325	Decreased body weight	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001507	HP:0000098	Tall stature	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0001507	HP:0004325	Decreased body weight	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0001507	HP:0000098	Tall stature	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0001507	HP:0004325	Decreased body weight	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0001507	HP:0000098	Tall stature	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001507	HP:0001528	Hemihypertrophy	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent		114
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	HP:0040281 - Very frequent		114
HP:0001507	HP:0004322	Short stature	2	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	HP:0040281 - Very frequent		114
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.		114
HP:0001507	HP:0008897	Postnatal growth retardation	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.		114
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		114
HP:0001507	HP:0004325	Decreased body weight	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001507	HP:0008897	Postnatal growth retardation	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		114
HP:0001507	HP:0004324	Increased body weight	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0001507	HP:0004325	Decreased body weight	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0001507	HP:0004325	Decreased body weight	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0001507	HP:0000098	Tall stature	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0001507	HP:0004325	Decreased body weight	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0001507	HP:0000098	Tall stature	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0001507	HP:0004325	Decreased body weight	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0001507	HP:0004322	Short stature	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0004325	Decreased body weight	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0001507	HP:0004322	Short stature	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0001507	HP:0004325	Decreased body weight	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0001507	HP:0004322	Short stature	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0001507	HP:0004322	Short stature	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0004325	Decreased body weight	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0001507	HP:0000823	Delayed puberty	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		200
HP:0001507	HP:0004322	Short stature	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		200
HP:0001507	HP:0004325	Decreased body weight	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0001507	HP:0004322	Short stature	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0004325	Decreased body weight	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0001507	HP:0004322	Short stature	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0001507	HP:0004325	Decreased body weight	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0001507	HP:0004322	Short stature	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0001507	HP:0004325	Decreased body weight	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4			50
HP:0001507	HP:0004325	Decreased body weight	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045081	Abnormality of body mass index	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0004325	Decreased body weight	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0045081	Abnormality of body mass index	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0001507	HP:0004324	Increased body weight	2	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0001507	HP:0004324	Increased body weight	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001507	HP:0004322	Short stature	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.		20
HP:0001507	HP:0004322	Short stature	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.		20
HP:0001507	HP:0004325	Decreased body weight	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0001507	HP:0004322	Short stature	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0001507	HP:0004325	Decreased body weight	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0001507	HP:0004322	Short stature	2	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		161
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0001507	HP:0004322	Short stature	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0001507	HP:0004325	Decreased body weight	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.		161
HP:0001507	HP:0004322	Short stature	2	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.		161
HP:0001507	HP:0004325	Decreased body weight	2	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.		161
HP:0001507	HP:0000823	Delayed puberty	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0004322	Short stature	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0004325	Decreased body weight	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0004322	Short stature	2	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0004322	Short stature	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0001507	HP:0004322	Short stature	2	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		38
HP:0001507	HP:0004322	Short stature	2	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		146
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0001507	HP:0004322	Short stature	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0001507	HP:0004325	Decreased body weight	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0001507	HP:0004322	Short stature	2	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	.		146
HP:0001507	HP:0004324	Increased body weight	2	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0001507	HP:0004322	Short stature	2	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		34
HP:0001507	HP:0004322	Short stature	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004324	Increased body weight	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0001507	HP:0004322	Short stature	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		342
HP:0001507	HP:0004324	Increased body weight	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0001507	HP:0004324	Increased body weight	2	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	.		342
HP:0001507	HP:0004322	Short stature	2	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		342
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0001507	HP:0004322	Short stature	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		17
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0004322	Short stature	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0004325	Decreased body weight	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0004322	Short stature	2	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		31
HP:0001507	HP:0004322	Short stature	2	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.		31
HP:0001507	HP:0004324	Increased body weight	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0001507	HP:0004322	Short stature	2	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040283 - Occasional		5
HP:0001507	HP:0004325	Decreased body weight	2	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			5
HP:0001507	HP:0004322	Short stature	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0001507	HP:0004322	Short stature	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0004324	Increased body weight	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0001507	HP:0004324	Increased body weight	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001507	HP:0031853	Isomerism	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001507	HP:0004324	Increased body weight	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		86
HP:0001507	HP:0004324	Increased body weight	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		57
HP:0001507	HP:0004325	Decreased body weight	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001507	HP:0004325	Decreased body weight	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0001507	HP:0045081	Abnormality of body mass index	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0001507	HP:0004325	Decreased body weight	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0001507	HP:0004322	Short stature	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0001507	HP:0004322	Short stature	2	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.		11
HP:0001507	HP:0008897	Postnatal growth retardation	2	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0004322	Short stature	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0001507	HP:0000823	Delayed puberty	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0001507	HP:0000823	Delayed puberty	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0001507	HP:0004322	Short stature	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001507	HP:0008897	Postnatal growth retardation	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001507	HP:0008897	Postnatal growth retardation	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001507	HP:0000823	Delayed puberty	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		515
HP:0001507	HP:0004324	Increased body weight	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0001507	HP:0000823	Delayed puberty	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		515
HP:0001507	HP:0004325	Decreased body weight	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0001507	HP:0004325	Decreased body weight	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001507	HP:0000098	Tall stature	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0001507	HP:0004324	Increased body weight	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0001507	HP:0004325	Decreased body weight	2	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0001507	HP:0004322	Short stature	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001507	HP:0004325	Decreased body weight	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0001507	HP:0004325	Decreased body weight	2	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0001507	HP:0004322	Short stature	2	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional		52
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0001507	HP:0004322	Short stature	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0001507	HP:0004325	Decreased body weight	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0001507	HP:0004322	Short stature	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0001507	HP:0004322	Short stature	2	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits			1
HP:0001507	HP:0000098	Tall stature	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0001507	HP:0004322	Short stature	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0001507	HP:0004322	Short stature	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001507	HP:0004322	Short stature	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0001507	HP:0004322	Short stature	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0001507	HP:0000098	Tall stature	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0001507	HP:0004325	Decreased body weight	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0001507	HP:0004325	Decreased body weight	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0001507	HP:0004325	Decreased body weight	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0001507	HP:0004325	Decreased body weight	2	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001507	HP:0031853	Isomerism	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001507	HP:0000823	Delayed puberty	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0004322	Short stature	2	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		15
HP:0001507	HP:0004322	Short stature	2	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0001507	HP:0004325	Decreased body weight	2	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0001507	HP:0004322	Short stature	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0001507	HP:0008897	Postnatal growth retardation	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0001507	HP:0004325	Decreased body weight	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045081	Abnormality of body mass index	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0004325	Decreased body weight	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001507	HP:0004322	Short stature	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0001507	HP:0004322	Short stature	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0001507	HP:0004322	Short stature	2	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.		112
HP:0001507	HP:0004322	Short stature	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent		102
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0001507	HP:0004322	Short stature	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0001507	HP:0004325	Decreased body weight	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0001507	HP:0004325	Decreased body weight	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0001507	HP:0004325	Decreased body weight	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0001507	HP:0000823	Delayed puberty	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		27
HP:0001507	HP:0004325	Decreased body weight	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001507	HP:0004325	Decreased body weight	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0001507	HP:0004325	Decreased body weight	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0001507	HP:0004322	Short stature	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001507	HP:0004322	Short stature	2	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001507	HP:0004322	Short stature	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001507	HP:0004322	Short stature	2	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	HP:0040283 - Occasional		13
HP:0001507	HP:0004324	Increased body weight	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0001507	HP:0004322	Short stature	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004325	Decreased body weight	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0001507	HP:0004322	Short stature	2	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0001507	HP:0004324	Increased body weight	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0001507	HP:0004324	Increased body weight	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0001507	HP:0004322	Short stature	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0001507	HP:0004325	Decreased body weight	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0001507	HP:0000098	Tall stature	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0004322	Short stature	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0004325	Decreased body weight	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001507	HP:0004325	Decreased body weight	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001507	HP:0004325	Decreased body weight	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001507	HP:0004324	Increased body weight	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001507	HP:0004322	Short stature	2	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001507	HP:0004324	Increased body weight	2	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001507	HP:0004325	Decreased body weight	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001507	HP:0004322	Short stature	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0004325	Decreased body weight	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0008897	Postnatal growth retardation	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0001507	HP:0004322	Short stature	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0004325	Decreased body weight	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0008897	Postnatal growth retardation	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0001507	HP:0004325	Decreased body weight	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0001507	HP:0004325	Decreased body weight	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0001507	HP:0004322	Short stature	2	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent		67
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0001507	HP:0004322	Short stature	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0001507	HP:0008897	Postnatal growth retardation	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0001507	HP:0004322	Short stature	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent		79
HP:0001507	HP:0004322	Short stature	2	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001507	HP:0004325	Decreased body weight	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001507	HP:0004325	Decreased body weight	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001507	HP:0008897	Postnatal growth retardation	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0001507	HP:0004322	Short stature	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0001507	HP:0004325	Decreased body weight	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0001507	HP:0004325	Decreased body weight	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0001507	HP:0004325	Decreased body weight	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0001507	HP:0004322	Short stature	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0004322	Short stature	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0004324	Increased body weight	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0004322	Short stature	2	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0001507	HP:0004322	Short stature	2	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		215
HP:0001507	HP:0004322	Short stature	2	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent		215
HP:0001507	HP:0004322	Short stature	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001507	HP:0004322	Short stature	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0001507	HP:0004322	Short stature	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0001507	HP:0004322	Short stature	2	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent		222
HP:0001507	HP:0004322	Short stature	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0001507	HP:0004322	Short stature	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0001507	HP:0004325	Decreased body weight	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0001507	HP:0004322	Short stature	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0001507	HP:0004322	Short stature	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001507	HP:0004322	Short stature	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0001507	HP:0004322	Short stature	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001507	HP:0004325	Decreased body weight	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001507	HP:0004322	Short stature	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0001507	HP:0004322	Short stature	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	HP:0003593 - Infantile onset	373
HP:0001507	HP:0004322	Short stature	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0001507	HP:0000098	Tall stature	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001507	HP:0004322	Short stature	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0001507	HP:0004322	Short stature	2	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2			243
HP:0001507	HP:0004322	Short stature	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001507	HP:0004325	Decreased body weight	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001507	HP:0004322	Short stature	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0001507	HP:0004322	Short stature	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	HP:0003593 - Infantile onset	243
HP:0001507	HP:0004322	Short stature	2	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	.		1
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001507	HP:0100559	Lower limb asymmetry	2	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.		284
HP:0001507	HP:0100559	Lower limb asymmetry	2	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease	HP:0040281 - Very frequent		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type			284
HP:0001507	HP:0100559	Lower limb asymmetry	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.		284
HP:0001507	HP:0004322	Short stature	2	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0001507	HP:0000098	Tall stature	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0001507	HP:0004322	Short stature	2	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent		749
HP:0001507	HP:0004322	Short stature	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0001507	HP:0004322	Short stature	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0001507	HP:0004325	Decreased body weight	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0001507	HP:0004325	Decreased body weight	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0001507	HP:0004322	Short stature	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0001507	HP:0000098	Tall stature	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0001507	HP:0004325	Decreased body weight	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0001507	HP:0004322	Short stature	2	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0001507	HP:0000098	Tall stature	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0001507	HP:0004325	Decreased body weight	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0001507	HP:0000098	Tall stature	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0001507	HP:0004325	Decreased body weight	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0001507	HP:0000823	Delayed puberty	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0001507	HP:0004325	Decreased body weight	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent		263
HP:0001507	HP:0000823	Delayed puberty	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0001507	HP:0004322	Short stature	2	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0001507	HP:0004322	Short stature	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0001507	HP:0004322	Short stature	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0001507	HP:0004322	Short stature	2	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		110
HP:0001507	HP:0004322	Short stature	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0001507	HP:0004322	Short stature	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0001507	HP:0004322	Short stature	2	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.		110
HP:0001507	HP:0004322	Short stature	2	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		137
HP:0001507	HP:0004322	Short stature	2	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0001507	HP:0004322	Short stature	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		137
HP:0001507	HP:0008897	Postnatal growth retardation	2	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0004322	Short stature	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0001507	HP:0008897	Postnatal growth retardation	2	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		9
HP:0001507	HP:0008897	Postnatal growth retardation	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0001507	HP:0004322	Short stature	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0001507	HP:0004322	Short stature	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0001507	HP:0004322	Short stature	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0001507	HP:0004322	Short stature	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001507	HP:0004322	Short stature	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0004324	Increased body weight	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001507	HP:0004325	Decreased body weight	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001507	HP:0004324	Increased body weight	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001507	HP:0004322	Short stature	2	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional		24
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0001507	HP:0004325	Decreased body weight	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		5
HP:0001507	HP:0004325	Decreased body weight	2	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0001507	HP:0045081	Abnormality of body mass index	2	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0001507	HP:0004322	Short stature	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001507	HP:0004325	Decreased body weight	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001507	HP:0004325	Decreased body weight	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001507	HP:0004322	Short stature	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001507	HP:0004325	Decreased body weight	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0001507	HP:0004322	Short stature	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001507	HP:0004325	Decreased body weight	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001507	HP:0004325	Decreased body weight	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0001507	HP:0004325	Decreased body weight	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001507	HP:0004322	Short stature	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040282 - Frequent		6
HP:0001507	HP:0004322	Short stature	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001507	HP:0004325	Decreased body weight	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001507	HP:0004322	Short stature	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0001507	HP:0004322	Short stature	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0001507	HP:0000823	Delayed puberty	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001507	HP:0004324	Increased body weight	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001507	HP:0004322	Short stature	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0004322	Short stature	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0001507	HP:0004325	Decreased body weight	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001507	HP:0000098	Tall stature	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0004322	Short stature	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0001507	HP:0004325	Decreased body weight	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001507	HP:0004325	Decreased body weight	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0004324	Increased body weight	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0001507	HP:0004322	Short stature	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0004325	Decreased body weight	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0004322	Short stature	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0004324	Increased body weight	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0004325	Decreased body weight	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0008897	Postnatal growth retardation	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.		291
HP:0001507	HP:0004322	Short stature	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0001507	HP:0004324	Increased body weight	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001507	HP:0004325	Decreased body weight	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001507	HP:0004322	Short stature	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0001507	HP:0004324	Increased body weight	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001507	HP:0004325	Decreased body weight	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001507	HP:0008897	Postnatal growth retardation	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0001507	HP:0004322	Short stature	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0004325	Decreased body weight	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia			24
HP:0001507	HP:0004322	Short stature	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0001507	HP:0004324	Increased body weight	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0001507	HP:0004325	Decreased body weight	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0001507	HP:0004325	Decreased body weight	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0001507	HP:0004325	Decreased body weight	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0001507	HP:0004322	Short stature	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001507	HP:0004322	Short stature	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001507	HP:0004325	Decreased body weight	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0001507	HP:0004322	Short stature	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0001507	HP:0004325	Decreased body weight	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0000098	Tall stature	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0001507	HP:0004322	Short stature	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0001507	HP:0008897	Postnatal growth retardation	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0001507	HP:0004322	Short stature	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0001507	HP:0004325	Decreased body weight	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001507	HP:0004322	Short stature	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21	.		20
HP:0001507	HP:0004322	Short stature	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0001507	HP:0004322	Short stature	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0001507	HP:0004325	Decreased body weight	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0001507	HP:0004324	Increased body weight	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0001507	HP:0004325	Decreased body weight	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0001507	HP:0000823	Delayed puberty	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0001507	HP:0004322	Short stature	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0001507	HP:0004324	Increased body weight	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0001507	HP:0008897	Postnatal growth retardation	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0001507	HP:0004325	Decreased body weight	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent		15
HP:0001507	HP:0004322	Short stature	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent		15
HP:0001507	HP:0000823	Delayed puberty	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0001507	HP:0004322	Short stature	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0004325	Decreased body weight	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0004325	Decreased body weight	2	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0001507	HP:0004325	Decreased body weight	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0001507	HP:0004325	Decreased body weight	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0001507	HP:0004322	Short stature	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001507	HP:0004324	Increased body weight	2	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0100559	Lower limb asymmetry	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0004322	Short stature	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040281 - Very frequent		39
HP:0001507	HP:0004322	Short stature	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.		39
HP:0001507	HP:0004324	Increased body weight	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0001507	HP:0004325	Decreased body weight	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0001507	HP:0004325	Decreased body weight	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001507	HP:0000823	Delayed puberty	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0001507	HP:0004322	Short stature	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0001507	HP:0004324	Increased body weight	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001507	HP:0004322	Short stature	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0001507	HP:0004324	Increased body weight	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0001507	HP:0004325	Decreased body weight	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0001507	HP:0004322	Short stature	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0001507	HP:0004325	Decreased body weight	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0001507	HP:0008897	Postnatal growth retardation	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		127
HP:0001507	HP:0004322	Short stature	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		127
HP:0001507	HP:0004322	Short stature	2	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development	HP:0040284 - Very rare		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0004322	Short stature	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0004322	Short stature	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001507	HP:0000823	Delayed puberty	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0001507	HP:0004325	Decreased body weight	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0001507	HP:0004325	Decreased body weight	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0001507	HP:0004322	Short stature	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001507	HP:0004325	Decreased body weight	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0001507	HP:0004322	Short stature	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0000823	Delayed puberty	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001507	HP:0004325	Decreased body weight	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0001507	HP:0000823	Delayed puberty	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001507	HP:0004325	Decreased body weight	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0001507	HP:0004322	Short stature	2	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.		112
HP:0001507	HP:0004322	Short stature	2	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent		112
HP:0001507	HP:0004325	Decreased body weight	2	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0001507	HP:0004325	Decreased body weight	2	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism			73
HP:0001507	HP:0008897	Postnatal growth retardation	2	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent		73
HP:0001507	HP:0004325	Decreased body weight	2	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency			73
HP:0001507	HP:0000823	Delayed puberty	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		53
HP:0001507	HP:0004322	Short stature	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent		53
HP:0001507	HP:0004325	Decreased body weight	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0001507	HP:0000823	Delayed puberty	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent		53
HP:0001507	HP:0004325	Decreased body weight	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency			53
HP:0001507	HP:0000098	Tall stature	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0001507	HP:0004324	Increased body weight	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0001507	HP:0004325	Decreased body weight	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0001507	HP:0004322	Short stature	2	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome	.		60
HP:0001507	HP:0004325	Decreased body weight	2	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0001507	HP:0004322	Short stature	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040282 - Frequent		41
HP:0001507	HP:0004325	Decreased body weight	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0001507	HP:0008897	Postnatal growth retardation	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0001507	HP:0004325	Decreased body weight	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0001507	HP:0004322	Short stature	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040282 - Frequent		5
HP:0001507	HP:0004325	Decreased body weight	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0001507	HP:0008897	Postnatal growth retardation	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0001507	HP:0004325	Decreased body weight	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0001507	HP:0004322	Short stature	2	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		54
HP:0001507	HP:0004324	Increased body weight	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0001507	HP:0004325	Decreased body weight	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0001507	HP:0004325	Decreased body weight	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001507	HP:0000823	Delayed puberty	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0100559	Lower limb asymmetry	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0004322	Short stature	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0004325	Decreased body weight	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001507	HP:0004322	Short stature	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004325	Decreased body weight	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001507	HP:0000823	Delayed puberty	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0001507	HP:0000823	Delayed puberty	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		36
HP:0001507	HP:0004324	Increased body weight	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0001507	HP:0004322	Short stature	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0001507	HP:0004325	Decreased body weight	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001507	HP:0004325	Decreased body weight	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0001507	HP:0004325	Decreased body weight	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency			94
HP:0001507	HP:0004325	Decreased body weight	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0001507	HP:0004325	Decreased body weight	2	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0001507	HP:0004325	Decreased body weight	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0001507	HP:0004325	Decreased body weight	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045081	Abnormality of body mass index	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0008897	Postnatal growth retardation	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.		145
HP:0001507	HP:0004324	Increased body weight	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001507	HP:0004322	Short stature	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0001507	HP:0004325	Decreased body weight	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0001507	HP:0004322	Short stature	2	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040283 - Occasional		29
HP:0001507	HP:0004322	Short stature	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0001507	HP:0004325	Decreased body weight	2	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0001507	HP:0004322	Short stature	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0001507	HP:0004325	Decreased body weight	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0001507	HP:0004322	Short stature	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0001507	HP:0004322	Short stature	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0004322	Short stature	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0001507	HP:0004325	Decreased body weight	2	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001507	HP:0004324	Increased body weight	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001507	HP:0000823	Delayed puberty	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		33
HP:0001507	HP:0004322	Short stature	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0001507	HP:0004324	Increased body weight	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001507	HP:0004325	Decreased body weight	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001507	HP:0004325	Decreased body weight	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001507	HP:0004325	Decreased body weight	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0001507	HP:0004325	Decreased body weight	2	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type			9
HP:0001507	HP:0004322	Short stature	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0004322	Short stature	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0004322	Short stature	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0004325	Decreased body weight	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0001507	HP:0004322	Short stature	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0004322	Short stature	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0001507	HP:0004325	Decreased body weight	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0004325	Decreased body weight	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001507	HP:0004322	Short stature	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0004322	Short stature	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0001507	HP:0004325	Decreased body weight	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0004322	Short stature	2	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities	HP:0040284 - Very rare		47
HP:0001507	HP:0004322	Short stature	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0001507	HP:0004325	Decreased body weight	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001507	HP:0004324	Increased body weight	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.		47
HP:0001507	HP:0004325	Decreased body weight	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0001507	HP:0008897	Postnatal growth retardation	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0001507	HP:0004322	Short stature	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	HP:0040284 - Very rare
HP:0001507	HP:0000823	Delayed puberty	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0001507	HP:0004324	Increased body weight	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0004322	Short stature	2	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.		118
HP:0001507	HP:0000098	Tall stature	2	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0001507	HP:0004325	Decreased body weight	2	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0001507	HP:0000098	Tall stature	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0001507	HP:0004324	Increased body weight	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0001507	HP:0004322	Short stature	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0004325	Decreased body weight	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0001507	HP:0004322	Short stature	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0001507	HP:0004325	Decreased body weight	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0001507	HP:0004322	Short stature	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0001507	HP:0004322	Short stature	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0004325	Decreased body weight	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0001507	HP:0004322	Short stature	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0004325	Decreased body weight	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0001507	HP:0004322	Short stature	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0001507	HP:0004322	Short stature	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0004322	Short stature	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0004325	Decreased body weight	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0001507	HP:0004325	Decreased body weight	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0001507	HP:0000098	Tall stature	2	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0001507	HP:0000098	Tall stature	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0004324	Increased body weight	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0004325	Decreased body weight	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040284 - Very rare		1
HP:0001507	HP:0008897	Postnatal growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0001507	HP:0000098	Tall stature	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare		1
HP:0001507	HP:0004322	Short stature	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001507	HP:0004324	Increased body weight	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0004325	Decreased body weight	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001507	HP:0004322	Short stature	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0001507	HP:0004322	Short stature	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0001507	HP:0004322	Short stature	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0001507	HP:0004322	Short stature	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0001507	HP:0004322	Short stature	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0001507	HP:0004322	Short stature	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0001507	HP:0004322	Short stature	2	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0004325	Decreased body weight	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001507	HP:0004325	Decreased body weight	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001507	HP:0004322	Short stature	2	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	HP:0040283 - Occasional		3
HP:0001507	HP:0100559	Lower limb asymmetry	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0001507	HP:0004322	Short stature	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0001507	HP:0004324	Increased body weight	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001507	HP:0004325	Decreased body weight	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001507	HP:0000823	Delayed puberty	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001507	HP:0004322	Short stature	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0001507	HP:0008897	Postnatal growth retardation	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0001507	HP:0008897	Postnatal growth retardation	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0000098	Tall stature	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001507	HP:0004325	Decreased body weight	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001507	HP:0000098	Tall stature	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0001507	HP:0004325	Decreased body weight	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0001507	HP:0004322	Short stature	2	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0001507	HP:0031853	Isomerism	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001507	HP:0004325	Decreased body weight	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0001507	HP:0008897	Postnatal growth retardation	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent		25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0001507	HP:0004322	Short stature	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0001507	HP:0004325	Decreased body weight	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0001507	HP:0004322	Short stature	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004325	Decreased body weight	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0001507	HP:0004322	Short stature	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0001507	HP:0004325	Decreased body weight	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001507	HP:0004322	Short stature	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.		3
HP:0001507	HP:0004322	Short stature	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0004322	Short stature	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001507	HP:0004322	Short stature	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0001507	HP:0004325	Decreased body weight	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001507	HP:0000823	Delayed puberty	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0001507	HP:0004325	Decreased body weight	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0001507	HP:0004324	Increased body weight	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001507	HP:0004325	Decreased body weight	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0004322	Short stature	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0004325	Decreased body weight	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0004325	Decreased body weight	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0001507	HP:0000098	Tall stature	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0000098	Tall stature	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.		44
HP:0001507	HP:0001528	Hemihypertrophy	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0004322	Short stature	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0004324	Increased body weight	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0004322	Short stature	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		79
HP:0001507	HP:0004322	Short stature	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.		79
HP:0001507	HP:0004325	Decreased body weight	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0001507	HP:0004322	Short stature	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0001507	HP:0004325	Decreased body weight	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0001507	HP:0004325	Decreased body weight	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0001507	HP:0004322	Short stature	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001507	HP:0004325	Decreased body weight	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.		9
HP:0001507	HP:0004322	Short stature	2	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.		9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0001507	HP:0004325	Decreased body weight	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0001507	HP:0008897	Postnatal growth retardation	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0001507	HP:0004322	Short stature	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0001507	HP:0004322	Short stature	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001507	HP:0004322	Short stature	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001507	HP:0004325	Decreased body weight	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0001507	HP:0004325	Decreased body weight	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0001507	HP:0004325	Decreased body weight	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0001507	HP:0004322	Short stature	2	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040281 - Very frequent		18
HP:0001507	HP:0004322	Short stature	2	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0001507	HP:0004325	Decreased body weight	2	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0001507	HP:0004324	Increased body weight	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0001507	HP:0004325	Decreased body weight	2	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0001507	HP:0004322	Short stature	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001507	HP:0000098	Tall stature	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0001507	HP:0004325	Decreased body weight	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome			747
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001507	HP:0004322	Short stature	2	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040283 - Occasional		13
HP:0001507	HP:0004322	Short stature	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001507	HP:0004325	Decreased body weight	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001507	HP:0000823	Delayed puberty	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0004324	Increased body weight	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0000823	Delayed puberty	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0001507	HP:0004322	Short stature	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0004322	Short stature	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		HP:0003593 - Infantile onset	14
HP:0001507	HP:0004322	Short stature	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0001507	HP:0004322	Short stature	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004322	Short stature	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001507	HP:0004322	Short stature	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0004322	Short stature	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0004325	Decreased body weight	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0008897	Postnatal growth retardation	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0001507	HP:0004322	Short stature	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0001507	HP:0004322	Short stature	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.		1
HP:0001507	HP:0004322	Short stature	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.		304
HP:0001507	HP:0004322	Short stature	2	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		304
HP:0001507	HP:0004322	Short stature	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001507	HP:0004322	Short stature	2	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0001507	HP:0004325	Decreased body weight	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001507	HP:0004322	Short stature	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0004322	Short stature	2	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0004324	Increased body weight	2	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0004322	Short stature	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0004325	Decreased body weight	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0004322	Short stature	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0004322	Short stature	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0001507	HP:0004322	Short stature	2	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent		134
HP:0001507	HP:0004322	Short stature	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent		134
HP:0001507	HP:0004325	Decreased body weight	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0001507	HP:0004322	Short stature	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001507	HP:0004325	Decreased body weight	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001507	HP:0001511	Intrauterine growth retardation	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0004322	Short stature	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0004325	Decreased body weight	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0004324	Increased body weight	2	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3			7
HP:0001507	HP:0004325	Decreased body weight	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0001507	HP:0004322	Short stature	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001507	HP:0100556	Hemiatrophy	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0001507	HP:0004322	Short stature	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0004325	Decreased body weight	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0008897	Postnatal growth retardation	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0001507	HP:0004322	Short stature	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0001507	HP:0004322	Short stature	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0001507	HP:0004325	Decreased body weight	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001507	HP:0100559	Lower limb asymmetry	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0100560	Upper limb asymmetry	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0004322	Short stature	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent		51
HP:0001507	HP:0008897	Postnatal growth retardation	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0004322	Short stature	2	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		13
HP:0001507	HP:0004325	Decreased body weight	2	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0001507	HP:0004322	Short stature	2	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.		37
HP:0001507	HP:0004325	Decreased body weight	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001507	HP:0004322	Short stature	2	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		67
HP:0001507	HP:0004325	Decreased body weight	2	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0001507	HP:0004325	Decreased body weight	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0045081	Abnormality of body mass index	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0004324	Increased body weight	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome			55
HP:0001507	HP:0004322	Short stature	2	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		55
HP:0001507	HP:0004325	Decreased body weight	2	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0001507	HP:0000098	Tall stature	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0001507	HP:0000098	Tall stature	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0004322	Short stature	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0001507	HP:0004325	Decreased body weight	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		45
HP:0001507	HP:0000098	Tall stature	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0001507	HP:0004322	Short stature	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0001507	HP:0004322	Short stature	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0001507	HP:0004325	Decreased body weight	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0001507	HP:0100556	Hemiatrophy	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0001507	HP:0004322	Short stature	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0001507	HP:0004322	Short stature	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0001507	HP:0004322	Short stature	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0001507	HP:0004325	Decreased body weight	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0001507	HP:0004322	Short stature	2	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.		2
HP:0001507	HP:0004325	Decreased body weight	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0001507	HP:0004324	Increased body weight	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001507	HP:0004324	Increased body weight	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0001507	HP:0004325	Decreased body weight	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0001507	HP:0000098	Tall stature	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0001507	HP:0004322	Short stature	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0001507	HP:0004324	Increased body weight	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0001507	HP:0004325	Decreased body weight	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0001507	HP:0004322	Short stature	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0001507	HP:0004322	Short stature	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0004325	Decreased body weight	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040282 - Frequent		65
HP:0001507	HP:0000823	Delayed puberty	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0001507	HP:0004322	Short stature	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0004324	Increased body weight	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0001507	HP:0004324	Increased body weight	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0004325	Decreased body weight	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0004322	Short stature	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001507	HP:0004322	Short stature	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0001507	HP:0004325	Decreased body weight	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001507	HP:0004322	Short stature	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001507	HP:0000823	Delayed puberty	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001507	HP:0004325	Decreased body weight	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001507	HP:0004325	Decreased body weight	2	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0001507	HP:0004325	Decreased body weight	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001507	HP:0004325	Decreased body weight	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0001507	HP:0008897	Postnatal growth retardation	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0001507	HP:0000098	Tall stature	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		172
HP:0001507	HP:0004322	Short stature	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0001507	HP:0004324	Increased body weight	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001507	HP:0004325	Decreased body weight	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.		172
HP:0001507	HP:0004322	Short stature	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0004324	Increased body weight	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0004325	Decreased body weight	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0004322	Short stature	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	HP:0040283 - Occasional		6
HP:0001507	HP:0004324	Increased body weight	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0001507	HP:0004322	Short stature	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0001507	HP:0004322	Short stature	2	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	HP:0040283 - Occasional		151
HP:0001507	HP:0100559	Lower limb asymmetry	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0001507	HP:0004322	Short stature	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent			151
HP:0001507	HP:0004325	Decreased body weight	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001507	HP:0004322	Short stature	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.		151
HP:0001507	HP:0004324	Increased body weight	2	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0001507	HP:0000823	Delayed puberty	2	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040282 - Frequent		3
HP:0001507	HP:0000823	Delayed puberty	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive	.		3
HP:0001507	HP:0004325	Decreased body weight	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001507	HP:0004322	Short stature	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0004324	Increased body weight	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0004325	Decreased body weight	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0008897	Postnatal growth retardation	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.		250
HP:0001507	HP:0004322	Short stature	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001507	HP:0004322	Short stature	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0001507	HP:0004324	Increased body weight	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001507	HP:0004325	Decreased body weight	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001507	HP:0008897	Postnatal growth retardation	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0001507	HP:0004325	Decreased body weight	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0001507	HP:0008897	Postnatal growth retardation	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0001507	HP:0004325	Decreased body weight	2	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0001507	HP:0004325	Decreased body weight	2	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital			170
HP:0001507	HP:0004325	Decreased body weight	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0001507	HP:0004322	Short stature	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent		40
HP:0001507	HP:0004325	Decreased body weight	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001507	HP:0008897	Postnatal growth retardation	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001507	HP:0004322	Short stature	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	HP:0040284 - Very rare
HP:0001507	HP:0004325	Decreased body weight	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001507	HP:0004325	Decreased body weight	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0001507	HP:0004322	Short stature	2	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		77
HP:0001507	HP:0004325	Decreased body weight	2	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0001507	HP:0004322	Short stature	2	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		12
HP:0001507	HP:0004325	Decreased body weight	2	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0001507	HP:0004322	Short stature	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0001507	HP:0004325	Decreased body weight	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		20
HP:0001507	HP:0004322	Short stature	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0001507	HP:0004325	Decreased body weight	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		106
HP:0001507	HP:0004322	Short stature	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001507	HP:0004322	Short stature	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0001507	HP:0004325	Decreased body weight	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0001507	HP:0004322	Short stature	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0001507	HP:0004325	Decreased body weight	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0001507	HP:0004322	Short stature	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0001507	HP:0004325	Decreased body weight	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001507	HP:0004322	Short stature	2	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.		54
HP:0001507	HP:0004322	Short stature	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0001507	HP:0004325	Decreased body weight	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0001507	HP:0004322	Short stature	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0001507	HP:0004322	Short stature	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0001507	HP:0004325	Decreased body weight	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0001507	HP:0004325	Decreased body weight	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0001507	HP:0008897	Postnatal growth retardation	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		158
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001507	HP:0004322	Short stature	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		158
HP:0001507	HP:0004325	Decreased body weight	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001507	HP:0004322	Short stature	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.		158
HP:0001507	HP:0004322	Short stature	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0001507	HP:0004325	Decreased body weight	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0001507	HP:0004322	Short stature	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0001507	HP:0004325	Decreased body weight	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0001507	HP:0004322	Short stature	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0001507	HP:0004325	Decreased body weight	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0001507	HP:0004322	Short stature	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0004325	Decreased body weight	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		83
HP:0001507	HP:0004322	Short stature	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0001507	HP:0004322	Short stature	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0001507	HP:0004325	Decreased body weight	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0001507	HP:0004325	Decreased body weight	2	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0001507	HP:0004322	Short stature	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0001507	HP:0004325	Decreased body weight	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0001507	HP:0004325	Decreased body weight	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0001507	HP:0004325	Decreased body weight	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0001507	HP:0008897	Postnatal growth retardation	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		199
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		199
HP:0001507	HP:0008897	Postnatal growth retardation	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0001507	HP:0004322	Short stature	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0004325	Decreased body weight	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0008897	Postnatal growth retardation	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		199
HP:0001507	HP:0004322	Short stature	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0001507	HP:0004322	Short stature	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0001507	HP:0004322	Short stature	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0004325	Decreased body weight	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0008897	Postnatal growth retardation	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0004325	Decreased body weight	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0001507	HP:0008897	Postnatal growth retardation	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		55
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		55
HP:0001507	HP:0008897	Postnatal growth retardation	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0001507	HP:0004322	Short stature	2	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001507	HP:0004324	Increased body weight	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0001507	HP:0004325	Decreased body weight	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0001507	HP:0004322	Short stature	2	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040281 - Very frequent		92
HP:0001507	HP:0004322	Short stature	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0001507	HP:0008897	Postnatal growth retardation	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001507	HP:0008897	Postnatal growth retardation	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent		92
HP:0001507	HP:0000098	Tall stature	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0001507	HP:0004325	Decreased body weight	2	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0001507	HP:0004322	Short stature	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001507	HP:0004325	Decreased body weight	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0001507	HP:0004325	Decreased body weight	2	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0001507	HP:0004322	Short stature	2	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0001507	HP:0004322	Short stature	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0004325	Decreased body weight	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0004322	Short stature	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001507	HP:0004322	Short stature	2	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0001507	HP:0004322	Short stature	2	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0001507	HP:0004322	Short stature	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0004325	Decreased body weight	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0004322	Short stature	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001507	HP:0004322	Short stature	2	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0001507	HP:0004325	Decreased body weight	2	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0001507	HP:0004322	Short stature	2	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0001507	HP:0004322	Short stature	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.		3
HP:0001507	HP:0004324	Increased body weight	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0001507	HP:0004322	Short stature	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0001507	HP:0004325	Decreased body weight	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0001507	HP:0004322	Short stature	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001507	HP:0004325	Decreased body weight	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0001507	HP:0004325	Decreased body weight	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0001507	HP:0004325	Decreased body weight	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001507	HP:0004325	Decreased body weight	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001507	HP:0004322	Short stature	2	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	HP:0040282 - Frequent		96
HP:0001507	HP:0100559	Lower limb asymmetry	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		96
HP:0001507	HP:0004322	Short stature	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		96
HP:0001507	HP:0004322	Short stature	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0001507	HP:0100559	Lower limb asymmetry	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional		102
HP:0001507	HP:0004322	Short stature	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		102
HP:0001507	HP:0000823	Delayed puberty	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		102
HP:0001507	HP:0004322	Short stature	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0001507	HP:0004322	Short stature	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001507	HP:0004322	Short stature	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0001507	HP:0004324	Increased body weight	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0001507	HP:0000098	Tall stature	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0001507	HP:0000098	Tall stature	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0001507	HP:0004325	Decreased body weight	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0001507	HP:0004325	Decreased body weight	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0004322	Short stature	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0008897	Postnatal growth retardation	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0004322	Short stature	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.		8
HP:0001507	HP:0004325	Decreased body weight	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0001507	HP:0004322	Short stature	2	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0001507	HP:0004325	Decreased body weight	2	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0001507	HP:0000823	Delayed puberty	2	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	HP:0040283 - Occasional		6
HP:0001507	HP:0004322	Short stature	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0001507	HP:0004324	Increased body weight	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0001507	HP:0000098	Tall stature	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0001507	HP:0004322	Short stature	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.		35
HP:0001507	HP:0004322	Short stature	2	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	.
HP:0001507	HP:0004325	Decreased body weight	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001507	HP:0004322	Short stature	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0001507	HP:0004322	Short stature	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		340
HP:0001507	HP:0004325	Decreased body weight	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0001507	HP:0004325	Decreased body weight	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001507	HP:0004322	Short stature	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		58
HP:0001507	HP:0004325	Decreased body weight	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001507	HP:0031853	Isomerism	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.		58
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent		58
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001507	HP:0004322	Short stature	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		410
HP:0001507	HP:0004325	Decreased body weight	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001507	HP:0004322	Short stature	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001507	HP:0004325	Decreased body weight	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001507	HP:0004322	Short stature	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		147
HP:0001507	HP:0004325	Decreased body weight	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001507	HP:0004322	Short stature	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.		147
HP:0001507	HP:0004325	Decreased body weight	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001507	HP:0004322	Short stature	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0001507	HP:0004325	Decreased body weight	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0004322	Short stature	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0001507	HP:0004325	Decreased body weight	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001507	HP:0004322	Short stature	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		87
HP:0001507	HP:0004325	Decreased body weight	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0004322	Short stature	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0004325	Decreased body weight	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001507	HP:0004322	Short stature	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0001507	HP:0004325	Decreased body weight	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001507	HP:0004322	Short stature	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		157
HP:0001507	HP:0004325	Decreased body weight	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0001507	HP:0004322	Short stature	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001507	HP:0004325	Decreased body weight	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001507	HP:0004322	Short stature	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		53
HP:0001507	HP:0004325	Decreased body weight	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional		53
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001507	HP:0004322	Short stature	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		107
HP:0001507	HP:0004325	Decreased body weight	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001507	HP:0004322	Short stature	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent		7
HP:0001507	HP:0004322	Short stature	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001507	HP:0000098	Tall stature	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0004322	Short stature	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0004325	Decreased body weight	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0004325	Decreased body weight	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0001507	HP:0004322	Short stature	2	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040282 - Frequent		59
HP:0001507	HP:0004322	Short stature	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0001507	HP:0008897	Postnatal growth retardation	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0001507	HP:0008897	Postnatal growth retardation	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		63
HP:0001507	HP:0000098	Tall stature	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0001507	HP:0000098	Tall stature	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		1361
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	ORPHA:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	HP:0040281 - Very frequent		1361
HP:0001507	HP:0000098	Tall stature	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001507	HP:0000098	Tall stature	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001507	HP:0000098	Tall stature	2	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001507	HP:0004325	Decreased body weight	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001507	HP:0004325	Decreased body weight	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent		1361
HP:0001507	HP:0004322	Short stature	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001507	HP:0000098	Tall stature	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001507	HP:0004325	Decreased body weight	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001507	HP:0000098	Tall stature	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001507	HP:0004322	Short stature	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0001507	HP:0004325	Decreased body weight	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0001507	HP:0000098	Tall stature	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001507	HP:0004322	Short stature	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	HP:0040284 - Very rare		7
HP:0001507	HP:0004324	Increased body weight	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001507	HP:0004325	Decreased body weight	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001507	HP:0004325	Decreased body weight	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001507	HP:0004325	Decreased body weight	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001507	HP:0000823	Delayed puberty	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004324	Increased body weight	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0001507	HP:0000823	Delayed puberty	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0001507	HP:0004322	Short stature	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0004322	Short stature	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent		62
HP:0001507	HP:0004325	Decreased body weight	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0012772	Abnormal upper to lower segment ratio	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0004322	Short stature	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001507	HP:0004325	Decreased body weight	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004322	Short stature	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0000823	Delayed puberty	2	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia	.		3
HP:0001507	HP:0000823	Delayed puberty	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0004324	Increased body weight	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0001507	HP:0000823	Delayed puberty	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0004322	Short stature	2	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.		51
HP:0001507	HP:0000098	Tall stature	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional		18
HP:0001507	HP:0004322	Short stature	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0004325	Decreased body weight	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0001507	HP:0000823	Delayed puberty	2	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia			17
HP:0001507	HP:0000823	Delayed puberty	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		17
HP:0001507	HP:0004324	Increased body weight	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0001507	HP:0004322	Short stature	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0001507	HP:0004325	Decreased body weight	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0001507	HP:0004322	Short stature	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0001507	HP:0004322	Short stature	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0004325	Decreased body weight	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0001507	HP:0000823	Delayed puberty	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		17
HP:0001507	HP:0004325	Decreased body weight	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0001507	HP:0004322	Short stature	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0004325	Decreased body weight	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent		172
HP:0001507	HP:0000823	Delayed puberty	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0001507	HP:0004322	Short stature	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0001507	HP:0000823	Delayed puberty	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		172
HP:0001507	HP:0004324	Increased body weight	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0001507	HP:0004322	Short stature	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0001507	HP:0004325	Decreased body weight	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0001507	HP:0004322	Short stature	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0001507	HP:0000823	Delayed puberty	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		172
HP:0001507	HP:0004325	Decreased body weight	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0001507	HP:0004322	Short stature	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0004325	Decreased body weight	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0004322	Short stature	2	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0004325	Decreased body weight	2	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0004322	Short stature	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		172
HP:0001507	HP:0004325	Decreased body weight	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0001507	HP:0004322	Short stature	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		172
HP:0001507	HP:0004324	Increased body weight	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0001507	HP:0004322	Short stature	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001507	HP:0004322	Short stature	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0001507	HP:0004322	Short stature	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001507	HP:0004324	Increased body weight	2	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0001507	HP:0000098	Tall stature	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent		145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001507	HP:0004322	Short stature	2	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0004322	Short stature	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0004325	Decreased body weight	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0008897	Postnatal growth retardation	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0004325	Decreased body weight	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0001507	HP:0004325	Decreased body weight	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0001507	HP:0004324	Increased body weight	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001507	HP:0000098	Tall stature	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001507	HP:0004324	Increased body weight	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001507	HP:0000098	Tall stature	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0001507	HP:0004324	Increased body weight	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001507	HP:0004322	Short stature	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0001507	HP:0004322	Short stature	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0004325	Decreased body weight	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001507	HP:0004325	Decreased body weight	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0008897	Postnatal growth retardation	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0001507	HP:0004325	Decreased body weight	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001507	HP:0004322	Short stature	2	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		61
HP:0001507	HP:0004322	Short stature	2	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.		61
HP:0001507	HP:0004322	Short stature	2	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0001507	HP:0000098	Tall stature	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0001507	HP:0004322	Short stature	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional		184
HP:0001507	HP:0004322	Short stature	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0004325	Decreased body weight	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0004322	Short stature	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0004325	Decreased body weight	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0001507	HP:0000823	Delayed puberty	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001507	HP:0004325	Decreased body weight	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001507	HP:0004322	Short stature	2	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		493
HP:0001507	HP:0004325	Decreased body weight	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	.		493
HP:0001507	HP:0004322	Short stature	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent		493
HP:0001507	HP:0004325	Decreased body weight	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001507	HP:0004325	Decreased body weight	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0001507	HP:0004322	Short stature	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0001507	HP:0004322	Short stature	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0001507	HP:0008897	Postnatal growth retardation	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0001507	HP:0004322	Short stature	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001507	HP:0004322	Short stature	2	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent		493
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional		233
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0001507	HP:0004322	Short stature	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0001507	HP:0008897	Postnatal growth retardation	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0001507	HP:0000823	Delayed puberty	2	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0001507	HP:0000823	Delayed puberty	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0004324	Increased body weight	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		11
HP:0001507	HP:0004325	Decreased body weight	2	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0001507	HP:0045081	Abnormality of body mass index	2	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		90
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent		30
HP:0001507	HP:0004322	Short stature	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent		30
HP:0001507	HP:0004324	Increased body weight	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001507	HP:0004325	Decreased body weight	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001507	HP:0100559	Lower limb asymmetry	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0001507	HP:0004322	Short stature	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent		9
HP:0001507	HP:0004322	Short stature	2	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.		9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001507	HP:0004325	Decreased body weight	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001507	HP:0000098	Tall stature	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001507	HP:0004325	Decreased body weight	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001507	HP:0000823	Delayed puberty	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0001507	HP:0004322	Short stature	2	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		9
HP:0001507	HP:0000098	Tall stature	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		23
HP:0001507	HP:0004322	Short stature	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0004325	Decreased body weight	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0001507	HP:0004322	Short stature	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0001507	HP:0004325	Decreased body weight	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0001507	HP:0004322	Short stature	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0001507	HP:0004322	Short stature	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0004325	Decreased body weight	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0001507	HP:0004322	Short stature	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0004325	Decreased body weight	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0001507	HP:0004324	Increased body weight	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0001507	HP:0004325	Decreased body weight	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0001507	HP:0004325	Decreased body weight	2	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0001507	HP:0004324	Increased body weight	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0001507	HP:0004325	Decreased body weight	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0001507	HP:0004325	Decreased body weight	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001507	HP:0004325	Decreased body weight	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0001507	HP:0004325	Decreased body weight	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001507	HP:0004325	Decreased body weight	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001507	HP:0004324	Increased body weight	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0001507	HP:0000823	Delayed puberty	2	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent		23
HP:0001507	HP:0000823	Delayed puberty	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		50
HP:0001507	HP:0004322	Short stature	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		50
HP:0001507	HP:0004324	Increased body weight	2	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14			70
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0001507	HP:0004325	Decreased body weight	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001507	HP:0004322	Short stature	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0001507	HP:0004325	Decreased body weight	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0001507	HP:0004325	Decreased body weight	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0001507	HP:0001511	Intrauterine growth retardation	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0001507	HP:0004322	Short stature	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0001507	HP:0004325	Decreased body weight	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001507	HP:0004322	Short stature	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001507	HP:0004324	Increased body weight	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001507	HP:0004322	Short stature	2	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001507	HP:0004322	Short stature	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001507	HP:0004325	Decreased body weight	2	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0001507	HP:0004322	Short stature	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0000823	Delayed puberty	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0001507	HP:0004322	Short stature	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0001507	HP:0004325	Decreased body weight	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001507	HP:0004325	Decreased body weight	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001507	HP:0004322	Short stature	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001507	HP:0004325	Decreased body weight	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001507	HP:0004322	Short stature	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0001507	HP:0004325	Decreased body weight	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001507	HP:0004324	Increased body weight	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001507	HP:0004325	Decreased body weight	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001507	HP:0004322	Short stature	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004322	Short stature	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0001507	HP:0004325	Decreased body weight	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001507	HP:0100559	Lower limb asymmetry	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0004322	Short stature	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0004324	Increased body weight	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001507	HP:0004325	Decreased body weight	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001507	HP:0004322	Short stature	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0001507	HP:0004325	Decreased body weight	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001507	HP:0004325	Decreased body weight	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0001507	HP:0004325	Decreased body weight	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0001507	HP:0004325	Decreased body weight	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0001507	HP:0004325	Decreased body weight	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0001507	HP:0004325	Decreased body weight	2	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency
HP:0001507	HP:0004322	Short stature	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0001507	HP:0004322	Short stature	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001507	HP:0000823	Delayed puberty	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0001507	HP:0004325	Decreased body weight	2	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0001507	HP:0004322	Short stature	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001507	HP:0004322	Short stature	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0001507	HP:0004322	Short stature	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0001507	HP:0004322	Short stature	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0001507	HP:0004322	Short stature	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0001507	HP:0004325	Decreased body weight	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001507	HP:0004322	Short stature	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0001507	HP:0004325	Decreased body weight	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0001507	HP:0008897	Postnatal growth retardation	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0001507	HP:0000823	Delayed puberty	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		87
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040281 - Very frequent		87
HP:0001507	HP:0004322	Short stature	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0001507	HP:0004324	Increased body weight	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001507	HP:0004325	Decreased body weight	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		87
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		10
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0001507	HP:0004325	Decreased body weight	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0001507	HP:0004325	Decreased body weight	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		37
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional		33
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001507	HP:0004325	Decreased body weight	2	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0001507	HP:0004322	Short stature	2	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.		86
HP:0001507	HP:0004325	Decreased body weight	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0001507	HP:0000823	Delayed puberty	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0001507	HP:0000823	Delayed puberty	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001507	HP:0004325	Decreased body weight	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001507	HP:0004325	Decreased body weight	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0001507	HP:0004322	Short stature	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0001507	HP:0004325	Decreased body weight	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0001507	HP:0000823	Delayed puberty	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001507	HP:0004325	Decreased body weight	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001507	HP:0004325	Decreased body weight	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001507	HP:0004325	Decreased body weight	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001507	HP:0004325	Decreased body weight	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent			237
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001507	HP:0004325	Decreased body weight	2	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0001507	HP:0004325	Decreased body weight	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0001507	HP:0004324	Increased body weight	2	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0001507	HP:0004325	Decreased body weight	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0045081	Abnormality of body mass index	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001507	HP:0031853	Isomerism	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		28
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040282 - Frequent		52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent		52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040283 - Occasional		52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C	.		52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent		52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent		52
HP:0001507	HP:0004322	Short stature	2	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0001507	HP:0004322	Short stature	2	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		59
HP:0001507	HP:0004325	Decreased body weight	2	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0001507	HP:0004325	Decreased body weight	2	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare		43
HP:0001507	HP:0004322	Short stature	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001507	HP:0004325	Decreased body weight	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001507	HP:0004322	Short stature	2	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0001507	HP:0004322	Short stature	2	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB	.		50
HP:0001507	HP:0004322	Short stature	2	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II			50
HP:0001507	HP:0004322	Short stature	2	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV			50
HP:0001507	HP:0004322	Short stature	2	GHR CL E G H	2690	4263	OMIM:604271	Growth hormone insensitivity, partial	.		98
HP:0001507	HP:0000823	Delayed puberty	2	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome			98
HP:0001507	HP:0000823	Delayed puberty	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent		98
HP:0001507	HP:0004322	Short stature	2	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome			98
HP:0001507	HP:0004322	Short stature	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0004324	Increased body weight	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0000823	Delayed puberty	2	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency	HP:0040283 - Occasional		98
HP:0001507	HP:0004322	Short stature	2	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency	HP:0040281 - Very frequent		98
HP:0001507	HP:0004322	Short stature	2	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0001507	HP:0004324	Increased body weight	2	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0001507	HP:0004322	Short stature	2	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial	.		37
HP:0001507	HP:0008897	Postnatal growth retardation	2	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial	.		37
HP:0001507	HP:0000823	Delayed puberty	2	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040283 - Occasional		37
HP:0001507	HP:0004322	Short stature	2	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent		37
HP:0001507	HP:0004325	Decreased body weight	2	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent		37
HP:0001507	HP:0004325	Decreased body weight	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0001507	HP:0004322	Short stature	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0001507	HP:0008897	Postnatal growth retardation	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0001507	HP:0004325	Decreased body weight	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001507	HP:0004322	Short stature	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		68
HP:0001507	HP:0004325	Decreased body weight	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0001507	HP:0004322	Short stature	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0001507	HP:0004325	Decreased body weight	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0001507	HP:0004324	Increased body weight	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001507	HP:0004325	Decreased body weight	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		39
HP:0001507	HP:0004324	Increased body weight	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001507	HP:0004325	Decreased body weight	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001507	HP:0004325	Decreased body weight	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0001507	HP:0008897	Postnatal growth retardation	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0001507	HP:0004322	Short stature	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		74
HP:0001507	HP:0004325	Decreased body weight	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0001507	HP:0004322	Short stature	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		12
HP:0001507	HP:0004325	Decreased body weight	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0001507	HP:0004322	Short stature	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0001507	HP:0004325	Decreased body weight	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0001507	HP:0008897	Postnatal growth retardation	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0001507	HP:0004322	Short stature	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0001507	HP:0004325	Decreased body weight	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0001507	HP:0000823	Delayed puberty	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent		291
HP:0001507	HP:0000823	Delayed puberty	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0001507	HP:0004322	Short stature	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent		291
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040284 - Very rare		120
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001507	HP:0004322	Short stature	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001507	HP:0004325	Decreased body weight	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001507	HP:0004322	Short stature	2	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0001507	HP:0004322	Short stature	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0001507	HP:0004322	Short stature	2	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040281 - Very frequent		45
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0004322	Short stature	2	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8			1
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0004325	Decreased body weight	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0001507	HP:0000823	Delayed puberty	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		173
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.		173
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	HP:0040283 - Occasional		173
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0001507	HP:0004325	Decreased body weight	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0004325	Decreased body weight	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0001507	HP:0004322	Short stature	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0004325	Decreased body weight	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0001507	HP:0000098	Tall stature	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		270
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.		270
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0001507	HP:0004322	Short stature	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0001507	HP:0004322	Short stature	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.		270
HP:0001507	HP:0004324	Increased body weight	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0001507	HP:0004325	Decreased body weight	2	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0001507	HP:0004325	Decreased body weight	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0001507	HP:0004322	Short stature	2	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent		69
HP:0001507	HP:0008897	Postnatal growth retardation	2	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent		69
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0001507	HP:0004325	Decreased body weight	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0001507	HP:0000823	Delayed puberty	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0004322	Short stature	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0004325	Decreased body weight	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0004322	Short stature	2	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		24
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0001507	HP:0008897	Postnatal growth retardation	2	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2	HP:0040283 - Occasional		16
HP:0001507	HP:0004324	Increased body weight	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001507	HP:0004325	Decreased body weight	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001507	HP:0100559	Lower limb asymmetry	2	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional		7
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001507	HP:0004322	Short stature	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent		101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0001507	HP:0004322	Short stature	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		101
HP:0001507	HP:0004322	Short stature	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0001507	HP:0004322	Short stature	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB			101
HP:0001507	HP:0004322	Short stature	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0001507	HP:0004322	Short stature	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent		101
HP:0001507	HP:0004322	Short stature	2	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0001507	HP:0004324	Increased body weight	2	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0001507	HP:0004324	Increased body weight	2	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB			1
HP:0001507	HP:0004325	Decreased body weight	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0001507	HP:0004325	Decreased body weight	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001507	HP:0004325	Decreased body weight	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001507	HP:0004322	Short stature	2	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0001507	HP:0004325	Decreased body weight	2	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0001507	HP:0004325	Decreased body weight	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001507	HP:0008897	Postnatal growth retardation	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001507	HP:0004322	Short stature	2	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0001507	HP:0004322	Short stature	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0001507	HP:0004325	Decreased body weight	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001507	HP:0008897	Postnatal growth retardation	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0001507	HP:0004322	Short stature	2	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0001507	HP:0000823	Delayed puberty	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.		15
HP:0001507	HP:0000823	Delayed puberty	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		15
HP:0001507	HP:0004325	Decreased body weight	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0001507	HP:0000823	Delayed puberty	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		92
HP:0001507	HP:0004325	Decreased body weight	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0001507	HP:0004322	Short stature	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0001507	HP:0004322	Short stature	2	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0001507	HP:0004322	Short stature	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0001507	HP:0004322	Short stature	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001507	HP:0004325	Decreased body weight	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0004322	Short stature	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0004324	Increased body weight	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001507	HP:0004325	Decreased body weight	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001507	HP:0004325	Decreased body weight	2	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0001507	HP:0000098	Tall stature	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent		73
HP:0001507	HP:0000098	Tall stature	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.		73
HP:0001507	HP:0004322	Short stature	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040283 - Occasional
HP:0001507	HP:0000098	Tall stature	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0000098	Tall stature	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0001507	HP:0004322	Short stature	2	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent		99
HP:0001507	HP:0004322	Short stature	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001507	HP:0004322	Short stature	2	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.		3
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0004325	Decreased body weight	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0001507	HP:0000098	Tall stature	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0001507	HP:0000098	Tall stature	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001507	HP:0000823	Delayed puberty	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0001507	HP:0004325	Decreased body weight	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0001507	HP:0004325	Decreased body weight	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0001507	HP:0004322	Short stature	2	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0004322	Short stature	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040281 - Very frequent
HP:0001507	HP:0100559	Lower limb asymmetry	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0001507	HP:0008897	Postnatal growth retardation	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.		33
HP:0001507	HP:0000098	Tall stature	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0004322	Short stature	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0004325	Decreased body weight	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0000098	Tall stature	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001507	HP:0004322	Short stature	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0001507	HP:0004325	Decreased body weight	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001507	HP:0004322	Short stature	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0001507	HP:0004325	Decreased body weight	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001507	HP:0004322	Short stature	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0001507	HP:0004325	Decreased body weight	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001507	HP:0004322	Short stature	2	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0001507	HP:0004325	Decreased body weight	2	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0001507	HP:0004322	Short stature	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0001507	HP:0004325	Decreased body weight	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0001507	HP:0004325	Decreased body weight	2	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0001507	HP:0004322	Short stature	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001507	HP:0004325	Decreased body weight	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0004322	Short stature	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0001507	HP:0004325	Decreased body weight	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001507	HP:0004322	Short stature	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001507	HP:0004325	Decreased body weight	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001507	HP:0004322	Short stature	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0001507	HP:0004325	Decreased body weight	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0045081	Abnormality of body mass index	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0004322	Short stature	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	.		2
HP:0001507	HP:0004325	Decreased body weight	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001507	HP:0004322	Short stature	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.		3
HP:0001507	HP:0004325	Decreased body weight	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001507	HP:0004322	Short stature	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004322	Short stature	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004322	Short stature	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001507	HP:0004325	Decreased body weight	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.		30
HP:0001507	HP:0004324	Increased body weight	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0001507	HP:0001511	Intrauterine growth retardation	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0001507	HP:0004325	Decreased body weight	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0001507	HP:0004322	Short stature	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0001507	HP:0008897	Postnatal growth retardation	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0001507	HP:0008897	Postnatal growth retardation	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0001507	HP:0004322	Short stature	2	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional		100
HP:0001507	HP:0004325	Decreased body weight	2	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0001507	HP:0004322	Short stature	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0001507	HP:0001528	Hemihypertrophy	2	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0001507	HP:0004322	Short stature	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001507	HP:0008897	Postnatal growth retardation	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0001507	HP:0100559	Lower limb asymmetry	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		4
HP:0001507	HP:0100560	Upper limb asymmetry	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		4
HP:0001507	HP:0004322	Short stature	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		4
HP:0001507	HP:0008897	Postnatal growth retardation	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		4
HP:0001507	HP:0000098	Tall stature	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001507	HP:0001528	Hemihypertrophy	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0001507	HP:0004325	Decreased body weight	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0001507	HP:0000098	Tall stature	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0004322	Short stature	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0004325	Decreased body weight	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0004322	Short stature	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0001507	HP:0004322	Short stature	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001507	HP:0004325	Decreased body weight	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001507	HP:0004324	Increased body weight	2	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1			8
HP:0001507	HP:0004322	Short stature	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.		2
HP:0001507	HP:0004325	Decreased body weight	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001507	HP:0004322	Short stature	2	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0001507	HP:0004324	Increased body weight	2	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0001507	HP:0004322	Short stature	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0004324	Increased body weight	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0001507	HP:0004322	Short stature	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001507	HP:0004325	Decreased body weight	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001507	HP:0004325	Decreased body weight	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0001507	HP:0004325	Decreased body weight	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0004325	Decreased body weight	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0004325	Decreased body weight	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0004325	Decreased body weight	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0004325	Decreased body weight	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0001507	HP:0004322	Short stature	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		200
HP:0001507	HP:0004325	Decreased body weight	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0001507	HP:0004322	Short stature	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		88
HP:0001507	HP:0004325	Decreased body weight	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0001507	HP:0000823	Delayed puberty	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0001507	HP:0004325	Decreased body weight	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001507	HP:0000823	Delayed puberty	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0001507	HP:0004325	Decreased body weight	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040283 - Occasional		580
HP:0001507	HP:0004322	Short stature	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001507	HP:0004325	Decreased body weight	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001507	HP:0004322	Short stature	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0001507	HP:0004322	Short stature	2	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.		100
HP:0001507	HP:0004325	Decreased body weight	2	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0001507	HP:0004322	Short stature	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0001507	HP:0004325	Decreased body weight	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001507	HP:0004324	Increased body weight	2	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0004322	Short stature	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0001507	HP:0004324	Increased body weight	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0001507	HP:0004322	Short stature	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0001507	HP:0004324	Increased body weight	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0001507	HP:0004322	Short stature	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent		2
HP:0001507	HP:0000823	Delayed puberty	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0001507	HP:0004322	Short stature	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0001507	HP:0004324	Increased body weight	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0004325	Decreased body weight	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0008897	Postnatal growth retardation	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0004322	Short stature	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0001507	HP:0004324	Increased body weight	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0001507	HP:0008897	Postnatal growth retardation	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0001507	HP:0004322	Short stature	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0001507	HP:0004324	Increased body weight	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0001507	HP:0004322	Short stature	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001507	HP:0004324	Increased body weight	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001507	HP:0004324	Increased body weight	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		6
HP:0001507	HP:0000098	Tall stature	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0001507	HP:0004324	Increased body weight	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0001507	HP:0000098	Tall stature	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0001507	HP:0004324	Increased body weight	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0001507	HP:0004325	Decreased body weight	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0001507	HP:0000823	Delayed puberty	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0004322	Short stature	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0004324	Increased body weight	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0004325	Decreased body weight	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		10
HP:0001507	HP:0004322	Short stature	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		10
HP:0001507	HP:0004322	Short stature	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.		10
HP:0001507	HP:0000823	Delayed puberty	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		21
HP:0001507	HP:0004322	Short stature	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0001507	HP:0004322	Short stature	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0001507	HP:0004324	Increased body weight	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0001507	HP:0000823	Delayed puberty	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0004324	Increased body weight	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0001507	HP:0000823	Delayed puberty	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		21
HP:0001507	HP:0004322	Short stature	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0004325	Decreased body weight	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0001507	HP:0004322	Short stature	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		21
HP:0001507	HP:0004324	Increased body weight	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0001507	HP:0004322	Short stature	2	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.		21
HP:0001507	HP:0004325	Decreased body weight	2	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0001507	HP:0000098	Tall stature	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0001507	HP:0045081	Abnormality of body mass index	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0001507	HP:0004325	Decreased body weight	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0001507	HP:0004324	Increased body weight	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0001507	HP:0004322	Short stature	2	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0001507	HP:0004325	Decreased body weight	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001507	HP:0004325	Decreased body weight	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0004322	Short stature	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0004324	Increased body weight	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001507	HP:0004325	Decreased body weight	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001507	HP:0004325	Decreased body weight	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0001507	HP:0004322	Short stature	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001507	HP:0004325	Decreased body weight	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0001507	HP:0004325	Decreased body weight	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001507	HP:0004325	Decreased body weight	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0001507	HP:0004325	Decreased body weight	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0001507	HP:0004325	Decreased body weight	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease			1
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0001507	HP:0000823	Delayed puberty	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0004322	Short stature	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0008897	Postnatal growth retardation	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0001507	HP:0000823	Delayed puberty	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0004322	Short stature	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001507	HP:0008897	Postnatal growth retardation	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0001507	HP:0004324	Increased body weight	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid			2
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001507	HP:0004324	Increased body weight	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0001507	HP:0004325	Decreased body weight	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0001507	HP:0004325	Decreased body weight	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0004322	Short stature	2	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0004325	Decreased body weight	2	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0001507	HP:0004325	Decreased body weight	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001507	HP:0004325	Decreased body weight	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0045081	Abnormality of body mass index	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent			161
HP:0001507	HP:0004324	Increased body weight	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0001507	HP:0004325	Decreased body weight	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0001507	HP:0004324	Increased body weight	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0001507	HP:0004322	Short stature	2	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040282 - Frequent		90
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent			90
HP:0001507	HP:0001528	Hemihypertrophy	2	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040283 - Occasional		90
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent			138
HP:0001507	HP:0004322	Short stature	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.		138
HP:0001507	HP:0004324	Increased body weight	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0001507	HP:0004324	Increased body weight	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0001507	HP:0004324	Increased body weight	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0001507	HP:0004322	Short stature	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		31
HP:0001507	HP:0004322	Short stature	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		5
HP:0001507	HP:0004322	Short stature	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001507	HP:0004325	Decreased body weight	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001507	HP:0004322	Short stature	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001507	HP:0004325	Decreased body weight	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001507	HP:0000098	Tall stature	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0001507	HP:0000098	Tall stature	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0001507	HP:0004322	Short stature	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent		39
HP:0001507	HP:0100560	Upper limb asymmetry	2	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional		25
HP:0001507	HP:0004322	Short stature	2	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent		25
HP:0001507	HP:0004322	Short stature	2	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0001507	HP:0004325	Decreased body weight	2	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA			23
HP:0001507	HP:0004325	Decreased body weight	2	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0001507	HP:0004325	Decreased body weight	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001507	HP:0000098	Tall stature	2	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0001507	HP:0004322	Short stature	2	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0001507	HP:0000098	Tall stature	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001507	HP:0004322	Short stature	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001507	HP:0004322	Short stature	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0001507	HP:0004325	Decreased body weight	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001507	HP:0004325	Decreased body weight	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001507	HP:0001528	Hemihypertrophy	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0001507	HP:0100556	Hemiatrophy	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0001507	HP:0000098	Tall stature	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0001507	HP:0001528	Hemihypertrophy	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0001507	HP:0004322	Short stature	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0001507	HP:0004322	Short stature	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001507	HP:0000823	Delayed puberty	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0004324	Increased body weight	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0001507	HP:0000823	Delayed puberty	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		8
HP:0001507	HP:0004325	Decreased body weight	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0001507	HP:0004324	Increased body weight	2	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2			5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040283 - Occasional		14
HP:0001507	HP:0004322	Short stature	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent		14
HP:0001507	HP:0004322	Short stature	2	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.		14
HP:0001507	HP:0004325	Decreased body weight	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001507	HP:0004325	Decreased body weight	2	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0001507	HP:0004325	Decreased body weight	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001507	HP:0004322	Short stature	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0001507	HP:0004325	Decreased body weight	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0001507	HP:0004325	Decreased body weight	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0001507	HP:0004325	Decreased body weight	2	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0001507	HP:0004322	Short stature	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001507	HP:0100559	Lower limb asymmetry	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001507	HP:0004322	Short stature	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001507	HP:0004324	Increased body weight	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001507	HP:0004325	Decreased body weight	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001507	HP:0000098	Tall stature	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0004322	Short stature	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0004322	Short stature	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0004322	Short stature	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0001507	HP:0004325	Decreased body weight	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001507	HP:0004322	Short stature	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0001507	HP:0004325	Decreased body weight	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0001507	HP:0004325	Decreased body weight	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0001507	HP:0045081	Abnormality of body mass index	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0001507	HP:0004325	Decreased body weight	2	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0001507	HP:0004322	Short stature	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0001507	HP:0004325	Decreased body weight	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0001507	HP:0004322	Short stature	2	HYAL1 CL E G H	3373	5320	ORPHA:67041	Hyaluronidase deficiency	HP:0040281 - Very frequent		28
HP:0001507	HP:0004322	Short stature	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX			28
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.		31
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0001507	HP:0004325	Decreased body weight	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001507	HP:0008897	Postnatal growth retardation	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0004322	Short stature	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0001507	HP:0004325	Decreased body weight	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0001507	HP:0008897	Postnatal growth retardation	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0001507	HP:0004322	Short stature	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0001507	HP:0004322	Short stature	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0001507	HP:0004325	Decreased body weight	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0004322	Short stature	2	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0004322	Short stature	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0004325	Decreased body weight	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0004322	Short stature	2	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		29
HP:0001507	HP:0004324	Increased body weight	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0004324	Increased body weight	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0001507	HP:0004322	Short stature	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent		86
HP:0001507	HP:0004322	Short stature	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0001507	HP:0004322	Short stature	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0001507	HP:0004322	Short stature	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0001507	HP:0004322	Short stature	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0001507	HP:0004322	Short stature	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0001507	HP:0004322	Short stature	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040281 - Very frequent		115
HP:0001507	HP:0004322	Short stature	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0001507	HP:0004325	Decreased body weight	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001507	HP:0004322	Short stature	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001507	HP:0004325	Decreased body weight	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001507	HP:0004322	Short stature	2	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.		8
HP:0001507	HP:0004325	Decreased body weight	2	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0001507	HP:0004325	Decreased body weight	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0001507	HP:0004325	Decreased body weight	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0001507	HP:0004322	Short stature	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0001507	HP:0004322	Short stature	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001507	HP:0004322	Short stature	2	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		148
HP:0001507	HP:0004324	Increased body weight	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0001507	HP:0004322	Short stature	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0001507	HP:0004325	Decreased body weight	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0004322	Short stature	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		48
HP:0001507	HP:0004324	Increased body weight	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0001507	HP:0004324	Increased body weight	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001507	HP:0004322	Short stature	2	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		48
HP:0001507	HP:0004324	Increased body weight	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0004322	Short stature	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0001507	HP:0004324	Increased body weight	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001507	HP:0004322	Short stature	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0001507	HP:0004324	Increased body weight	2	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19			1
HP:0001507	HP:0004322	Short stature	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0001507	HP:0004322	Short stature	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.		11
HP:0001507	HP:0004322	Short stature	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0001507	HP:0004322	Short stature	2	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.		4
HP:0001507	HP:0004322	Short stature	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0001507	HP:0004322	Short stature	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0004324	Increased body weight	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0001507	HP:0004324	Increased body weight	2	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0001507	HP:0004322	Short stature	2	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2			65
HP:0001507	HP:0004322	Short stature	2	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		65
HP:0001507	HP:0004322	Short stature	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001507	HP:0004324	Increased body weight	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0004322	Short stature	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0004322	Short stature	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0001507	HP:0004322	Short stature	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0001507	HP:0004324	Increased body weight	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001507	HP:0004325	Decreased body weight	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001507	HP:0008897	Postnatal growth retardation	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0001507	HP:0004322	Short stature	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0001507	HP:0004325	Decreased body weight	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0001507	HP:0008897	Postnatal growth retardation	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040281 - Very frequent		268
HP:0001507	HP:0004322	Short stature	2	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040281 - Very frequent		268
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001507	HP:0004322	Short stature	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001507	HP:0004324	Increased body weight	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001507	HP:0004325	Decreased body weight	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001507	HP:0000098	Tall stature	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001507	HP:0001528	Hemihypertrophy	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0001507	HP:0004322	Short stature	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0001507	HP:0004325	Decreased body weight	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0001507	HP:0001528	Hemihypertrophy	2	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent		9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0001507	HP:0004325	Decreased body weight	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0001507	HP:0004322	Short stature	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0001507	HP:0004325	Decreased body weight	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001507	HP:0008897	Postnatal growth retardation	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		9
HP:0001507	HP:0004325	Decreased body weight	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001507	HP:0008897	Postnatal growth retardation	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		9
HP:0001507	HP:0100559	Lower limb asymmetry	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		9
HP:0001507	HP:0100560	Upper limb asymmetry	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		9
HP:0001507	HP:0004322	Short stature	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		9
HP:0001507	HP:0004325	Decreased body weight	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		9
HP:0001507	HP:0008897	Postnatal growth retardation	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		9
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0000823	Delayed puberty	2	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0001507	HP:0008897	Postnatal growth retardation	2	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0001507	HP:0000823	Delayed puberty	2	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040281 - Very frequent		53
HP:0001507	HP:0004324	Increased body weight	2	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0001507	HP:0004325	Decreased body weight	2	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0001507	HP:0004325	Decreased body weight	2	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0001507	HP:0004325	Decreased body weight	2	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0001507	HP:0004325	Decreased body weight	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0001507	HP:0004325	Decreased body weight	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001507	HP:0004325	Decreased body weight	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001507	HP:0004325	Decreased body weight	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0001507	HP:0004324	Increased body weight	2	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement			12
HP:0001507	HP:0004322	Short stature	2	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040281 - Very frequent		44
HP:0001507	HP:0004322	Short stature	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0004322	Short stature	2	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent		44
HP:0001507	HP:0004322	Short stature	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1			44
HP:0001507	HP:0004325	Decreased body weight	2	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15			4
HP:0001507	HP:0004322	Short stature	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0001507	HP:0004322	Short stature	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0001507	HP:0004325	Decreased body weight	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0001507	HP:0004325	Decreased body weight	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0001507	HP:0004325	Decreased body weight	2	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0004322	Short stature	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0001507	HP:0004325	Decreased body weight	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001507	HP:0004325	Decreased body weight	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001507	HP:0004325	Decreased body weight	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0001507	HP:0000823	Delayed puberty	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0004324	Increased body weight	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0004325	Decreased body weight	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001507	HP:0004325	Decreased body weight	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11			3
HP:0001507	HP:0004325	Decreased body weight	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0001507	HP:0004325	Decreased body weight	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0001507	HP:0004325	Decreased body weight	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001507	HP:0004325	Decreased body weight	2	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0008897	Postnatal growth retardation	2	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0004325	Decreased body weight	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0008897	Postnatal growth retardation	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0001507	HP:0004325	Decreased body weight	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001507	HP:0004325	Decreased body weight	2	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0008897	Postnatal growth retardation	2	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0004325	Decreased body weight	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0008897	Postnatal growth retardation	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004325	Decreased body weight	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001507	HP:0004325	Decreased body weight	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked			48
HP:0001507	HP:0004325	Decreased body weight	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent			2
HP:0001507	HP:0004325	Decreased body weight	2	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			2
HP:0001507	HP:0004322	Short stature	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001507	HP:0004325	Decreased body weight	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001507	HP:0004325	Decreased body weight	2	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0001507	HP:0004325	Decreased body weight	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0001507	HP:0004324	Increased body weight	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0001507	HP:0004324	Increased body weight	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0001507	HP:0004324	Increased body weight	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0001507	HP:0004324	Increased body weight	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0001507	HP:0004324	Increased body weight	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0001507	HP:0004322	Short stature	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0001507	HP:0004322	Short stature	2	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0001507	HP:0004322	Short stature	2	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0001507	HP:0004322	Short stature	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001507	HP:0004322	Short stature	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001507	HP:0004325	Decreased body weight	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0001507	HP:0001511	Intrauterine growth retardation	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0001507	HP:0004325	Decreased body weight	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0001507	HP:0001511	Intrauterine growth retardation	2	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0001507	HP:0001511	Intrauterine growth retardation	2	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0001507	HP:0004324	Increased body weight	2	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0001507	HP:0001511	Intrauterine growth retardation	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0001507	HP:0004325	Decreased body weight	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0001507	HP:0008897	Postnatal growth retardation	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0001507	HP:0000823	Delayed puberty	2	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent		229
HP:0001507	HP:0001511	Intrauterine growth retardation	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0001507	HP:0004325	Decreased body weight	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0001507	HP:0008897	Postnatal growth retardation	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent		229
HP:0001507	HP:0004322	Short stature	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0001507	HP:0004325	Decreased body weight	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0001507	HP:0001511	Intrauterine growth retardation	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0001507	HP:0004322	Short stature	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0001507	HP:0008897	Postnatal growth retardation	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001507	HP:0004322	Short stature	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001507	HP:0004322	Short stature	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0001507	HP:0004322	Short stature	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001507	HP:0004325	Decreased body weight	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001507	HP:0004322	Short stature	2	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		106
HP:0001507	HP:0000098	Tall stature	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001507	HP:0004325	Decreased body weight	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001507	HP:0000823	Delayed puberty	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004324	Increased body weight	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004325	Decreased body weight	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0001507	HP:0004322	Short stature	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001507	HP:0004324	Increased body weight	2	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0001507	HP:0000823	Delayed puberty	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		119
HP:0001507	HP:0004322	Short stature	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0001507	HP:0004324	Increased body weight	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001507	HP:0004325	Decreased body weight	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001507	HP:0004325	Decreased body weight	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0001507	HP:0004325	Decreased body weight	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0001507	HP:0004325	Decreased body weight	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001507	HP:0004325	Decreased body weight	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001507	HP:0004325	Decreased body weight	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent			5
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0004322	Short stature	2	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0001507	HP:0004322	Short stature	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0004325	Decreased body weight	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0004325	Decreased body weight	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0001507	HP:0004325	Decreased body weight	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001507	HP:0004322	Short stature	2	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35	.		8
HP:0001507	HP:0004325	Decreased body weight	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001507	HP:0001511	Intrauterine growth retardation	2	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		257
HP:0001507	HP:0004322	Short stature	2	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	HP:0040283 - Occasional		8
HP:0001507	HP:0004325	Decreased body weight	2	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive			8
HP:0001507	HP:0004322	Short stature	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0001507	HP:0004325	Decreased body weight	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0001507	HP:0004325	Decreased body weight	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0001507	HP:0004325	Decreased body weight	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0001507	HP:0004325	Decreased body weight	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0001507	HP:0004325	Decreased body weight	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0001507	HP:0004325	Decreased body weight	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0001507	HP:0004325	Decreased body weight	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0001507	HP:0001511	Intrauterine growth retardation	2	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0004322	Short stature	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004324	Increased body weight	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0001507	HP:0004325	Decreased body weight	2	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0001507	HP:0000098	Tall stature	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001507	HP:0004325	Decreased body weight	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001507	HP:0008897	Postnatal growth retardation	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0001507	HP:0004322	Short stature	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001507	HP:0004325	Decreased body weight	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001507	HP:0000098	Tall stature	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001507	HP:0004325	Decreased body weight	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001507	HP:0008897	Postnatal growth retardation	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0001507	HP:0004325	Decreased body weight	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001507	HP:0100559	Lower limb asymmetry	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001507	HP:0004322	Short stature	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0001507	HP:0004322	Short stature	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001507	HP:0004325	Decreased body weight	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001507	HP:0004322	Short stature	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional		141
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		10
HP:0001507	HP:0004322	Short stature	2	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0001507	HP:0000098	Tall stature	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001507	HP:0004325	Decreased body weight	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001507	HP:0004325	Decreased body weight	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001507	HP:0004322	Short stature	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001507	HP:0004325	Decreased body weight	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0004322	Short stature	2	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0001507	HP:0004325	Decreased body weight	2	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0001507	HP:0100559	Lower limb asymmetry	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0004322	Short stature	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0004324	Increased body weight	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001507	HP:0004322	Short stature	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0001507	HP:0004325	Decreased body weight	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001507	HP:0004322	Short stature	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040284 - Very rare		17
HP:0001507	HP:0004322	Short stature	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0001507	HP:0004322	Short stature	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001507	HP:0004325	Decreased body weight	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001507	HP:0004322	Short stature	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	HP:0040283 - Occasional		121
HP:0001507	HP:0004324	Increased body weight	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001507	HP:0004324	Increased body weight	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent			127
HP:0001507	HP:0004324	Increased body weight	2	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0001507	HP:0004325	Decreased body weight	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0001507	HP:0004324	Increased body weight	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0001507	HP:0004325	Decreased body weight	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0001507	HP:0004324	Increased body weight	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001507	HP:0004325	Decreased body weight	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001507	HP:0004325	Decreased body weight	2	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0001507	HP:0004322	Short stature	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0001507	HP:0004322	Short stature	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent		193
HP:0001507	HP:0004322	Short stature	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent		128
HP:0001507	HP:0004325	Decreased body weight	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0001507	HP:0004325	Decreased body weight	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0001507	HP:0008897	Postnatal growth retardation	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0004322	Short stature	2	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0001507	HP:0004325	Decreased body weight	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0045081	Abnormality of body mass index	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0000098	Tall stature	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001507	HP:0001528	Hemihypertrophy	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0001507	HP:0000098	Tall stature	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001507	HP:0001528	Hemihypertrophy	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0001507	HP:0001528	Hemihypertrophy	2	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent		1
HP:0001507	HP:0004322	Short stature	2	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001507	HP:0004322	Short stature	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0001507	HP:0004322	Short stature	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001507	HP:0004322	Short stature	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0001507	HP:0004325	Decreased body weight	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0001507	HP:0004322	Short stature	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040282 - Frequent		81
HP:0001507	HP:0004322	Short stature	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0001507	HP:0004324	Increased body weight	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0001507	HP:0004325	Decreased body weight	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0001507	HP:0004322	Short stature	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0001507	HP:0008897	Postnatal growth retardation	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0004322	Short stature	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0004325	Decreased body weight	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0008897	Postnatal growth retardation	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		40
HP:0001507	HP:0004322	Short stature	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0001507	HP:0004322	Short stature	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0001507	HP:0004325	Decreased body weight	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0004322	Short stature	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0001507	HP:0004322	Short stature	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0001507	HP:0004322	Short stature	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0001507	HP:0004324	Increased body weight	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0004324	Increased body weight	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001507	HP:0004324	Increased body weight	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0001507	HP:0004322	Short stature	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001507	HP:0004322	Short stature	2	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.		9
HP:0001507	HP:0004322	Short stature	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	HP:0040284 - Very rare		9
HP:0001507	HP:0004322	Short stature	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001507	HP:0008897	Postnatal growth retardation	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	HP:0040283 - Occasional		276
HP:0001507	HP:0004325	Decreased body weight	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0001507	HP:0004325	Decreased body weight	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0001507	HP:0004322	Short stature	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0001507	HP:0008897	Postnatal growth retardation	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.		14
HP:0001507	HP:0004322	Short stature	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040281 - Very frequent		14
HP:0001507	HP:0004325	Decreased body weight	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0001507	HP:0004322	Short stature	2	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040284 - Very rare		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	HP:0040283 - Occasional		15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001507	HP:0000098	Tall stature	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional		167
HP:0001507	HP:0004325	Decreased body weight	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0001507	HP:0008897	Postnatal growth retardation	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.		167
HP:0001507	HP:0004322	Short stature	2	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040282 - Frequent		167
HP:0001507	HP:0004322	Short stature	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0001507	HP:0004325	Decreased body weight	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0001507	HP:0004322	Short stature	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0000823	Delayed puberty	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0001507	HP:0000823	Delayed puberty	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		14
HP:0001507	HP:0004325	Decreased body weight	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0001507	HP:0004322	Short stature	2	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	HP:0003581 - Adult onset	14
HP:0001507	HP:0004325	Decreased body weight	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0001507	HP:0004324	Increased body weight	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0001507	HP:0004322	Short stature	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0001507	HP:0004325	Decreased body weight	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0001507	HP:0004324	Increased body weight	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0001507	HP:0000098	Tall stature	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001507	HP:0004325	Decreased body weight	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001507	HP:0004324	Increased body weight	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0001507	HP:0004322	Short stature	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0001507	HP:0004322	Short stature	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0001507	HP:0004322	Short stature	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0001507	HP:0004325	Decreased body weight	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0004325	Decreased body weight	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0008897	Postnatal growth retardation	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0001507	HP:0001511	Intrauterine growth retardation	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0001507	HP:0004322	Short stature	2	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0001507	HP:0004322	Short stature	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0001507	HP:0000098	Tall stature	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0001507	HP:0004322	Short stature	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0001507	HP:0004324	Increased body weight	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0001507	HP:0004325	Decreased body weight	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0001507	HP:0004322	Short stature	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0001507	HP:0004324	Increased body weight	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0001507	HP:0004325	Decreased body weight	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0001507	HP:0004322	Short stature	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0001507	HP:0008897	Postnatal growth retardation	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0001507	HP:0004325	Decreased body weight	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0001507	HP:0004322	Short stature	2	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		112
HP:0001507	HP:0004322	Short stature	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0001507	HP:0004325	Decreased body weight	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001507	HP:0004325	Decreased body weight	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0001507	HP:0004325	Decreased body weight	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0001507	HP:0004322	Short stature	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0001507	HP:0004322	Short stature	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001507	HP:0100559	Lower limb asymmetry	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0001507	HP:0000098	Tall stature	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0001507	HP:0001528	Hemihypertrophy	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0001507	HP:0004322	Short stature	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0001507	HP:0004325	Decreased body weight	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0001507	HP:0004325	Decreased body weight	2	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0001507	HP:0004325	Decreased body weight	2	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0001507	HP:0004322	Short stature	2	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0001507	HP:0004325	Decreased body weight	2	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0001507	HP:0004325	Decreased body weight	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0001507	HP:0004325	Decreased body weight	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0001507	HP:0004325	Decreased body weight	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0001507	HP:0004325	Decreased body weight	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0001507	HP:0004325	Decreased body weight	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0001507	HP:0004325	Decreased body weight	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0001507	HP:0004325	Decreased body weight	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0001507	HP:0004322	Short stature	2	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.		5
HP:0001507	HP:0004322	Short stature	2	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0001507	HP:0004322	Short stature	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent		134
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0001507	HP:0004322	Short stature	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0001507	HP:0004325	Decreased body weight	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0001507	HP:0004325	Decreased body weight	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0001507	HP:0004325	Decreased body weight	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001507	HP:0004325	Decreased body weight	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0001507	HP:0004325	Decreased body weight	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0001507	HP:0004325	Decreased body weight	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0001507	HP:0004325	Decreased body weight	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0001507	HP:0004322	Short stature	2	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.		1
HP:0001507	HP:0004322	Short stature	2	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	HP:0040281 - Very frequent		1
HP:0001507	HP:0004322	Short stature	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0001507	HP:0004322	Short stature	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0001507	HP:0004325	Decreased body weight	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0001507	HP:0008897	Postnatal growth retardation	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040281 - Very frequent		16
HP:0001507	HP:0004325	Decreased body weight	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0001507	HP:0000098	Tall stature	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001507	HP:0004324	Increased body weight	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001507	HP:0004322	Short stature	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0004324	Increased body weight	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0001507	HP:0004324	Increased body weight	2	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0001507	HP:0004325	Decreased body weight	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0001507	HP:0004322	Short stature	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001507	HP:0004322	Short stature	2	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001507	HP:0004322	Short stature	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0004325	Decreased body weight	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0004322	Short stature	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0004325	Decreased body weight	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001507	HP:0004322	Short stature	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0004322	Short stature	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0004325	Decreased body weight	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0001507	HP:0004322	Short stature	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0004324	Increased body weight	2	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction			47
HP:0001507	HP:0004324	Increased body weight	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0001507	HP:0000823	Delayed puberty	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.		46
HP:0001507	HP:0004322	Short stature	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.		46
HP:0001507	HP:0004324	Increased body weight	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0001507	HP:0004324	Increased body weight	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0001507	HP:0000098	Tall stature	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		13
HP:0001507	HP:0004322	Short stature	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		13
HP:0001507	HP:0004322	Short stature	2	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.		13
HP:0001507	HP:0004322	Short stature	2	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001507	HP:0004325	Decreased body weight	2	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001507	HP:0000823	Delayed puberty	2	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL			1
HP:0001507	HP:0000823	Delayed puberty	2	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia			9
HP:0001507	HP:0000098	Tall stature	2	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040281 - Very frequent		67
HP:0001507	HP:0004322	Short stature	2	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.		51
HP:0001507	HP:0004322	Short stature	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0001507	HP:0004324	Increased body weight	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0001507	HP:0004322	Short stature	2	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent		51
HP:0001507	HP:0000823	Delayed puberty	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		43
HP:0001507	HP:0004322	Short stature	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0001507	HP:0004322	Short stature	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0001507	HP:0004324	Increased body weight	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0001507	HP:0004322	Short stature	2	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0001507	HP:0008897	Postnatal growth retardation	2	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0001507	HP:0000823	Delayed puberty	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		43
HP:0001507	HP:0004322	Short stature	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		43
HP:0001507	HP:0004325	Decreased body weight	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0001507	HP:0004322	Short stature	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0001507	HP:0004322	Short stature	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	HP:0003593 - Infantile onset	144
HP:0001507	HP:0004325	Decreased body weight	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		88
HP:0001507	HP:0004322	Short stature	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		88
HP:0001507	HP:0008897	Postnatal growth retardation	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		88
HP:0001507	HP:0004325	Decreased body weight	2	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0001507	HP:0004325	Decreased body weight	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001507	HP:0004322	Short stature	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0001507	HP:0004325	Decreased body weight	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001507	HP:0004325	Decreased body weight	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent			35
HP:0001507	HP:0004324	Increased body weight	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001507	HP:0004322	Short stature	2	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001507	HP:0004322	Short stature	2	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent		106
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0001507	HP:0004325	Decreased body weight	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0001507	HP:0004322	Short stature	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001507	HP:0004325	Decreased body weight	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001507	HP:0000823	Delayed puberty	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0001507	HP:0004322	Short stature	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0001507	HP:0004325	Decreased body weight	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0001507	HP:0004324	Increased body weight	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001507	HP:0004324	Increased body weight	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001507	HP:0004325	Decreased body weight	2	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001507	HP:0000823	Delayed puberty	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001507	HP:0004325	Decreased body weight	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001507	HP:0008897	Postnatal growth retardation	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0001507	HP:0004322	Short stature	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0001507	HP:0004325	Decreased body weight	2	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001507	HP:0004322	Short stature	2	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040281 - Very frequent		44
HP:0001507	HP:0004322	Short stature	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001507	HP:0004325	Decreased body weight	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001507	HP:0004322	Short stature	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0001507	HP:0004322	Short stature	2	LMX1B CL E G H	4010	6654	ORPHA:2613	Nail-patella-like renal disease	HP:0040281 - Very frequent		165
HP:0001507	HP:0004322	Short stature	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001507	HP:0004322	Short stature	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		8
HP:0001507	HP:0004325	Decreased body weight	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001507	HP:0000098	Tall stature	2	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional		6
HP:0001507	HP:0000098	Tall stature	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		6
HP:0001507	HP:0004322	Short stature	2	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0001507	HP:0000823	Delayed puberty	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001507	HP:0004325	Decreased body weight	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001507	HP:0004324	Increased body weight	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0001507	HP:0004325	Decreased body weight	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001507	HP:0004325	Decreased body weight	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001507	HP:0000098	Tall stature	2	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		124
HP:0001507	HP:0004322	Short stature	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0001507	HP:0004322	Short stature	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0001507	HP:0004325	Decreased body weight	2	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0001507	HP:0004325	Decreased body weight	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0001507	HP:0004325	Decreased body weight	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001507	HP:0004325	Decreased body weight	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0001507	HP:0004325	Decreased body weight	2	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0001507	HP:0004325	Decreased body weight	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0001507	HP:0004322	Short stature	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0001507	HP:0004322	Short stature	2	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent		123
HP:0001507	HP:0004322	Short stature	2	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.		123
HP:0001507	HP:0004322	Short stature	2	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0001507	HP:0004322	Short stature	2	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.		12
HP:0001507	HP:0004322	Short stature	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0001507	HP:0004325	Decreased body weight	2	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0001507	HP:0100559	Lower limb asymmetry	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004324	Increased body weight	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0001507	HP:0004325	Decreased body weight	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0001507	HP:0004322	Short stature	2	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001507	HP:0004322	Short stature	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		4
HP:0001507	HP:0004324	Increased body weight	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0001507	HP:0004324	Increased body weight	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001507	HP:0004322	Short stature	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0001507	HP:0004322	Short stature	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001507	HP:0004322	Short stature	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001507	HP:0004322	Short stature	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0001507	HP:0004322	Short stature	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	HP:0040284 - Very rare		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0004322	Short stature	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001507	HP:0004322	Short stature	2	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001507	HP:0004322	Short stature	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001507	HP:0004325	Decreased body weight	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001507	HP:0004325	Decreased body weight	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0001507	HP:0004322	Short stature	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0001507	HP:0008897	Postnatal growth retardation	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0004322	Short stature	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	HP:0003593 - Infantile onset	21
HP:0001507	HP:0004325	Decreased body weight	2	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0001507	HP:0004322	Short stature	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0001507	HP:0004324	Increased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0001507	HP:0004325	Decreased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001507	HP:0000823	Delayed puberty	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0004322	Short stature	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0004324	Increased body weight	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0004325	Decreased body weight	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0004322	Short stature	2	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0001507	HP:0004324	Increased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001507	HP:0000823	Delayed puberty	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0001507	HP:0004322	Short stature	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0001507	HP:0004324	Increased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001507	HP:0004325	Decreased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001507	HP:0000823	Delayed puberty	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0001507	HP:0004322	Short stature	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0001507	HP:0004324	Increased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001507	HP:0004325	Decreased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001507	HP:0000823	Delayed puberty	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0001507	HP:0004322	Short stature	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0001507	HP:0004324	Increased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001507	HP:0004325	Decreased body weight	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001507	HP:0004322	Short stature	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0001507	HP:0004324	Increased body weight	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001507	HP:0004325	Decreased body weight	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001507	HP:0004324	Increased body weight	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0001507	HP:0004325	Decreased body weight	2	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0001507	HP:0004325	Decreased body weight	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias			5
HP:0001507	HP:0004324	Increased body weight	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0001507	HP:0004322	Short stature	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0004324	Increased body weight	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0000098	Tall stature	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0001507	HP:0004322	Short stature	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0001507	HP:0004325	Decreased body weight	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001507	HP:0004322	Short stature	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001507	HP:0004325	Decreased body weight	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001507	HP:0004322	Short stature	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001507	HP:0004325	Decreased body weight	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001507	HP:0008897	Postnatal growth retardation	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0001507	HP:0004322	Short stature	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0001507	HP:0004325	Decreased body weight	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001507	HP:0004322	Short stature	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0001507	HP:0004322	Short stature	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		178
HP:0001507	HP:0000823	Delayed puberty	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		13
HP:0001507	HP:0004325	Decreased body weight	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001507	HP:0004322	Short stature	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0001507	HP:0004322	Short stature	2	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0004325	Decreased body weight	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0000823	Delayed puberty	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0100559	Lower limb asymmetry	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0004322	Short stature	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0001507	HP:0004324	Increased body weight	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001507	HP:0004322	Short stature	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0004325	Decreased body weight	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0100559	Lower limb asymmetry	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0001507	HP:0100560	Upper limb asymmetry	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0001507	HP:0004322	Short stature	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0001507	HP:0004322	Short stature	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional		4
HP:0001507	HP:0004325	Decreased body weight	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001507	HP:0004322	Short stature	2	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.		25
HP:0001507	HP:0008897	Postnatal growth retardation	2	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		21
HP:0001507	HP:0008897	Postnatal growth retardation	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0001507	HP:0004322	Short stature	2	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	HP:0040284 - Very rare		1
HP:0001507	HP:0000098	Tall stature	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		13
HP:0001507	HP:0004322	Short stature	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0001507	HP:0004322	Short stature	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0001507	HP:0004322	Short stature	2	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0001507	HP:0004322	Short stature	2	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0001507	HP:0004322	Short stature	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0001507	HP:0004322	Short stature	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0001507	HP:0008897	Postnatal growth retardation	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0001507	HP:0004325	Decreased body weight	2	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency			54
HP:0001507	HP:0004322	Short stature	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0001507	HP:0004325	Decreased body weight	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent		22
HP:0001507	HP:0004322	Short stature	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0001507	HP:0004325	Decreased body weight	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0001507	HP:0004322	Short stature	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0001507	HP:0004322	Short stature	2	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0001507	HP:0000098	Tall stature	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional		94
HP:0001507	HP:0004325	Decreased body weight	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0001507	HP:0000098	Tall stature	2	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.		94
HP:0001507	HP:0004325	Decreased body weight	2	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0001507	HP:0004324	Increased body weight	2	MC3R CL E G H	4159	6931	OMIM:602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9			2
HP:0001507	HP:0000098	Tall stature	2	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0001507	HP:0004324	Increased body weight	2	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0001507	HP:0004324	Increased body weight	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0001507	HP:0004325	Decreased body weight	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0001507	HP:0004325	Decreased body weight	2	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0001507	HP:0004325	Decreased body weight	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0001507	HP:0004325	Decreased body weight	2	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0001507	HP:0004325	Decreased body weight	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0001507	HP:0004322	Short stature	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	HP:0040284 - Very rare		3
HP:0001507	HP:0004324	Increased body weight	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0004322	Short stature	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0004325	Decreased body weight	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0008897	Postnatal growth retardation	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0001507	HP:0004325	Decreased body weight	2	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0001507	HP:0004322	Short stature	2	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4	.		4
HP:0001507	HP:0004325	Decreased body weight	2	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4	.		4
HP:0001507	HP:0004322	Short stature	2	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		155
HP:0001507	HP:0004322	Short stature	2	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1	HP:0040283 - Occasional	HP:0003593 - Infantile onset	155
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001507	HP:0008897	Postnatal growth retardation	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0001507	HP:0004325	Decreased body weight	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0001507	HP:0004322	Short stature	2	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0001507	HP:0004325	Decreased body weight	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0001507	HP:0004325	Decreased body weight	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0001507	HP:0004324	Increased body weight	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0001507	HP:0004322	Short stature	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent		950
HP:0001507	HP:0004322	Short stature	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0001507	HP:0004325	Decreased body weight	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0001507	HP:0004325	Decreased body weight	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0001507	HP:0004322	Short stature	2	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent		950
HP:0001507	HP:0004324	Increased body weight	2	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0001507	HP:0004325	Decreased body weight	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0001507	HP:0004325	Decreased body weight	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0001507	HP:0000098	Tall stature	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001507	HP:0004322	Short stature	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0001507	HP:0004325	Decreased body weight	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001507	HP:0004322	Short stature	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001507	HP:0004325	Decreased body weight	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001507	HP:0000098	Tall stature	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0001507	HP:0000098	Tall stature	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001507	HP:0004325	Decreased body weight	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0001507	HP:0004322	Short stature	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	HP:0003593 - Infantile onset	228
HP:0001507	HP:0004322	Short stature	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0001507	HP:0004325	Decreased body weight	2	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0001507	HP:0004325	Decreased body weight	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0001507	HP:0000098	Tall stature	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0004324	Increased body weight	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0004325	Decreased body weight	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040284 - Very rare		1
HP:0001507	HP:0008897	Postnatal growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0001507	HP:0000098	Tall stature	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare		1
HP:0001507	HP:0004322	Short stature	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001507	HP:0004324	Increased body weight	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0004325	Decreased body weight	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0001507	HP:0004324	Increased body weight	2	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001507	HP:0004324	Increased body weight	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0001507	HP:0004324	Increased body weight	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001507	HP:0004322	Short stature	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0004322	Short stature	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0001507	HP:0004324	Increased body weight	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0001507	HP:0000098	Tall stature	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0001507	HP:0004325	Decreased body weight	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0001507	HP:0000098	Tall stature	2	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		462
HP:0001507	HP:0000823	Delayed puberty	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0001507	HP:0004324	Increased body weight	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001507	HP:0004322	Short stature	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0001507	HP:0004322	Short stature	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		45
HP:0001507	HP:0004322	Short stature	2	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0001507	HP:0004322	Short stature	2	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0004322	Short stature	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004322	Short stature	2	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001507	HP:0000098	Tall stature	2	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001507	HP:0000098	Tall stature	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		11
HP:0001507	HP:0004322	Short stature	2	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		5
HP:0001507	HP:0004322	Short stature	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0001507	HP:0004325	Decreased body weight	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001507	HP:0008897	Postnatal growth retardation	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0001507	HP:0004325	Decreased body weight	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001507	HP:0004322	Short stature	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040283 - Occasional		33
HP:0001507	HP:0004322	Short stature	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0004324	Increased body weight	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0004325	Decreased body weight	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001507	HP:0004322	Short stature	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0001507	HP:0004325	Decreased body weight	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0045081	Abnormality of body mass index	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0004325	Decreased body weight	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001507	HP:0004322	Short stature	2	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0001507	HP:0004322	Short stature	2	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		69
HP:0001507	HP:0004324	Increased body weight	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0001507	HP:0004324	Increased body weight	2	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0001507	HP:0004322	Short stature	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001507	HP:0004325	Decreased body weight	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001507	HP:0000823	Delayed puberty	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0004322	Short stature	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0004324	Increased body weight	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0004325	Decreased body weight	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0000823	Delayed puberty	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004324	Increased body weight	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004325	Decreased body weight	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		127
HP:0001507	HP:0004324	Increased body weight	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0001507	HP:0004324	Increased body weight	2	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0001507	HP:0004325	Decreased body weight	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0001507	HP:0004325	Decreased body weight	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0001507	HP:0004325	Decreased body weight	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0001507	HP:0004322	Short stature	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004324	Increased body weight	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.		1
HP:0001507	HP:0004322	Short stature	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0004324	Increased body weight	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0004322	Short stature	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.		80
HP:0001507	HP:0004325	Decreased body weight	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0001507	HP:0004325	Decreased body weight	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0001507	HP:0004325	Decreased body weight	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001507	HP:0004325	Decreased body weight	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001507	HP:0004325	Decreased body weight	2	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0001507	HP:0000823	Delayed puberty	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0001507	HP:0004322	Short stature	2	MMP13 CL E G H	4322	7159	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent		52
HP:0001507	HP:0004322	Short stature	2	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0004322	Short stature	2	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0001507	HP:0004322	Short stature	2	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0004322	Short stature	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0004322	Short stature	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0001507	HP:0100559	Lower limb asymmetry	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004324	Increased body weight	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004322	Short stature	2	MMP9 CL E G H	4318	7176	ORPHA:1040	Metaphyseal anadysplasia	HP:0040281 - Very frequent		31
HP:0001507	HP:0004325	Decreased body weight	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001507	HP:0004325	Decreased body weight	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001507	HP:0100559	Lower limb asymmetry	2	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional		17
HP:0001507	HP:0004324	Increased body weight	2	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0001507	HP:0004324	Increased body weight	2	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0001507	HP:0004322	Short stature	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0001507	HP:0004325	Decreased body weight	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0001507	HP:0004325	Decreased body weight	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0001507	HP:0004325	Decreased body weight	2	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0001507	HP:0004322	Short stature	2	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		97
HP:0001507	HP:0004325	Decreased body weight	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0001507	HP:0004325	Decreased body weight	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0001507	HP:0004325	Decreased body weight	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001507	HP:0004322	Short stature	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0001507	HP:0004325	Decreased body weight	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0001507	HP:0000098	Tall stature	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional		26
HP:0001507	HP:0004325	Decreased body weight	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0001507	HP:0004324	Increased body weight	2	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18			1
HP:0001507	HP:0004322	Short stature	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001507	HP:0004322	Short stature	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040284 - Very rare		532
HP:0001507	HP:0004325	Decreased body weight	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0001507	HP:0004325	Decreased body weight	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001507	HP:0004325	Decreased body weight	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001507	HP:0004325	Decreased body weight	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001507	HP:0004325	Decreased body weight	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0001507	HP:0000823	Delayed puberty	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		25
HP:0001507	HP:0004322	Short stature	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		25
HP:0001507	HP:0000823	Delayed puberty	2	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7	.		25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001507	HP:0004322	Short stature	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001507	HP:0004325	Decreased body weight	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001507	HP:0004325	Decreased body weight	2	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0001507	HP:0004325	Decreased body weight	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0004325	Decreased body weight	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0001507	HP:0004325	Decreased body weight	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0001507	HP:0000823	Delayed puberty	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.		3
HP:0001507	HP:0004322	Short stature	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.		3
HP:0001507	HP:0004325	Decreased body weight	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0001507	HP:0004325	Decreased body weight	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0001507	HP:0004322	Short stature	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001507	HP:0004325	Decreased body weight	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001507	HP:0004322	Short stature	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0001507	HP:0004324	Increased body weight	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001507	HP:0004325	Decreased body weight	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001507	HP:0004325	Decreased body weight	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040282 - Frequent		183
HP:0001507	HP:0004322	Short stature	2	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0001507	HP:0000098	Tall stature	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001507	HP:0004324	Increased body weight	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0001507	HP:0004325	Decreased body weight	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0001507	HP:0004324	Increased body weight	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0001507	HP:0004322	Short stature	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0004324	Increased body weight	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0004325	Decreased body weight	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0001507	HP:0004325	Decreased body weight	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001507	HP:0004325	Decreased body weight	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0001507	HP:0004325	Decreased body weight	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0001507	HP:0004325	Decreased body weight	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0001507	HP:0008897	Postnatal growth retardation	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0001507	HP:0004324	Increased body weight	2	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1			81
HP:0001507	HP:0004325	Decreased body weight	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001507	HP:0004322	Short stature	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001507	HP:0008897	Postnatal growth retardation	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001507	HP:0004322	Short stature	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001507	HP:0004325	Decreased body weight	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001507	HP:0004322	Short stature	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0004322	Short stature	2	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent		150
HP:0001507	HP:0004325	Decreased body weight	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0004322	Short stature	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040284 - Very rare		35
HP:0001507	HP:0004324	Increased body weight	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001507	HP:0000098	Tall stature	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		418
HP:0001507	HP:0004325	Decreased body weight	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001507	HP:0008897	Postnatal growth retardation	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0001507	HP:0004322	Short stature	2	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.		166
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0001507	HP:0004322	Short stature	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0001507	HP:0004325	Decreased body weight	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0001507	HP:0004322	Short stature	2	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0001507	HP:0004322	Short stature	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0001507	HP:0004325	Decreased body weight	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001507	HP:0004322	Short stature	2	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		166
HP:0001507	HP:0004322	Short stature	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0001507	HP:0004325	Decreased body weight	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001507	HP:0004325	Decreased body weight	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001507	HP:0004322	Short stature	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001507	HP:0004322	Short stature	2	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0001507	HP:0004322	Short stature	2	MYH8 CL E G H	4626	7578	ORPHA:3377	Trismus-pseudocamptodactyly syndrome	HP:0040281 - Very frequent		93
HP:0001507	HP:0004322	Short stature	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001507	HP:0004325	Decreased body weight	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001507	HP:0004325	Decreased body weight	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001507	HP:0000098	Tall stature	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		326
HP:0001507	HP:0004322	Short stature	2	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004325	Decreased body weight	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001507	HP:0004325	Decreased body weight	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001507	HP:0004322	Short stature	2	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0001507	HP:0004322	Short stature	2	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0001507	HP:0004325	Decreased body weight	2	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001507	HP:0001511	Intrauterine growth retardation	2	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0001507	HP:0000098	Tall stature	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001507	HP:0004325	Decreased body weight	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001507	HP:0008897	Postnatal growth retardation	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0001507	HP:0004322	Short stature	2	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0001507	HP:0004322	Short stature	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0001507	HP:0004322	Short stature	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001507	HP:0004322	Short stature	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0001507	HP:0008897	Postnatal growth retardation	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0001507	HP:0008897	Postnatal growth retardation	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0001507	HP:0004325	Decreased body weight	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0001507	HP:0004325	Decreased body weight	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001507	HP:0004325	Decreased body weight	2	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0001507	HP:0004325	Decreased body weight	2	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0001507	HP:0004325	Decreased body weight	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0001507	HP:0004325	Decreased body weight	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0001507	HP:0004325	Decreased body weight	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0001507	HP:0004325	Decreased body weight	2	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0001507	HP:0004322	Short stature	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0001507	HP:0004325	Decreased body weight	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001507	HP:0008897	Postnatal growth retardation	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0001507	HP:0004322	Short stature	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0001507	HP:0004325	Decreased body weight	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0001507	HP:0004322	Short stature	2	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		48
HP:0001507	HP:0004322	Short stature	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.		1
HP:0001507	HP:0004325	Decreased body weight	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.		1
HP:0001507	HP:0004322	Short stature	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0001507	HP:0008897	Postnatal growth retardation	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0001507	HP:0004322	Short stature	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0001507	HP:0004322	Short stature	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0001507	HP:0004325	Decreased body weight	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001507	HP:0004322	Short stature	2	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0001507	HP:0004322	Short stature	2	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004322	Short stature	2	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive	.		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0001507	HP:0004322	Short stature	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0001507	HP:0004325	Decreased body weight	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0001507	HP:0004322	Short stature	2	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001507	HP:0004322	Short stature	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0001507	HP:0004324	Increased body weight	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001507	HP:0004325	Decreased body weight	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004322	Short stature	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001507	HP:0004325	Decreased body weight	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004325	Decreased body weight	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0004325	Decreased body weight	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004322	Short stature	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001507	HP:0004325	Decreased body weight	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004322	Short stature	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004322	Short stature	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001507	HP:0004325	Decreased body weight	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0001507	HP:0008897	Postnatal growth retardation	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0001507	HP:0004322	Short stature	2	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	HP:0040283 - Occasional		96
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		96
HP:0001507	HP:0004322	Short stature	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0001507	HP:0004322	Short stature	2	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001507	HP:0000823	Delayed puberty	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001507	HP:0004325	Decreased body weight	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001507	HP:0000823	Delayed puberty	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001507	HP:0004325	Decreased body weight	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001507	HP:0000823	Delayed puberty	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001507	HP:0004325	Decreased body weight	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001507	HP:0000823	Delayed puberty	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0001507	HP:0000823	Delayed puberty	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0001507	HP:0004325	Decreased body weight	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0001507	HP:0004325	Decreased body weight	2	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0001507	HP:0004322	Short stature	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0001507	HP:0004324	Increased body weight	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.		91
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001507	HP:0004322	Short stature	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001507	HP:0004325	Decreased body weight	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0001507	HP:0004322	Short stature	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001507	HP:0004322	Short stature	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.		3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.		9
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0001507	HP:0004325	Decreased body weight	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001507	HP:0004325	Decreased body weight	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0001507	HP:0004325	Decreased body weight	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001507	HP:0004325	Decreased body weight	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001507	HP:0004325	Decreased body weight	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001507	HP:0004325	Decreased body weight	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001507	HP:0004325	Decreased body weight	2	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0001507	HP:0000098	Tall stature	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001507	HP:0004325	Decreased body weight	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001507	HP:0000098	Tall stature	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001507	HP:0004325	Decreased body weight	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001507	HP:0000098	Tall stature	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001507	HP:0004325	Decreased body weight	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001507	HP:0004322	Short stature	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004325	Decreased body weight	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001507	HP:0004322	Short stature	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent		101
HP:0001507	HP:0004324	Increased body weight	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0001507	HP:0000098	Tall stature	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001507	HP:0004322	Short stature	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001507	HP:0004322	Short stature	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0001507	HP:0004322	Short stature	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			32
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0001507	HP:0004324	Increased body weight	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0001507	HP:0004325	Decreased body weight	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001507	HP:0004325	Decreased body weight	2	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0001507	HP:0004325	Decreased body weight	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001507	HP:0008897	Postnatal growth retardation	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001507	HP:0000823	Delayed puberty	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0001507	HP:0004322	Short stature	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0001507	HP:0004322	Short stature	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent		1952
HP:0001507	HP:0004325	Decreased body weight	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0001507	HP:0000098	Tall stature	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001507	HP:0004322	Short stature	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0001507	HP:0000098	Tall stature	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0001507	HP:0004322	Short stature	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0001507	HP:0004322	Short stature	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001507	HP:0004322	Short stature	2	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		1952
HP:0001507	HP:0004322	Short stature	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.		1952
HP:0001507	HP:0004324	Increased body weight	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0001507	HP:0004325	Decreased body weight	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001507	HP:0004322	Short stature	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0001507	HP:0004325	Decreased body weight	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040281 - Very frequent		40
HP:0001507	HP:0000098	Tall stature	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0001507	HP:0000098	Tall stature	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0001507	HP:0004322	Short stature	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001507	HP:0004325	Decreased body weight	2	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0001507	HP:0004325	Decreased body weight	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0001507	HP:0000098	Tall stature	2	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0001507	HP:0004325	Decreased body weight	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0001507	HP:0004325	Decreased body weight	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0001507	HP:0004325	Decreased body weight	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0001507	HP:0004325	Decreased body weight	2	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0001507	HP:0004325	Decreased body weight	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0001507	HP:0004325	Decreased body weight	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0001507	HP:0004325	Decreased body weight	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0001507	HP:0004324	Increased body weight	2	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0001507	HP:0004325	Decreased body weight	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0001507	HP:0004322	Short stature	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0001507	HP:0004322	Short stature	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0001507	HP:0004324	Increased body weight	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0001507	HP:0008897	Postnatal growth retardation	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0001507	HP:0004322	Short stature	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0001507	HP:0004322	Short stature	2	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040283 - Occasional		60
HP:0001507	HP:0004325	Decreased body weight	2	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			60
HP:0001507	HP:0004322	Short stature	2	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		60
HP:0001507	HP:0000823	Delayed puberty	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0001507	HP:0004322	Short stature	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0001507	HP:0004324	Increased body weight	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0004325	Decreased body weight	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0008897	Postnatal growth retardation	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0001507	HP:0004322	Short stature	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0001507	HP:0000098	Tall stature	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0004324	Increased body weight	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0004322	Short stature	2	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		51
HP:0001507	HP:0004322	Short stature	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0001507	HP:0004325	Decreased body weight	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001507	HP:0004322	Short stature	2	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		90
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		90
HP:0001507	HP:0004322	Short stature	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		90
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent		3
HP:0001507	HP:0004322	Short stature	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0004325	Decreased body weight	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0004322	Short stature	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001507	HP:0004325	Decreased body weight	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001507	HP:0004325	Decreased body weight	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001507	HP:0000823	Delayed puberty	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0001507	HP:0004322	Short stature	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0001507	HP:0004322	Short stature	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0001507	HP:0004322	Short stature	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0001507	HP:0000098	Tall stature	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional		13
HP:0001507	HP:0004325	Decreased body weight	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0001507	HP:0004325	Decreased body weight	2	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0001507	HP:0004325	Decreased body weight	2	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease			187
HP:0001507	HP:0004325	Decreased body weight	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001507	HP:0004322	Short stature	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0004325	Decreased body weight	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5	.		45
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0031853	Isomerism	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0004322	Short stature	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0001507	HP:0004325	Decreased body weight	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0001507	HP:0004322	Short stature	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0001507	HP:0004322	Short stature	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0004325	Decreased body weight	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0001507	HP:0004322	Short stature	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0004325	Decreased body weight	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0001507	HP:0004322	Short stature	2	NOG CL E G H	9241	7866	ORPHA:1412	Tarsal-carpal coalition syndrome	HP:0040281 - Very frequent		22
HP:0001507	HP:0000098	Tall stature	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001507	HP:0000823	Delayed puberty	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0004325	Decreased body weight	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001507	HP:0000098	Tall stature	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0000823	Delayed puberty	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0004325	Decreased body weight	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0001507	HP:0004322	Short stature	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0001507	HP:0004325	Decreased body weight	2	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.		8
HP:0001507	HP:0004325	Decreased body weight	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001507	HP:0000823	Delayed puberty	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0001507	HP:0004322	Short stature	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0001507	HP:0004322	Short stature	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0001507	HP:0004325	Decreased body weight	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0001507	HP:0004325	Decreased body weight	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001507	HP:0004325	Decreased body weight	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001507	HP:0004322	Short stature	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0001507	HP:0000823	Delayed puberty	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0004322	Short stature	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0004324	Increased body weight	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0004322	Short stature	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		85
HP:0001507	HP:0004324	Increased body weight	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0001507	HP:0004322	Short stature	2	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		85
HP:0001507	HP:0004322	Short stature	2	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		157
HP:0001507	HP:0004322	Short stature	2	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		220
HP:0001507	HP:0004325	Decreased body weight	2	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0001507	HP:0004325	Decreased body weight	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0001507	HP:0004322	Short stature	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0001507	HP:0004322	Short stature	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0004322	Short stature	2	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type			53
HP:0001507	HP:0000098	Tall stature	2	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.		53
HP:0001507	HP:0004322	Short stature	2	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities			53
HP:0001507	HP:0000098	Tall stature	2	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001507	HP:0000823	Delayed puberty	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		48
HP:0001507	HP:0000823	Delayed puberty	2	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.		48
HP:0001507	HP:0004325	Decreased body weight	2	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital			48
HP:0001507	HP:0004324	Increased body weight	2	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0001507	HP:0004325	Decreased body weight	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001507	HP:0004325	Decreased body weight	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001507	HP:0004324	Increased body weight	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0001507	HP:0004322	Short stature	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare		37
HP:0001507	HP:0004324	Increased body weight	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001507	HP:0004325	Decreased body weight	2	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant			109
HP:0001507	HP:0000823	Delayed puberty	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		38
HP:0001507	HP:0004322	Short stature	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		38
HP:0001507	HP:0000823	Delayed puberty	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		38
HP:0001507	HP:0004322	Short stature	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0001507	HP:0004322	Short stature	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001507	HP:0000098	Tall stature	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0001507	HP:0001528	Hemihypertrophy	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0001507	HP:0004322	Short stature	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0004322	Short stature	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0004325	Decreased body weight	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0004324	Increased body weight	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0001507	HP:0004322	Short stature	2	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		4
HP:0001507	HP:0004325	Decreased body weight	2	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0001507	HP:0004322	Short stature	2	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040281 - Very frequent		544
HP:0001507	HP:0000098	Tall stature	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040281 - Very frequent		544
HP:0001507	HP:0000098	Tall stature	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001507	HP:0004324	Increased body weight	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001507	HP:0000098	Tall stature	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0004322	Short stature	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0004325	Decreased body weight	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0008897	Postnatal growth retardation	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0000098	Tall stature	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0004322	Short stature	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0004325	Decreased body weight	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0004325	Decreased body weight	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0008897	Postnatal growth retardation	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0000098	Tall stature	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0001507	HP:0000098	Tall stature	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0001507	HP:0004325	Decreased body weight	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0001507	HP:0004325	Decreased body weight	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0001507	HP:0004322	Short stature	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0001507	HP:0004325	Decreased body weight	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001507	HP:0004322	Short stature	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0001507	HP:0004322	Short stature	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001507	HP:0004325	Decreased body weight	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0001507	HP:0000823	Delayed puberty	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0001507	HP:0004325	Decreased body weight	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0004325	Decreased body weight	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		84
HP:0001507	HP:0004322	Short stature	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		84
HP:0001507	HP:0008897	Postnatal growth retardation	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent		84
HP:0001507	HP:0004322	Short stature	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0001507	HP:0004325	Decreased body weight	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0001507	HP:0008897	Postnatal growth retardation	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0001507	HP:0004325	Decreased body weight	2	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0001507	HP:0004322	Short stature	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0001507	HP:0004325	Decreased body weight	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001507	HP:0004324	Increased body weight	2	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0001507	HP:0004325	Decreased body weight	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001507	HP:0004325	Decreased body weight	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001507	HP:0004325	Decreased body weight	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001507	HP:0000823	Delayed puberty	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		5
HP:0001507	HP:0004322	Short stature	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004322	Short stature	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004322	Short stature	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	HP:0040284 - Very rare		5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001507	HP:0004325	Decreased body weight	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001507	HP:0004325	Decreased body weight	2	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0001507	HP:0004325	Decreased body weight	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0001507	HP:0004325	Decreased body weight	2	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0001507	HP:0004322	Short stature	2	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	HP:0040284 - Very rare
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0001507	HP:0004325	Decreased body weight	2	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0001507	HP:0004322	Short stature	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001507	HP:0004322	Short stature	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001507	HP:0004322	Short stature	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0004322	Short stature	2	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0004325	Decreased body weight	2	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0001511	Intrauterine growth retardation	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		143
HP:0001507	HP:0004322	Short stature	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent		143
HP:0001507	HP:0004324	Increased body weight	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0001507	HP:0000823	Delayed puberty	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0001507	HP:0004322	Short stature	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0001507	HP:0004324	Increased body weight	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001507	HP:0004325	Decreased body weight	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001507	HP:0000823	Delayed puberty	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0001507	HP:0004322	Short stature	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0001507	HP:0004324	Increased body weight	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001507	HP:0004325	Decreased body weight	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001507	HP:0000823	Delayed puberty	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0001507	HP:0004322	Short stature	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0001507	HP:0004324	Increased body weight	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001507	HP:0004325	Decreased body weight	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001507	HP:0004325	Decreased body weight	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001507	HP:0004322	Short stature	2	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0001507	HP:0004322	Short stature	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0001507	HP:0004325	Decreased body weight	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0001507	HP:0000823	Delayed puberty	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0001507	HP:0004322	Short stature	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0001507	HP:0004325	Decreased body weight	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0001507	HP:0004324	Increased body weight	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001507	HP:0004324	Increased body weight	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001507	HP:0004322	Short stature	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0001507	HP:0004322	Short stature	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0001507	HP:0004325	Decreased body weight	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0001507	HP:0004324	Increased body weight	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0001507	HP:0004324	Increased body weight	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001507	HP:0004322	Short stature	2	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0001507	HP:0004325	Decreased body weight	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0001507	HP:0004322	Short stature	2	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		19
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0001507	HP:0004322	Short stature	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0001507	HP:0004325	Decreased body weight	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0001507	HP:0004322	Short stature	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001507	HP:0004325	Decreased body weight	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0004322	Short stature	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0001507	HP:0004325	Decreased body weight	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0001507	HP:0004322	Short stature	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0001507	HP:0004325	Decreased body weight	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0001507	HP:0004322	Short stature	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0001507	HP:0004325	Decreased body weight	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0001507	HP:0004322	Short stature	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0001507	HP:0004325	Decreased body weight	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001507	HP:0004322	Short stature	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001507	HP:0004325	Decreased body weight	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001507	HP:0004322	Short stature	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0001507	HP:0004325	Decreased body weight	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0001507	HP:0001511	Intrauterine growth retardation	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0004322	Short stature	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0004325	Decreased body weight	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0001511	Intrauterine growth retardation	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0001507	HP:0004322	Short stature	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001507	HP:0004322	Short stature	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001507	HP:0004325	Decreased body weight	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001507	HP:0004325	Decreased body weight	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0001507	HP:0000823	Delayed puberty	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		41
HP:0001507	HP:0004322	Short stature	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0001507	HP:0004322	Short stature	2	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	HP:0040283 - Occasional		41
HP:0001507	HP:0004322	Short stature	2	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6	.		41
HP:0001507	HP:0004322	Short stature	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		41
HP:0001507	HP:0004324	Increased body weight	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0001507	HP:0004324	Increased body weight	2	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0001507	HP:0004322	Short stature	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0001507	HP:0004325	Decreased body weight	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0001507	HP:0004322	Short stature	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	HP:0040284 - Very rare
HP:0001507	HP:0004324	Increased body weight	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001507	HP:0004325	Decreased body weight	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001507	HP:0000098	Tall stature	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional		231
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent		641
HP:0001507	HP:0004322	Short stature	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001507	HP:0004322	Short stature	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0001507	HP:0004325	Decreased body weight	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001507	HP:0004322	Short stature	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1349
HP:0001507	HP:0004325	Decreased body weight	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001507	HP:0008897	Postnatal growth retardation	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.		1349
HP:0001507	HP:0004325	Decreased body weight	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0001507	HP:0004322	Short stature	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0001507	HP:0004325	Decreased body weight	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0001507	HP:0004325	Decreased body weight	2	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0001507	HP:0004322	Short stature	2	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0001507	HP:0004322	Short stature	2	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0001507	HP:0004322	Short stature	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.		26
HP:0001507	HP:0004325	Decreased body weight	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0001507	HP:0004322	Short stature	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0001507	HP:0004325	Decreased body weight	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0001507	HP:0004322	Short stature	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0001507	HP:0004325	Decreased body weight	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001507	HP:0004322	Short stature	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0001507	HP:0004322	Short stature	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0004325	Decreased body weight	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent			55
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0001507	HP:0004324	Increased body weight	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0001507	HP:0004322	Short stature	2	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0001507	HP:0004324	Increased body weight	2	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0001507	HP:0004324	Increased body weight	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0001507	HP:0004322	Short stature	2	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		63
HP:0001507	HP:0004322	Short stature	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		63
HP:0001507	HP:0004322	Short stature	2	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		63
HP:0001507	HP:0004322	Short stature	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0004325	Decreased body weight	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0004324	Increased body weight	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0004322	Short stature	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0001507	HP:0004325	Decreased body weight	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001507	HP:0004322	Short stature	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0001507	HP:0004325	Decreased body weight	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001507	HP:0004325	Decreased body weight	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001507	HP:0004322	Short stature	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0001507	HP:0004325	Decreased body weight	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0001507	HP:0004322	Short stature	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0001507	HP:0004322	Short stature	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0001507	HP:0004322	Short stature	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001507	HP:0004324	Increased body weight	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0001507	HP:0004322	Short stature	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001507	HP:0004324	Increased body weight	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001507	HP:0008897	Postnatal growth retardation	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0001507	HP:0004322	Short stature	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0001507	HP:0004325	Decreased body weight	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0001507	HP:0000823	Delayed puberty	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional		65
HP:0001507	HP:0004324	Increased body weight	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0001507	HP:0004325	Decreased body weight	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0001507	HP:0004324	Increased body weight	2	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0001507	HP:0004322	Short stature	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0001507	HP:0008897	Postnatal growth retardation	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0001507	HP:0004322	Short stature	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0001507	HP:0000098	Tall stature	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001507	HP:0004324	Increased body weight	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001507	HP:0004324	Increased body weight	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0001507	HP:0004324	Increased body weight	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001507	HP:0004322	Short stature	2	PDE3A CL E G H	5139	8778	ORPHA:1276	Brachydactyly-arterial hypertension syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0004322	Short stature	2	PDE3A CL E G H	5139	8778	OMIM:112410	Hypertension and brachydactyly syndrome	.		9
HP:0001507	HP:0004322	Short stature	2	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		113
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040283 - Occasional		113
HP:0001507	HP:0004322	Short stature	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0001507	HP:0004324	Increased body weight	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0001507	HP:0004322	Short stature	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0001507	HP:0004324	Increased body weight	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent		113
HP:0001507	HP:0004324	Increased body weight	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0001507	HP:0008897	Postnatal growth retardation	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent		113
HP:0001507	HP:0004324	Increased body weight	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0001507	HP:0004324	Increased body weight	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0001507	HP:0004322	Short stature	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0001507	HP:0004324	Increased body weight	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0001507	HP:0004324	Increased body weight	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		9
HP:0001507	HP:0004324	Increased body weight	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		28
HP:0001507	HP:0000098	Tall stature	2	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0001507	HP:0004325	Decreased body weight	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		88
HP:0001507	HP:0004325	Decreased body weight	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001507	HP:0004325	Decreased body weight	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional		37
HP:0001507	HP:0004325	Decreased body weight	2	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040282 - Frequent		37
HP:0001507	HP:0004325	Decreased body weight	2	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0001507	HP:0100559	Lower limb asymmetry	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004324	Increased body weight	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004324	Increased body weight	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent			30
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0001507	HP:0004325	Decreased body weight	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0001507	HP:0004324	Increased body weight	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.		30
HP:0001507	HP:0004325	Decreased body weight	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001507	HP:0004325	Decreased body weight	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0001507	HP:0004325	Decreased body weight	2	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0001507	HP:0004325	Decreased body weight	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001507	HP:0004325	Decreased body weight	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001507	HP:0004322	Short stature	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040282 - Frequent		169
HP:0001507	HP:0004322	Short stature	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0001507	HP:0004325	Decreased body weight	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001507	HP:0004322	Short stature	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0001507	HP:0004325	Decreased body weight	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001507	HP:0004322	Short stature	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0001507	HP:0004325	Decreased body weight	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001507	HP:0004322	Short stature	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0001507	HP:0004325	Decreased body weight	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001507	HP:0004322	Short stature	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0001507	HP:0000823	Delayed puberty	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0001507	HP:0004322	Short stature	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0001507	HP:0004325	Decreased body weight	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001507	HP:0004322	Short stature	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001507	HP:0004322	Short stature	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0001507	HP:0004322	Short stature	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001507	HP:0004322	Short stature	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0001507	HP:0004325	Decreased body weight	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001507	HP:0004322	Short stature	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0001507	HP:0004325	Decreased body weight	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0001507	HP:0004322	Short stature	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0004325	Decreased body weight	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001507	HP:0004322	Short stature	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0001507	HP:0004325	Decreased body weight	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001507	HP:0004322	Short stature	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0001507	HP:0004325	Decreased body weight	2	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0001507	HP:0004322	Short stature	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0001507	HP:0004325	Decreased body weight	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001507	HP:0004322	Short stature	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0001507	HP:0004325	Decreased body weight	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001507	HP:0004322	Short stature	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0001507	HP:0004322	Short stature	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0001507	HP:0004325	Decreased body weight	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001507	HP:0004322	Short stature	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0001507	HP:0004325	Decreased body weight	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001507	HP:0004322	Short stature	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0001507	HP:0004325	Decreased body weight	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0001507	HP:0004322	Short stature	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0001507	HP:0004325	Decreased body weight	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001507	HP:0004322	Short stature	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0001507	HP:0004325	Decreased body weight	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001507	HP:0004322	Short stature	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0001507	HP:0004322	Short stature	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001507	HP:0004325	Decreased body weight	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001507	HP:0004322	Short stature	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0001507	HP:0004325	Decreased body weight	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001507	HP:0004322	Short stature	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0001507	HP:0004325	Decreased body weight	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001507	HP:0004322	Short stature	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0001507	HP:0004325	Decreased body weight	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0001507	HP:0004322	Short stature	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0001507	HP:0004325	Decreased body weight	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001507	HP:0004322	Short stature	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0001507	HP:0004325	Decreased body weight	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001507	HP:0004322	Short stature	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0001507	HP:0004322	Short stature	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0001507	HP:0004325	Decreased body weight	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001507	HP:0004322	Short stature	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0001507	HP:0004325	Decreased body weight	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001507	HP:0004322	Short stature	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0001507	HP:0004322	Short stature	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0001507	HP:0004325	Decreased body weight	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001507	HP:0004322	Short stature	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0001507	HP:0004325	Decreased body weight	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001507	HP:0004322	Short stature	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0001507	HP:0004325	Decreased body weight	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0001507	HP:0004322	Short stature	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0001507	HP:0004322	Short stature	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0001507	HP:0004325	Decreased body weight	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001507	HP:0004322	Short stature	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040282 - Frequent		98
HP:0001507	HP:0004322	Short stature	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0001507	HP:0004325	Decreased body weight	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001507	HP:0004322	Short stature	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0001507	HP:0004322	Short stature	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0001507	HP:0004325	Decreased body weight	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001507	HP:0004322	Short stature	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0004325	Decreased body weight	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0004322	Short stature	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001507	HP:0004325	Decreased body weight	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001507	HP:0000823	Delayed puberty	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	.		58
HP:0001507	HP:0004322	Short stature	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001507	HP:0004325	Decreased body weight	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001507	HP:0004322	Short stature	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040284 - Very rare		15
HP:0001507	HP:0004325	Decreased body weight	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0001507	HP:0004322	Short stature	2	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		16
HP:0001507	HP:0004322	Short stature	2	PHC1 CL E G H	1911	3182	OMIM:615414	Microcephaly 11, primary, autosomal recessive	.		16
HP:0001507	HP:0004322	Short stature	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0001507	HP:0004322	Short stature	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0001507	HP:0004324	Increased body weight	2	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0001507	HP:0000823	Delayed puberty	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0000823	Delayed puberty	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0001507	HP:0004322	Short stature	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0001507	HP:0004322	Short stature	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional		29
HP:0001507	HP:0004324	Increased body weight	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0004324	Increased body weight	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0001507	HP:0004322	Short stature	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0001507	HP:0004325	Decreased body weight	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001507	HP:0004324	Increased body weight	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0001507	HP:0004324	Increased body weight	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0001507	HP:0000823	Delayed puberty	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0001507	HP:0004322	Short stature	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0001507	HP:0004324	Increased body weight	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0001507	HP:0004325	Decreased body weight	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001507	HP:0004322	Short stature	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001507	HP:0004324	Increased body weight	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001507	HP:0008897	Postnatal growth retardation	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001507	HP:0004322	Short stature	2	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.		101
HP:0001507	HP:0000823	Delayed puberty	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0001507	HP:0004322	Short stature	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0001507	HP:0004324	Increased body weight	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0001507	HP:0004325	Decreased body weight	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001507	HP:0008897	Postnatal growth retardation	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0001507	HP:0004325	Decreased body weight	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		11
HP:0001507	HP:0004322	Short stature	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001507	HP:0004322	Short stature	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0001507	HP:0004322	Short stature	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0001507	HP:0004322	Short stature	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001507	HP:0004322	Short stature	2	PIEZO2 CL E G H	63895	26270	ORPHA:376	Gordon syndrome	HP:0040283 - Occasional		77
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent		77
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0001507	HP:0004322	Short stature	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001507	HP:0004325	Decreased body weight	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001507	HP:0008897	Postnatal growth retardation	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0001507	HP:0000098	Tall stature	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001507	HP:0004324	Increased body weight	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001507	HP:0004322	Short stature	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0004324	Increased body weight	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0004325	Decreased body weight	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0001507	HP:0000098	Tall stature	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001507	HP:0000098	Tall stature	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent		36
HP:0001507	HP:0004324	Increased body weight	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001507	HP:0004324	Increased body weight	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001507	HP:0004325	Decreased body weight	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001507	HP:0004325	Decreased body weight	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001507	HP:0004324	Increased body weight	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001507	HP:0004324	Increased body weight	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0001507	HP:0004322	Short stature	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0001507	HP:0004325	Decreased body weight	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0001507	HP:0001528	Hemihypertrophy	2	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	HP:0040284 - Very rare		162
HP:0001507	HP:0000098	Tall stature	2	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0001507	HP:0001528	Hemihypertrophy	2	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040280 - Obligate		162
HP:0001507	HP:0100559	Lower limb asymmetry	2	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040283 - Occasional		162
HP:0001507	HP:0004322	Short stature	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0001507	HP:0004325	Decreased body weight	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0001507	HP:0000098	Tall stature	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0001507	HP:0004325	Decreased body weight	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0001507	HP:0000098	Tall stature	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0001507	HP:0004325	Decreased body weight	2	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0001507	HP:0004324	Increased body weight	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0001507	HP:0004325	Decreased body weight	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0001507	HP:0004322	Short stature	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.		43
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0001507	HP:0004322	Short stature	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0001507	HP:0004322	Short stature	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0001507	HP:0004325	Decreased body weight	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0001507	HP:0004325	Decreased body weight	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0001507	HP:0000098	Tall stature	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001507	HP:0004322	Short stature	2	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0001507	HP:0004322	Short stature	2	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF			8
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001507	HP:0004322	Short stature	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0004324	Increased body weight	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0004325	Decreased body weight	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	HP:0040283 - Occasional		51
HP:0001507	HP:0004322	Short stature	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional		107
HP:0001507	HP:0004325	Decreased body weight	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome			107
HP:0001507	HP:0004325	Decreased body weight	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0001507	HP:0004325	Decreased body weight	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0001507	HP:0004322	Short stature	2	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0004325	Decreased body weight	2	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001507	HP:0008897	Postnatal growth retardation	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001507	HP:0008897	Postnatal growth retardation	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001507	HP:0004322	Short stature	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0001507	HP:0004322	Short stature	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0001507	HP:0004322	Short stature	2	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0001507	HP:0004322	Short stature	2	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0004322	Short stature	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0004325	Decreased body weight	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0001507	HP:0000098	Tall stature	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001507	HP:0000098	Tall stature	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001507	HP:0004322	Short stature	2	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		45
HP:0001507	HP:0004322	Short stature	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0001507	HP:0008897	Postnatal growth retardation	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0001507	HP:0004322	Short stature	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001507	HP:0004325	Decreased body weight	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001507	HP:0004322	Short stature	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040283 - Occasional		60
HP:0001507	HP:0004325	Decreased body weight	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0001507	HP:0004325	Decreased body weight	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001507	HP:0004325	Decreased body weight	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0001507	HP:0004322	Short stature	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional		7
HP:0001507	HP:0004322	Short stature	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	HP:0040283 - Occasional		7
HP:0001507	HP:0004325	Decreased body weight	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0001507	HP:0004325	Decreased body weight	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0001507	HP:0004325	Decreased body weight	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0001507	HP:0004324	Increased body weight	2	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0001507	HP:0004325	Decreased body weight	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001507	HP:0004325	Decreased body weight	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0001507	HP:0004322	Short stature	2	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040283 - Occasional		47
HP:0001507	HP:0004325	Decreased body weight	2	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			47
HP:0001507	HP:0004322	Short stature	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional		65
HP:0001507	HP:0004322	Short stature	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0001507	HP:0004322	Short stature	2	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		103
HP:0001507	HP:0004322	Short stature	2	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.		103
HP:0001507	HP:0004322	Short stature	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040282 - Frequent		103
HP:0001507	HP:0004324	Increased body weight	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0001507	HP:0000823	Delayed puberty	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0001507	HP:0004322	Short stature	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001507	HP:0004325	Decreased body weight	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001507	HP:0008897	Postnatal growth retardation	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0001507	HP:0004325	Decreased body weight	2	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001507	HP:0004325	Decreased body weight	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0001507	HP:0004325	Decreased body weight	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0001507	HP:0004322	Short stature	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0004325	Decreased body weight	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0000823	Delayed puberty	2	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B	.		31
HP:0001507	HP:0001511	Intrauterine growth retardation	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0004322	Short stature	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0001507	HP:0004322	Short stature	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0001507	HP:0004324	Increased body weight	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0004324	Increased body weight	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0001507	HP:0004325	Decreased body weight	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0004325	Decreased body weight	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001507	HP:0004322	Short stature	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0001507	HP:0004322	Short stature	2	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.		1129
HP:0001507	HP:0001511	Intrauterine growth retardation	2	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent		1129
HP:0001507	HP:0001511	Intrauterine growth retardation	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0001507	HP:0004322	Short stature	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0001507	HP:0004325	Decreased body weight	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0001507	HP:0004325	Decreased body weight	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001507	HP:0000098	Tall stature	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0001507	HP:0004325	Decreased body weight	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0001507	HP:0004325	Decreased body weight	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0001507	HP:0000098	Tall stature	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0001507	HP:0004325	Decreased body weight	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0001507	HP:0004325	Decreased body weight	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0001507	HP:0004325	Decreased body weight	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001507	HP:0004325	Decreased body weight	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001507	HP:0004325	Decreased body weight	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0001507	HP:0004322	Short stature	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	HP:0040283 - Occasional		8
HP:0001507	HP:0004325	Decreased body weight	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	HP:0040283 - Occasional		8
HP:0001507	HP:0004322	Short stature	2	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0004325	Decreased body weight	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0001507	HP:0004325	Decreased body weight	2	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0001507	HP:0004325	Decreased body weight	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0001507	HP:0004325	Decreased body weight	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0001507	HP:0004325	Decreased body weight	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001507	HP:0000823	Delayed puberty	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040281 - Very frequent		138
HP:0001507	HP:0004322	Short stature	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0001507	HP:0000823	Delayed puberty	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0001507	HP:0004322	Short stature	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0001507	HP:0000098	Tall stature	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0001511	Intrauterine growth retardation	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0001507	HP:0001511	Intrauterine growth retardation	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0001507	HP:0004322	Short stature	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0001507	HP:0004322	Short stature	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0001507	HP:0004325	Decreased body weight	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0004325	Decreased body weight	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0000823	Delayed puberty	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040281 - Very frequent		67
HP:0001507	HP:0004322	Short stature	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0001507	HP:0004322	Short stature	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0001507	HP:0000823	Delayed puberty	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001507	HP:0004322	Short stature	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001507	HP:0000823	Delayed puberty	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001507	HP:0004322	Short stature	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001507	HP:0004324	Increased body weight	2	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0001507	HP:0000823	Delayed puberty	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional		27
HP:0001507	HP:0004324	Increased body weight	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0001507	HP:0004325	Decreased body weight	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0001507	HP:0004324	Increased body weight	2	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0001507	HP:0004324	Increased body weight	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0001507	HP:0004325	Decreased body weight	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0001507	HP:0004322	Short stature	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.		6
HP:0001507	HP:0004325	Decreased body weight	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001507	HP:0000098	Tall stature	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001507	HP:0000823	Delayed puberty	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0001507	HP:0100559	Lower limb asymmetry	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0001507	HP:0100560	Upper limb asymmetry	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0001507	HP:0004322	Short stature	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0001507	HP:0000823	Delayed puberty	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		36
HP:0001507	HP:0004322	Short stature	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0001507	HP:0004322	Short stature	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0001507	HP:0004324	Increased body weight	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0001507	HP:0004322	Short stature	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.		36
HP:0001507	HP:0004325	Decreased body weight	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001507	HP:0008897	Postnatal growth retardation	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001507	HP:0004324	Increased body weight	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0001507	HP:0008897	Postnatal growth retardation	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0001507	HP:0004325	Decreased body weight	2	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0000098	Tall stature	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001507	HP:0004325	Decreased body weight	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent			42
HP:0001507	HP:0004324	Increased body weight	2	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0001507	HP:0004322	Short stature	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0004325	Decreased body weight	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0004322	Short stature	2	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0001507	HP:0004325	Decreased body weight	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001507	HP:0004322	Short stature	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0001507	HP:0004322	Short stature	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		9
HP:0001507	HP:0004322	Short stature	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001507	HP:0004325	Decreased body weight	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001507	HP:0000823	Delayed puberty	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	.		2
HP:0001507	HP:0004322	Short stature	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0004325	Decreased body weight	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0000823	Delayed puberty	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0008897	Postnatal growth retardation	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0001507	HP:0004322	Short stature	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0001507	HP:0004325	Decreased body weight	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0001507	HP:0004322	Short stature	2	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0001507	HP:0004325	Decreased body weight	2	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0001507	HP:0004322	Short stature	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0001507	HP:0004322	Short stature	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001507	HP:0004325	Decreased body weight	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001507	HP:0004322	Short stature	2	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0001507	HP:0004322	Short stature	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001507	HP:0004322	Short stature	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent		28
HP:0001507	HP:0004322	Short stature	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0001507	HP:0004325	Decreased body weight	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0001507	HP:0004322	Short stature	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent		28
HP:0001507	HP:0004325	Decreased body weight	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040281 - Very frequent		28
HP:0001507	HP:0004324	Increased body weight	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001507	HP:0000823	Delayed puberty	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001507	HP:0100559	Lower limb asymmetry	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001507	HP:0004322	Short stature	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001507	HP:0004324	Increased body weight	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001507	HP:0004325	Decreased body weight	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001507	HP:0004325	Decreased body weight	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001507	HP:0004325	Decreased body weight	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0001507	HP:0004325	Decreased body weight	2	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0001507	HP:0004322	Short stature	2	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.		7
HP:0001507	HP:0004325	Decreased body weight	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001507	HP:0008897	Postnatal growth retardation	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0004324	Increased body weight	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0001507	HP:0004324	Increased body weight	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0004322	Short stature	2	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		134
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0004322	Short stature	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0004325	Decreased body weight	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0008897	Postnatal growth retardation	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0001507	HP:0004322	Short stature	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0001507	HP:0004324	Increased body weight	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0001507	HP:0004325	Decreased body weight	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0001507	HP:0004324	Increased body weight	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0001507	HP:0004325	Decreased body weight	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0001507	HP:0000098	Tall stature	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001507	HP:0004324	Increased body weight	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001507	HP:0004324	Increased body weight	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0001507	HP:0004324	Increased body weight	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001507	HP:0004324	Increased body weight	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0001507	HP:0004325	Decreased body weight	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0100559	Lower limb asymmetry	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004324	Increased body weight	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0001507	HP:0000098	Tall stature	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		41
HP:0001507	HP:0004322	Short stature	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001507	HP:0004322	Short stature	2	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001507	HP:0004322	Short stature	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0001507	HP:0004324	Increased body weight	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0001507	HP:0004324	Increased body weight	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0001507	HP:0004325	Decreased body weight	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0001507	HP:0004325	Decreased body weight	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0001507	HP:0004325	Decreased body weight	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0001507	HP:0004324	Increased body weight	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0001507	HP:0000823	Delayed puberty	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0004324	Increased body weight	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0001507	HP:0000823	Delayed puberty	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		9
HP:0001507	HP:0004325	Decreased body weight	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0001507	HP:0000823	Delayed puberty	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		34
HP:0001507	HP:0004324	Increased body weight	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0000823	Delayed puberty	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0000823	Delayed puberty	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		34
HP:0001507	HP:0004322	Short stature	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0001507	HP:0004322	Short stature	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		34
HP:0001507	HP:0004324	Increased body weight	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0001507	HP:0004324	Increased body weight	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0001507	HP:0000823	Delayed puberty	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		54
HP:0001507	HP:0004322	Short stature	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0001507	HP:0004322	Short stature	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0001507	HP:0004324	Increased body weight	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0001507	HP:0000823	Delayed puberty	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		54
HP:0001507	HP:0004322	Short stature	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		54
HP:0001507	HP:0004322	Short stature	2	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.		54
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001507	HP:0004324	Increased body weight	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001507	HP:0004324	Increased body weight	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0001507	HP:0004324	Increased body weight	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0001507	HP:0004324	Increased body weight	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0001507	HP:0004324	Increased body weight	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0001507	HP:0004324	Increased body weight	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0001507	HP:0004324	Increased body weight	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0001507	HP:0004322	Short stature	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0001507	HP:0004325	Decreased body weight	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0001507	HP:0004322	Short stature	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0001507	HP:0004325	Decreased body weight	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001507	HP:0004322	Short stature	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001507	HP:0004325	Decreased body weight	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001507	HP:0004325	Decreased body weight	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.		27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent		27
HP:0001507	HP:0004325	Decreased body weight	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001507	HP:0004325	Decreased body weight	2	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001507	HP:0004325	Decreased body weight	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001507	HP:0004322	Short stature	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001507	HP:0004325	Decreased body weight	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001507	HP:0004325	Decreased body weight	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0001507	HP:0004325	Decreased body weight	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001507	HP:0000823	Delayed puberty	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		2
HP:0001507	HP:0000823	Delayed puberty	2	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3			2
HP:0001507	HP:0100556	Hemiatrophy	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0004324	Increased body weight	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0004325	Decreased body weight	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0008897	Postnatal growth retardation	2	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040282 - Frequent		54
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.		54
HP:0001507	HP:0008897	Postnatal growth retardation	2	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.		54
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0004322	Short stature	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0004325	Decreased body weight	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0004322	Short stature	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0004325	Decreased body weight	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0001507	HP:0004322	Short stature	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0001507	HP:0004325	Decreased body weight	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0001507	HP:0004322	Short stature	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0001507	HP:0004322	Short stature	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0004325	Decreased body weight	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0001507	HP:0000098	Tall stature	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0001507	HP:0004324	Increased body weight	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0001507	HP:0004322	Short stature	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0004325	Decreased body weight	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0001507	HP:0004322	Short stature	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	HP:0003593 - Infantile onset	6
HP:0001507	HP:0004322	Short stature	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0004325	Decreased body weight	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0000098	Tall stature	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0001507	HP:0004322	Short stature	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0004325	Decreased body weight	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0001507	HP:0004322	Short stature	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0001507	HP:0004325	Decreased body weight	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0001507	HP:0004322	Short stature	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0001507	HP:0004325	Decreased body weight	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001507	HP:0004324	Increased body weight	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0001507	HP:0000098	Tall stature	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0001507	HP:0100559	Lower limb asymmetry	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0100560	Upper limb asymmetry	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0004325	Decreased body weight	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0001507	HP:0100559	Lower limb asymmetry	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0100559	Lower limb asymmetry	2	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0100560	Upper limb asymmetry	2	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0004325	Decreased body weight	2	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001507	HP:0004325	Decreased body weight	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001507	HP:0004322	Short stature	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001507	HP:0004322	Short stature	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0001507	HP:0004322	Short stature	2	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0001507	HP:0004325	Decreased body weight	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0001507	HP:0004322	Short stature	2	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0001507	HP:0100560	Upper limb asymmetry	2	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional		6
HP:0001507	HP:0004322	Short stature	2	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent		6
HP:0001507	HP:0004322	Short stature	2	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2	.		6
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0000823	Delayed puberty	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0001507	HP:0004322	Short stature	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0001507	HP:0004322	Short stature	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0001507	HP:0004322	Short stature	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001507	HP:0004325	Decreased body weight	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001507	HP:0008897	Postnatal growth retardation	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0001507	HP:0004322	Short stature	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		291
HP:0001507	HP:0004325	Decreased body weight	2	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0008897	Postnatal growth retardation	2	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001507	HP:0004325	Decreased body weight	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0008897	Postnatal growth retardation	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001507	HP:0004325	Decreased body weight	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001507	HP:0004325	Decreased body weight	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0001507	HP:0004325	Decreased body weight	2	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0008897	Postnatal growth retardation	2	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0004325	Decreased body weight	2	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0004325	Decreased body weight	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0008897	Postnatal growth retardation	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0001507	HP:0004322	Short stature	2	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040282 - Frequent		3
HP:0001507	HP:0000823	Delayed puberty	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0001507	HP:0004325	Decreased body weight	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001507	HP:0008897	Postnatal growth retardation	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001507	HP:0000823	Delayed puberty	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	HP:0040284 - Very rare		6
HP:0001507	HP:0004322	Short stature	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0001507	HP:0004325	Decreased body weight	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0001507	HP:0004325	Decreased body weight	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0001507	HP:0004322	Short stature	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040281 - Very frequent		19
HP:0001507	HP:0004325	Decreased body weight	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001507	HP:0004322	Short stature	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0001507	HP:0004322	Short stature	2	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0001507	HP:0004322	Short stature	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0001507	HP:0000823	Delayed puberty	2	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		57
HP:0001507	HP:0000823	Delayed puberty	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001507	HP:0004325	Decreased body weight	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001507	HP:0004325	Decreased body weight	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0001507	HP:0004322	Short stature	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0001507	HP:0004325	Decreased body weight	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0001507	HP:0000823	Delayed puberty	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004324	Increased body weight	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004325	Decreased body weight	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0000823	Delayed puberty	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004324	Increased body weight	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004325	Decreased body weight	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0001507	HP:0004325	Decreased body weight	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0001507	HP:0001511	Intrauterine growth retardation	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0001507	HP:0004322	Short stature	2	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0001507	HP:0004322	Short stature	2	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		11
HP:0001507	HP:0004325	Decreased body weight	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0001507	HP:0004325	Decreased body weight	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0001507	HP:0000823	Delayed puberty	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent		71
HP:0001507	HP:0004322	Short stature	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0001507	HP:0004325	Decreased body weight	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0001507	HP:0004325	Decreased body weight	2	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0001507	HP:0008897	Postnatal growth retardation	2	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI	.		71
HP:0001507	HP:0000098	Tall stature	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001507	HP:0004322	Short stature	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001507	HP:0001511	Intrauterine growth retardation	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001507	HP:0000823	Delayed puberty	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0001507	HP:0004322	Short stature	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0001507	HP:0008897	Postnatal growth retardation	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0001507	HP:0004324	Increased body weight	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0001507	HP:0004322	Short stature	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001507	HP:0004324	Increased body weight	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001507	HP:0004322	Short stature	2	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.		53
HP:0001507	HP:0004325	Decreased body weight	2	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.		53
HP:0001507	HP:0004322	Short stature	2	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0001507	HP:0004322	Short stature	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		90
HP:0001507	HP:0004322	Short stature	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0001507	HP:0004325	Decreased body weight	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0001507	HP:0000823	Delayed puberty	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0001507	HP:0004322	Short stature	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0001507	HP:0004322	Short stature	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0001507	HP:0004325	Decreased body weight	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0001507	HP:0004322	Short stature	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		135
HP:0001507	HP:0004322	Short stature	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0001507	HP:0000823	Delayed puberty	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0001507	HP:0004322	Short stature	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0001507	HP:0008897	Postnatal growth retardation	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0001507	HP:0004325	Decreased body weight	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001507	HP:0004325	Decreased body weight	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C			9
HP:0001507	HP:0004322	Short stature	2	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040284 - Very rare
HP:0001507	HP:0000823	Delayed puberty	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0001507	HP:0004322	Short stature	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0001507	HP:0004324	Increased body weight	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0004325	Decreased body weight	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0008897	Postnatal growth retardation	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0004322	Short stature	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0001507	HP:0004322	Short stature	2	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001507	HP:0004322	Short stature	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		9
HP:0001507	HP:0004325	Decreased body weight	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001507	HP:0004322	Short stature	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		391
HP:0001507	HP:0004325	Decreased body weight	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001507	HP:0004322	Short stature	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.		391
HP:0001507	HP:0004322	Short stature	2	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001507	HP:0004322	Short stature	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0001507	HP:0004322	Short stature	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001507	HP:0004324	Increased body weight	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0001507	HP:0004322	Short stature	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		212
HP:0001507	HP:0004325	Decreased body weight	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0001507	HP:0004325	Decreased body weight	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001507	HP:0004325	Decreased body weight	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0001507	HP:0004325	Decreased body weight	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0001507	HP:0004325	Decreased body weight	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0001507	HP:0004325	Decreased body weight	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001507	HP:0004325	Decreased body weight	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0001507	HP:0004325	Decreased body weight	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0001507	HP:0004322	Short stature	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional		150
HP:0001507	HP:0004325	Decreased body weight	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0001507	HP:0004325	Decreased body weight	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001507	HP:0000823	Delayed puberty	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		150
HP:0001507	HP:0004322	Short stature	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0001507	HP:0004322	Short stature	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001507	HP:0004324	Increased body weight	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001507	HP:0004324	Increased body weight	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001507	HP:0004325	Decreased body weight	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0001507	HP:0004325	Decreased body weight	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001507	HP:0004325	Decreased body weight	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0004325	Decreased body weight	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0001507	HP:0004325	Decreased body weight	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0001507	HP:0001528	Hemihypertrophy	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0001507	HP:0100559	Lower limb asymmetry	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0001507	HP:0004322	Short stature	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0004325	Decreased body weight	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent		365
HP:0001507	HP:0004322	Short stature	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent		365
HP:0001507	HP:0004325	Decreased body weight	2	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0004322	Short stature	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0004325	Decreased body weight	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0001507	HP:0004322	Short stature	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.		68
HP:0001507	HP:0004325	Decreased body weight	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0001507	HP:0004325	Decreased body weight	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0004325	Decreased body weight	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001507	HP:0004325	Decreased body weight	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001507	HP:0000823	Delayed puberty	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0001507	HP:0004322	Short stature	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0001507	HP:0000823	Delayed puberty	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001507	HP:0004324	Increased body weight	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0001507	HP:0004324	Increased body weight	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0001507	HP:0004325	Decreased body weight	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001507	HP:0004322	Short stature	2	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome	.		2
HP:0001507	HP:0004322	Short stature	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004324	Increased body weight	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent		445
HP:0001507	HP:0004322	Short stature	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0001507	HP:0004322	Short stature	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent		445
HP:0001507	HP:0004325	Decreased body weight	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0001507	HP:0004322	Short stature	2	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.		445
HP:0001507	HP:0004322	Short stature	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0001507	HP:0004325	Decreased body weight	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0001507	HP:0004322	Short stature	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0001507	HP:0004325	Decreased body weight	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0001507	HP:0004324	Increased body weight	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0001507	HP:0004325	Decreased body weight	2	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		334
HP:0001507	HP:0100559	Lower limb asymmetry	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001507	HP:0004322	Short stature	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001507	HP:0004324	Increased body weight	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001507	HP:0004325	Decreased body weight	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001507	HP:0000098	Tall stature	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001507	HP:0004322	Short stature	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0008897	Postnatal growth retardation	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0004325	Decreased body weight	2	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0001507	HP:0004325	Decreased body weight	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001507	HP:0004325	Decreased body weight	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0001507	HP:0004322	Short stature	2	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		572
HP:0001507	HP:0004325	Decreased body weight	2	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0001507	HP:0000098	Tall stature	2	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0001507	HP:0004325	Decreased body weight	2	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0001507	HP:0004325	Decreased body weight	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0001507	HP:0004322	Short stature	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001507	HP:0004322	Short stature	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0001507	HP:0004325	Decreased body weight	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0001507	HP:0004322	Short stature	2	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0001507	HP:0004325	Decreased body weight	2	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W	.
HP:0001507	HP:0004325	Decreased body weight	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0001507	HP:0004325	Decreased body weight	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0001507	HP:0004325	Decreased body weight	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0001507	HP:0004325	Decreased body weight	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0001507	HP:0004325	Decreased body weight	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0001507	HP:0004325	Decreased body weight	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0001507	HP:0004324	Increased body weight	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0001507	HP:0004325	Decreased body weight	2	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0001507	HP:0004324	Increased body weight	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0001507	HP:0004322	Short stature	2	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.		43
HP:0001507	HP:0004325	Decreased body weight	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.		43
HP:0001507	HP:0004322	Short stature	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0001507	HP:0004325	Decreased body weight	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.		69
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent		3
HP:0001507	HP:0004322	Short stature	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0001507	HP:0004322	Short stature	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0004324	Increased body weight	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0004325	Decreased body weight	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0004324	Increased body weight	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0001507	HP:0004322	Short stature	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0004322	Short stature	2	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0004322	Short stature	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001507	HP:0004322	Short stature	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001507	HP:0004325	Decreased body weight	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001507	HP:0031087	Absent pubertal growth spurt	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0001507	HP:0004322	Short stature	2	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis			37
HP:0001507	HP:0004325	Decreased body weight	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001507	HP:0004322	Short stature	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0001507	HP:0004322	Short stature	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0001507	HP:0004322	Short stature	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0001507	HP:0004322	Short stature	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0001507	HP:0001528	Hemihypertrophy	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0001507	HP:0004325	Decreased body weight	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001507	HP:0004325	Decreased body weight	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0001507	HP:0000098	Tall stature	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0004324	Increased body weight	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0001507	HP:0004322	Short stature	2	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0001507	HP:0004322	Short stature	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001507	HP:0004325	Decreased body weight	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001507	HP:0004322	Short stature	2	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0004322	Short stature	2	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0001507	HP:0004324	Increased body weight	2	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0001507	HP:0008897	Postnatal growth retardation	2	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0001507	HP:0004322	Short stature	2	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0004322	Short stature	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0004325	Decreased body weight	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0004322	Short stature	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040281 - Very frequent		15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0001507	HP:0004322	Short stature	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001507	HP:0004322	Short stature	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0004325	Decreased body weight	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0008897	Postnatal growth retardation	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0001507	HP:0004322	Short stature	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.		15
HP:0001507	HP:0004322	Short stature	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0001507	HP:0008897	Postnatal growth retardation	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001507	HP:0008897	Postnatal growth retardation	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0001507	HP:0004322	Short stature	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001507	HP:0004325	Decreased body weight	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001507	HP:0000823	Delayed puberty	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0004322	Short stature	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0001507	HP:0004322	Short stature	2	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040283 - Occasional		57
HP:0001507	HP:0004324	Increased body weight	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0001507	HP:0004322	Short stature	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001507	HP:0004322	Short stature	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		HP:0003593 - Infantile onset	120
HP:0001507	HP:0004324	Increased body weight	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0001507	HP:0004324	Increased body weight	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0001507	HP:0004324	Increased body weight	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0001507	HP:0004324	Increased body weight	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0001507	HP:0004324	Increased body weight	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0001507	HP:0004324	Increased body weight	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001507	HP:0004322	Short stature	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001507	HP:0000823	Delayed puberty	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0008897	Postnatal growth retardation	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0001507	HP:0004322	Short stature	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001507	HP:0004325	Decreased body weight	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001507	HP:0004322	Short stature	2	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0001507	HP:0008897	Postnatal growth retardation	2	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0001507	HP:0004322	Short stature	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001507	HP:0004325	Decreased body weight	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0004322	Short stature	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0004322	Short stature	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001507	HP:0004325	Decreased body weight	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0004322	Short stature	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.		3
HP:0001507	HP:0004322	Short stature	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0004322	Short stature	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0004322	Short stature	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0004322	Short stature	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0001507	HP:0004325	Decreased body weight	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001507	HP:0004322	Short stature	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5	.		11
HP:0001507	HP:0004322	Short stature	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0001507	HP:0004325	Decreased body weight	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001507	HP:0004325	Decreased body weight	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001507	HP:0004322	Short stature	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0001507	HP:0004325	Decreased body weight	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001507	HP:0004322	Short stature	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001507	HP:0004322	Short stature	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0001507	HP:0004325	Decreased body weight	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001507	HP:0004322	Short stature	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.		5
HP:0001507	HP:0004322	Short stature	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0001507	HP:0004325	Decreased body weight	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0001507	HP:0004322	Short stature	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001507	HP:0004325	Decreased body weight	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001507	HP:0004322	Short stature	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0004325	Decreased body weight	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0001507	HP:0004322	Short stature	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0001507	HP:0004322	Short stature	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001507	HP:0004325	Decreased body weight	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001507	HP:0004322	Short stature	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001507	HP:0004325	Decreased body weight	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0004322	Short stature	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0001507	HP:0004322	Short stature	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0004322	Short stature	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0004322	Short stature	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0001507	HP:0004322	Short stature	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001507	HP:0004325	Decreased body weight	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001507	HP:0004322	Short stature	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0001507	HP:0004322	Short stature	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0004325	Decreased body weight	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0001507	HP:0004325	Decreased body weight	2	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0001507	HP:0004322	Short stature	2	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional		65
HP:0001507	HP:0004324	Increased body weight	2	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers			65
HP:0001507	HP:0004322	Short stature	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001507	HP:0004325	Decreased body weight	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001507	HP:0004322	Short stature	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.		20
HP:0001507	HP:0004322	Short stature	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001507	HP:0004325	Decreased body weight	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0001507	HP:0004325	Decreased body weight	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0001507	HP:0004322	Short stature	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0001507	HP:0004322	Short stature	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.		58
HP:0001507	HP:0004322	Short stature	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12			20
HP:0001507	HP:0004322	Short stature	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0001507	HP:0004322	Short stature	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.		77
HP:0001507	HP:0008897	Postnatal growth retardation	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.		77
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0001507	HP:0004322	Short stature	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0001507	HP:0004325	Decreased body weight	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0001507	HP:0000098	Tall stature	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001507	HP:0004324	Increased body weight	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001507	HP:0004325	Decreased body weight	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001507	HP:0008897	Postnatal growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040284 - Very rare
HP:0001507	HP:0008897	Postnatal growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001507	HP:0000098	Tall stature	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare
HP:0001507	HP:0004322	Short stature	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001507	HP:0004324	Increased body weight	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001507	HP:0008897	Postnatal growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0001507	HP:0004325	Decreased body weight	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0001507	HP:0008897	Postnatal growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0001507	HP:0008897	Postnatal growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0001507	HP:0008897	Postnatal growth retardation	2	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0001507	HP:0004322	Short stature	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0004325	Decreased body weight	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0004322	Short stature	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0001507	HP:0004325	Decreased body weight	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0001507	HP:0004325	Decreased body weight	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0001507	HP:0004322	Short stature	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0001507	HP:0004322	Short stature	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent		90
HP:0001507	HP:0004322	Short stature	2	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.		90
HP:0001507	HP:0004324	Increased body weight	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001507	HP:0008897	Postnatal growth retardation	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001507	HP:0004325	Decreased body weight	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0001507	HP:0004322	Short stature	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001507	HP:0004325	Decreased body weight	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001507	HP:0004325	Decreased body weight	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001507	HP:0004324	Increased body weight	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0001507	HP:0000823	Delayed puberty	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001507	HP:0100559	Lower limb asymmetry	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001507	HP:0004322	Short stature	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001507	HP:0004325	Decreased body weight	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001507	HP:0004325	Decreased body weight	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001507	HP:0008897	Postnatal growth retardation	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0001507	HP:0004322	Short stature	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0001507	HP:0004322	Short stature	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0001507	HP:0004325	Decreased body weight	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0001507	HP:0004322	Short stature	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0001507	HP:0004325	Decreased body weight	2	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease			8
HP:0001507	HP:0004325	Decreased body weight	2	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0001507	HP:0000098	Tall stature	2	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0001507	HP:0004325	Decreased body weight	2	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0001507	HP:0004325	Decreased body weight	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0001507	HP:0004322	Short stature	2	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0004324	Increased body weight	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0004325	Decreased body weight	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0004322	Short stature	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040281 - Very frequent		34
HP:0001507	HP:0004322	Short stature	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0001507	HP:0008897	Postnatal growth retardation	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0001507	HP:0100559	Lower limb asymmetry	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional		34
HP:0001507	HP:0008897	Postnatal growth retardation	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0001507	HP:0004322	Short stature	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0001507	HP:0004325	Decreased body weight	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0001507	HP:0004322	Short stature	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0001507	HP:0004325	Decreased body weight	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0001507	HP:0004325	Decreased body weight	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0001507	HP:0004322	Short stature	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0001507	HP:0004324	Increased body weight	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0001507	HP:0000823	Delayed puberty	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0001507	HP:0004325	Decreased body weight	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001507	HP:0004325	Decreased body weight	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001507	HP:0004325	Decreased body weight	2	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0001507	HP:0004322	Short stature	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0001507	HP:0004325	Decreased body weight	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001507	HP:0004322	Short stature	2	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0001507	HP:0004322	Short stature	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0001507	HP:0004325	Decreased body weight	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001507	HP:0004322	Short stature	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0001507	HP:0004325	Decreased body weight	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0001507	HP:0004325	Decreased body weight	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0001507	HP:0004325	Decreased body weight	2	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0001507	HP:0004322	Short stature	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0001507	HP:0004325	Decreased body weight	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0001507	HP:0004325	Decreased body weight	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0001507	HP:0004322	Short stature	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0001507	HP:0004325	Decreased body weight	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0001507	HP:0004325	Decreased body weight	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001507	HP:0004325	Decreased body weight	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001507	HP:0004325	Decreased body weight	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0001507	HP:0008897	Postnatal growth retardation	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0001507	HP:0004324	Increased body weight	2	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0001507	HP:0004322	Short stature	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		61
HP:0001507	HP:0004324	Increased body weight	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0001507	HP:0004324	Increased body weight	2	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0001507	HP:0004322	Short stature	2	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0001507	HP:0004325	Decreased body weight	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0001507	HP:0004322	Short stature	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001507	HP:0004325	Decreased body weight	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001507	HP:0004325	Decreased body weight	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001507	HP:0004322	Short stature	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0001507	HP:0004322	Short stature	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001507	HP:0004325	Decreased body weight	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001507	HP:0004325	Decreased body weight	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0001507	HP:0004325	Decreased body weight	2	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome			237
HP:0001507	HP:0004322	Short stature	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0001507	HP:0004325	Decreased body weight	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0001507	HP:0004325	Decreased body weight	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0001507	HP:0004322	Short stature	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001507	HP:0004325	Decreased body weight	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001507	HP:0004325	Decreased body weight	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0001507	HP:0004325	Decreased body weight	2	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome			147
HP:0001507	HP:0004322	Short stature	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0001507	HP:0004325	Decreased body weight	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0001507	HP:0004325	Decreased body weight	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0001507	HP:0004325	Decreased body weight	2	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome			129
HP:0001507	HP:0004322	Short stature	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0001507	HP:0004325	Decreased body weight	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0001507	HP:0004325	Decreased body weight	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0001507	HP:0004322	Short stature	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001507	HP:0004325	Decreased body weight	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001507	HP:0004325	Decreased body weight	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0001507	HP:0004322	Short stature	2	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		2
HP:0001507	HP:0004322	Short stature	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0001507	HP:0004322	Short stature	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0001507	HP:0004325	Decreased body weight	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004322	Short stature	2	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0004322	Short stature	2	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0001507	HP:0008897	Postnatal growth retardation	2	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001507	HP:0004325	Decreased body weight	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.		2
HP:0001507	HP:0004322	Short stature	2	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.		2
HP:0001507	HP:0004322	Short stature	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001507	HP:0004324	Increased body weight	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001507	HP:0004322	Short stature	2	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal	.		3
HP:0001507	HP:0004322	Short stature	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001507	HP:0004322	Short stature	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0001507	HP:0004325	Decreased body weight	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001507	HP:0004325	Decreased body weight	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001507	HP:0004325	Decreased body weight	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001507	HP:0004322	Short stature	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001507	HP:0004325	Decreased body weight	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001507	HP:0000823	Delayed puberty	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		14
HP:0001507	HP:0004324	Increased body weight	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0001507	HP:0004322	Short stature	2	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0004322	Short stature	2	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		2
HP:0001507	HP:0004325	Decreased body weight	2	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0001507	HP:0000823	Delayed puberty	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0001507	HP:0004322	Short stature	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0008897	Postnatal growth retardation	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0004325	Decreased body weight	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0001507	HP:0004324	Increased body weight	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0004325	Decreased body weight	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent		6
HP:0001507	HP:0004322	Short stature	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent		6
HP:0001507	HP:0004322	Short stature	2	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0001507	HP:0004322	Short stature	2	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0001507	HP:0004325	Decreased body weight	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0001507	HP:0045081	Abnormality of body mass index	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0001507	HP:0004322	Short stature	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0001507	HP:0004322	Short stature	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0001507	HP:0004324	Increased body weight	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0001507	HP:0004325	Decreased body weight	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001507	HP:0008897	Postnatal growth retardation	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0001507	HP:0004325	Decreased body weight	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0001507	HP:0004322	Short stature	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001507	HP:0004324	Increased body weight	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001507	HP:0000098	Tall stature	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0004322	Short stature	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0001507	HP:0004324	Increased body weight	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0000098	Tall stature	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040281 - Very frequent		60
HP:0001507	HP:0100559	Lower limb asymmetry	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0001507	HP:0100559	Lower limb asymmetry	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0001507	HP:0004322	Short stature	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040283 - Occasional		49
HP:0001507	HP:0004325	Decreased body weight	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1			51
HP:0001507	HP:0004325	Decreased body weight	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0001507	HP:0004322	Short stature	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0001507	HP:0004325	Decreased body weight	2	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	.		2
HP:0001507	HP:0004324	Increased body weight	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0001507	HP:0004324	Increased body weight	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001507	HP:0004322	Short stature	2	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0001507	HP:0004324	Increased body weight	2	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0001507	HP:0004325	Decreased body weight	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0001507	HP:0004324	Increased body weight	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0001507	HP:0000098	Tall stature	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001507	HP:0004322	Short stature	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0004325	Decreased body weight	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0001507	HP:0004322	Short stature	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0001507	HP:0004325	Decreased body weight	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0001507	HP:0004322	Short stature	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0001507	HP:0004322	Short stature	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0004325	Decreased body weight	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0001507	HP:0004322	Short stature	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0004325	Decreased body weight	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0001507	HP:0004322	Short stature	2	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0001507	HP:0004322	Short stature	2	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent		67
HP:0001507	HP:0004322	Short stature	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent		74
HP:0001507	HP:0004322	Short stature	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0004324	Increased body weight	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0004325	Decreased body weight	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0004322	Short stature	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0001507	HP:0004322	Short stature	2	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0001507	HP:0004322	Short stature	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0001507	HP:0004322	Short stature	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0001507	HP:0004322	Short stature	2	SHOX CL E G H	6473	10853	OMIM:300582	SHORT STATURE, IDIOPATHIC, X-LINKED; ISS			66
HP:0001507	HP:0004322	Short stature	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0001507	HP:0004324	Increased body weight	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0001507	HP:0004322	Short stature	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0001507	HP:0008897	Postnatal growth retardation	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001507	HP:0004322	Short stature	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0001507	HP:0004325	Decreased body weight	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0001507	HP:0004325	Decreased body weight	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0001507	HP:0004325	Decreased body weight	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001507	HP:0004322	Short stature	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001507	HP:0004322	Short stature	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0001507	HP:0004322	Short stature	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0001507	HP:0004325	Decreased body weight	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0001507	HP:0004324	Increased body weight	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0001507	HP:0004324	Increased body weight	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0001507	HP:0004324	Increased body weight	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0001507	HP:0004325	Decreased body weight	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0001507	HP:0004322	Short stature	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0001507	HP:0004324	Increased body weight	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0001507	HP:0004325	Decreased body weight	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0001507	HP:0008897	Postnatal growth retardation	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0001507	HP:0004322	Short stature	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0001507	HP:0004324	Increased body weight	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0004325	Decreased body weight	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia			2
HP:0001507	HP:0004322	Short stature	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0004322	Short stature	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004322	Short stature	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004322	Short stature	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0004322	Short stature	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0004322	Short stature	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0001507	HP:0008897	Postnatal growth retardation	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0001507	HP:0100559	Lower limb asymmetry	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001507	HP:0004322	Short stature	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001507	HP:0004324	Increased body weight	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001507	HP:0004325	Decreased body weight	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001507	HP:0004325	Decreased body weight	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0001507	HP:0004325	Decreased body weight	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001507	HP:0004322	Short stature	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001507	HP:0004325	Decreased body weight	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001507	HP:0004325	Decreased body weight	2	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary			6
HP:0001507	HP:0004322	Short stature	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001507	HP:0004324	Increased body weight	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0001507	HP:0004325	Decreased body weight	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0045081	Abnormality of body mass index	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0004325	Decreased body weight	2	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis			2
HP:0001507	HP:0004322	Short stature	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001507	HP:0004325	Decreased body weight	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001507	HP:0000823	Delayed puberty	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		145
HP:0001507	HP:0000823	Delayed puberty	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0001507	HP:0004325	Decreased body weight	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001507	HP:0004325	Decreased body weight	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0001507	HP:0004322	Short stature	2	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040283 - Occasional		73
HP:0001507	HP:0004322	Short stature	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0001507	HP:0004325	Decreased body weight	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001507	HP:0004322	Short stature	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0001507	HP:0004325	Decreased body weight	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001507	HP:0045081	Abnormality of body mass index	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001507	HP:0004325	Decreased body weight	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0001507	HP:0004322	Short stature	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0001507	HP:0004325	Decreased body weight	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001507	HP:0004322	Short stature	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001507	HP:0004325	Decreased body weight	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001507	HP:0004325	Decreased body weight	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		70
HP:0001507	HP:0004325	Decreased body weight	2	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0004325	Decreased body weight	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001507	HP:0000823	Delayed puberty	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0001507	HP:0045081	Abnormality of body mass index	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional		82
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0004322	Short stature	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0004322	Short stature	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001507	HP:0004324	Increased body weight	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001507	HP:0004325	Decreased body weight	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0001507	HP:0004322	Short stature	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001507	HP:0004322	Short stature	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001507	HP:0004322	Short stature	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent		166
HP:0001507	HP:0004322	Short stature	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0001507	HP:0004322	Short stature	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0004325	Decreased body weight	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0004322	Short stature	2	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.		166
HP:0001507	HP:0004322	Short stature	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0001507	HP:0004325	Decreased body weight	2	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0001507	HP:0004322	Short stature	2	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		274
HP:0001507	HP:0004322	Short stature	2	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		274
HP:0001507	HP:0004325	Decreased body weight	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0001507	HP:0045081	Abnormality of body mass index	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0001507	HP:0004322	Short stature	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0001507	HP:0000823	Delayed puberty	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0004322	Short stature	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent		68
HP:0001507	HP:0004322	Short stature	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001507	HP:0004322	Short stature	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0001507	HP:0008897	Postnatal growth retardation	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0001507	HP:0004322	Short stature	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent			71
HP:0001507	HP:0004325	Decreased body weight	2	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0001507	HP:0004325	Decreased body weight	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0001507	HP:0004325	Decreased body weight	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0001507	HP:0045081	Abnormality of body mass index	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001507	HP:0004325	Decreased body weight	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001507	HP:0004322	Short stature	2	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.		47
HP:0001507	HP:0004322	Short stature	2	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional		47
HP:0001507	HP:0004325	Decreased body weight	2	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2			47
HP:0001507	HP:0004325	Decreased body weight	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0001507	HP:0004325	Decreased body weight	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001507	HP:0004322	Short stature	2	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional		52
HP:0001507	HP:0004325	Decreased body weight	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0001507	HP:0004322	Short stature	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0001507	HP:0004325	Decreased body weight	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001507	HP:0004322	Short stature	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent		71
HP:0001507	HP:0004322	Short stature	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent		71
HP:0001507	HP:0004325	Decreased body weight	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0001507	HP:0004322	Short stature	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001507	HP:0004322	Short stature	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001507	HP:0004325	Decreased body weight	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001507	HP:0000823	Delayed puberty	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0001507	HP:0004322	Short stature	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent		110
HP:0001507	HP:0004325	Decreased body weight	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0001507	HP:0000823	Delayed puberty	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0001507	HP:0004322	Short stature	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0001507	HP:0000823	Delayed puberty	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0001507	HP:0004322	Short stature	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004322	Short stature	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0001507	HP:0004322	Short stature	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0001507	HP:0004325	Decreased body weight	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0001507	HP:0004322	Short stature	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent		55
HP:0001507	HP:0004325	Decreased body weight	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0001507	HP:0004322	Short stature	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0001507	HP:0004325	Decreased body weight	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0001507	HP:0004325	Decreased body weight	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001507	HP:0004322	Short stature	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0001507	HP:0004322	Short stature	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040282 - Frequent		11
HP:0001507	HP:0004325	Decreased body weight	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001507	HP:0004325	Decreased body weight	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0001507	HP:0004325	Decreased body weight	2	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0001507	HP:0004325	Decreased body weight	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0001507	HP:0004325	Decreased body weight	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0001507	HP:0004322	Short stature	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.		109
HP:0001507	HP:0004325	Decreased body weight	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001507	HP:0004322	Short stature	2	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0001507	HP:0004325	Decreased body weight	2	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001507	HP:0004325	Decreased body weight	2	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption			74
HP:0001507	HP:0004325	Decreased body weight	2	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0001507	HP:0008897	Postnatal growth retardation	2	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria			41
HP:0001507	HP:0004325	Decreased body weight	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045081	Abnormality of body mass index	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0004322	Short stature	2	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional		12
HP:0001507	HP:0004322	Short stature	2	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder	HP:0040283 - Occasional		12
HP:0001507	HP:0000098	Tall stature	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0001507	HP:0004322	Short stature	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0001507	HP:0004325	Decreased body weight	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0001507	HP:0004322	Short stature	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent		122
HP:0001507	HP:0004325	Decreased body weight	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0001507	HP:0004324	Increased body weight	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0001507	HP:0004322	Short stature	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0001507	HP:0004324	Increased body weight	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001507	HP:0004325	Decreased body weight	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0001507	HP:0004325	Decreased body weight	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001507	HP:0004322	Short stature	2	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0004325	Decreased body weight	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0001507	HP:0045081	Abnormality of body mass index	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0001507	HP:0004325	Decreased body weight	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0001507	HP:0004325	Decreased body weight	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001507	HP:0004322	Short stature	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		274
HP:0001507	HP:0004325	Decreased body weight	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001507	HP:0004322	Short stature	2	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.		274
HP:0001507	HP:0004322	Short stature	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001507	HP:0031853	Isomerism	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001507	HP:0000098	Tall stature	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		7
HP:0001507	HP:0000098	Tall stature	2	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0001507	HP:0000098	Tall stature	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0001507	HP:0000098	Tall stature	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		260
HP:0001507	HP:0000098	Tall stature	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001507	HP:0004325	Decreased body weight	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0001507	HP:0000098	Tall stature	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		504
HP:0001507	HP:0004325	Decreased body weight	2	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome			504
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0001507	HP:0004322	Short stature	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0001507	HP:0004322	Short stature	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0001507	HP:0004324	Increased body weight	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0004325	Decreased body weight	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0001507	HP:0004322	Short stature	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0004322	Short stature	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0004325	Decreased body weight	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		617
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0001507	HP:0004322	Short stature	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0004322	Short stature	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0004325	Decreased body weight	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040281 - Very frequent		74
HP:0001507	HP:0004322	Short stature	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040281 - Very frequent		74
HP:0001507	HP:0004325	Decreased body weight	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		87
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0001507	HP:0004322	Short stature	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0001507	HP:0004324	Increased body weight	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		1
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		47
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.		47
HP:0001507	HP:0004322	Short stature	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001507	HP:0004324	Increased body weight	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0001507	HP:0000823	Delayed puberty	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0001507	HP:0004322	Short stature	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0001507	HP:0004324	Increased body weight	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0004325	Decreased body weight	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001507	HP:0004322	Short stature	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001507	HP:0004322	Short stature	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		135
HP:0001507	HP:0004325	Decreased body weight	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0001507	HP:0000823	Delayed puberty	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0001507	HP:0004322	Short stature	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0001507	HP:0004324	Increased body weight	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0004325	Decreased body weight	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0004322	Short stature	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001507	HP:0004322	Short stature	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001507	HP:0004322	Short stature	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001507	HP:0004322	Short stature	2	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		22
HP:0001507	HP:0004325	Decreased body weight	2	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0001507	HP:0004322	Short stature	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0001507	HP:0004324	Increased body weight	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0001507	HP:0004322	Short stature	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0001507	HP:0004325	Decreased body weight	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0001507	HP:0008897	Postnatal growth retardation	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0001507	HP:0000823	Delayed puberty	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0001507	HP:0004322	Short stature	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0001507	HP:0004322	Short stature	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0001507	HP:0004325	Decreased body weight	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001507	HP:0004322	Short stature	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.		164
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001507	HP:0004322	Short stature	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001507	HP:0000098	Tall stature	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0001507	HP:0004322	Short stature	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0001507	HP:0000098	Tall stature	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0001507	HP:0004322	Short stature	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0001507	HP:0004322	Short stature	2	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional		94
HP:0001507	HP:0004325	Decreased body weight	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0001507	HP:0004325	Decreased body weight	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0001507	HP:0004325	Decreased body weight	2	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4			65
HP:0001507	HP:0000823	Delayed puberty	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004324	Increased body weight	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004325	Decreased body weight	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0000823	Delayed puberty	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004322	Short stature	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004324	Increased body weight	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004325	Decreased body weight	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0004324	Increased body weight	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0004322	Short stature	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0008897	Postnatal growth retardation	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001507	HP:0004324	Increased body weight	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0001507	HP:0004324	Increased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0001507	HP:0004322	Short stature	2	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0001507	HP:0004324	Increased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001507	HP:0000823	Delayed puberty	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0001507	HP:0004322	Short stature	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0001507	HP:0004324	Increased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001507	HP:0004325	Decreased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001507	HP:0000823	Delayed puberty	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0001507	HP:0004322	Short stature	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0001507	HP:0004324	Increased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001507	HP:0004325	Decreased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001507	HP:0000823	Delayed puberty	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0001507	HP:0004322	Short stature	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0001507	HP:0004324	Increased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001507	HP:0004325	Decreased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001507	HP:0004322	Short stature	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent		37
HP:0001507	HP:0004324	Increased body weight	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001507	HP:0004325	Decreased body weight	2	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0001507	HP:0004322	Short stature	2	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5	.		3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0001507	HP:0004322	Short stature	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001507	HP:0004325	Decreased body weight	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0004322	Short stature	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0004325	Decreased body weight	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0004322	Short stature	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0001507	HP:0004322	Short stature	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001507	HP:0004324	Increased body weight	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001507	HP:0004322	Short stature	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0001507	HP:0004322	Short stature	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001507	HP:0004322	Short stature	2	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent		26
HP:0001507	HP:0004322	Short stature	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0001507	HP:0000098	Tall stature	2	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		26
HP:0001507	HP:0000098	Tall stature	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0001507	HP:0000823	Delayed puberty	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		61
HP:0001507	HP:0004324	Increased body weight	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		14
HP:0001507	HP:0008897	Postnatal growth retardation	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0000823	Delayed puberty	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0001507	HP:0004322	Short stature	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0001507	HP:0004322	Short stature	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0001507	HP:0008897	Postnatal growth retardation	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0001507	HP:0004322	Short stature	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		33
HP:0001507	HP:0004324	Increased body weight	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0001507	HP:0004322	Short stature	2	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	.		24
HP:0001507	HP:0000823	Delayed puberty	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		24
HP:0001507	HP:0004322	Short stature	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		24
HP:0001507	HP:0004322	Short stature	2	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked			24
HP:0001507	HP:0004322	Short stature	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		24
HP:0001507	HP:0004324	Increased body weight	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0001507	HP:0004322	Short stature	2	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040281 - Very frequent		24
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0001507	HP:0008897	Postnatal growth retardation	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001507	HP:0000823	Delayed puberty	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		109
HP:0001507	HP:0004322	Short stature	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent		109
HP:0001507	HP:0004322	Short stature	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001507	HP:0004325	Decreased body weight	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001507	HP:0004325	Decreased body weight	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0001507	HP:0004322	Short stature	2	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0001507	HP:0004322	Short stature	2	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0001507	HP:0004322	Short stature	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0001507	HP:0004322	Short stature	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0001507	HP:0004325	Decreased body weight	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0001507	HP:0004324	Increased body weight	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0001507	HP:0004322	Short stature	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0001507	HP:0100559	Lower limb asymmetry	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0004322	Short stature	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0004324	Increased body weight	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001507	HP:0004325	Decreased body weight	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001507	HP:0004324	Increased body weight	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001507	HP:0004324	Increased body weight	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0001507	HP:0004325	Decreased body weight	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0001507	HP:0004324	Increased body weight	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0001507	HP:0000823	Delayed puberty	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional		2
HP:0001507	HP:0000823	Delayed puberty	2	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9			2
HP:0001507	HP:0004325	Decreased body weight	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0001507	HP:0004322	Short stature	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040283 - Occasional		100
HP:0001507	HP:0004325	Decreased body weight	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0001507	HP:0004325	Decreased body weight	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001507	HP:0004325	Decreased body weight	2	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0001507	HP:0004322	Short stature	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001507	HP:0004322	Short stature	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001507	HP:0004322	Short stature	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0001507	HP:0004325	Decreased body weight	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0001507	HP:0000823	Delayed puberty	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0004324	Increased body weight	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0001507	HP:0000823	Delayed puberty	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		5
HP:0001507	HP:0004325	Decreased body weight	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0001507	HP:0008897	Postnatal growth retardation	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0001507	HP:0008897	Postnatal growth retardation	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0001507	HP:0000823	Delayed puberty	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0004324	Increased body weight	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0004325	Decreased body weight	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0004325	Decreased body weight	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0001507	HP:0004322	Short stature	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040281 - Very frequent		138
HP:0001507	HP:0004322	Short stature	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0001507	HP:0004325	Decreased body weight	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001507	HP:0004325	Decreased body weight	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0001507	HP:0004322	Short stature	2	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0004322	Short stature	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001507	HP:0004322	Short stature	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001507	HP:0004322	Short stature	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001507	HP:0004325	Decreased body weight	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0001507	HP:0004325	Decreased body weight	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0001507	HP:0004325	Decreased body weight	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0001507	HP:0000823	Delayed puberty	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0001507	HP:0004322	Short stature	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040281 - Very frequent		23
HP:0001507	HP:0004324	Increased body weight	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001507	HP:0000823	Delayed puberty	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		23
HP:0001507	HP:0000098	Tall stature	2	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.		23
HP:0001507	HP:0000098	Tall stature	2	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.		23
HP:0001507	HP:0004325	Decreased body weight	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0001507	HP:0004325	Decreased body weight	2	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0001507	HP:0004325	Decreased body weight	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0001507	HP:0004322	Short stature	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0001507	HP:0004322	Short stature	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001507	HP:0004325	Decreased body weight	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0004322	Short stature	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0004325	Decreased body weight	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0001507	HP:0004322	Short stature	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0004322	Short stature	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0001507	HP:0004325	Decreased body weight	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001507	HP:0004322	Short stature	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0004322	Short stature	2	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0004322	Short stature	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	HP:0040283 - Occasional		24
HP:0001507	HP:0004325	Decreased body weight	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001507	HP:0000098	Tall stature	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional		45
HP:0001507	HP:0004325	Decreased body weight	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0001507	HP:0000823	Delayed puberty	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0001507	HP:0004322	Short stature	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent		89
HP:0001507	HP:0000823	Delayed puberty	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0001507	HP:0004322	Short stature	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0001507	HP:0004325	Decreased body weight	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001507	HP:0004325	Decreased body weight	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0001507	HP:0000823	Delayed puberty	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001507	HP:0004322	Short stature	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0001507	HP:0004325	Decreased body weight	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0001507	HP:0004325	Decreased body weight	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0001507	HP:0004325	Decreased body weight	2	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0004325	Decreased body weight	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0008897	Postnatal growth retardation	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0001507	HP:0004325	Decreased body weight	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0001507	HP:0000823	Delayed puberty	2	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0001507	HP:0004322	Short stature	2	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0001507	HP:0008897	Postnatal growth retardation	2	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0001507	HP:0004322	Short stature	2	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0004325	Decreased body weight	2	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0004325	Decreased body weight	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0001507	HP:0004324	Increased body weight	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0001507	HP:0004322	Short stature	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0004325	Decreased body weight	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0001507	HP:0004322	Short stature	2	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0004322	Short stature	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0001507	HP:0004325	Decreased body weight	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0001507	HP:0004322	Short stature	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0004325	Decreased body weight	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0001507	HP:0004322	Short stature	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0004325	Decreased body weight	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0001507	HP:0004322	Short stature	2	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0001507	HP:0004322	Short stature	2	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		31
HP:0001507	HP:0004325	Decreased body weight	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		2
HP:0001507	HP:0004325	Decreased body weight	2	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0001507	HP:0045081	Abnormality of body mass index	2	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		71
HP:0001507	HP:0004325	Decreased body weight	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001507	HP:0004322	Short stature	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001507	HP:0000098	Tall stature	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001507	HP:0004325	Decreased body weight	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001507	HP:0004325	Decreased body weight	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001507	HP:0004322	Short stature	2	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional		19
HP:0001507	HP:0004325	Decreased body weight	2	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw			21
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0001507	HP:0004322	Short stature	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0001507	HP:0004325	Decreased body weight	2	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0001507	HP:0004325	Decreased body weight	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0001507	HP:0001511	Intrauterine growth retardation	2	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent		18
HP:0001507	HP:0004325	Decreased body weight	2	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0001507	HP:0000823	Delayed puberty	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0001507	HP:0004325	Decreased body weight	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0001507	HP:0004322	Short stature	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		86
HP:0001507	HP:0004324	Increased body weight	2	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB			86
HP:0001507	HP:0004325	Decreased body weight	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045081	Abnormality of body mass index	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0004322	Short stature	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0001507	HP:0004322	Short stature	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0001507	HP:0004325	Decreased body weight	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0001507	HP:0004325	Decreased body weight	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001507	HP:0004325	Decreased body weight	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001507	HP:0000098	Tall stature	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0001507	HP:0004324	Increased body weight	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0001507	HP:0004324	Increased body weight	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0001507	HP:0001511	Intrauterine growth retardation	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0001507	HP:0004322	Short stature	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0001507	HP:0004325	Decreased body weight	2	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0001507	HP:0004325	Decreased body weight	2	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III			8
HP:0001507	HP:0004322	Short stature	2	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		4
HP:0001507	HP:0004322	Short stature	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0001507	HP:0004322	Short stature	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0001507	HP:0004325	Decreased body weight	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0001507	HP:0004325	Decreased body weight	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001507	HP:0004325	Decreased body weight	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001507	HP:0000098	Tall stature	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0001507	HP:0000098	Tall stature	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0001507	HP:0004325	Decreased body weight	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001507	HP:0004324	Increased body weight	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001507	HP:0004325	Decreased body weight	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001507	HP:0008897	Postnatal growth retardation	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001507	HP:0004324	Increased body weight	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001507	HP:0004322	Short stature	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0001507	HP:0004325	Decreased body weight	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001507	HP:0004322	Short stature	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0001507	HP:0004325	Decreased body weight	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001507	HP:0004325	Decreased body weight	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001507	HP:0004322	Short stature	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0001507	HP:0004325	Decreased body weight	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001507	HP:0004322	Short stature	2	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0000823	Delayed puberty	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0001507	HP:0004325	Decreased body weight	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0001507	HP:0004325	Decreased body weight	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001507	HP:0004322	Short stature	2	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0001507	HP:0000823	Delayed puberty	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		34
HP:0001507	HP:0004324	Increased body weight	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0001507	HP:0000823	Delayed puberty	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0001507	HP:0008897	Postnatal growth retardation	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0001507	HP:0004324	Increased body weight	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0001507	HP:0008897	Postnatal growth retardation	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0004322	Short stature	2	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0000823	Delayed puberty	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0001507	HP:0004322	Short stature	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0001507	HP:0004325	Decreased body weight	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0001507	HP:0004322	Short stature	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0001507	HP:0004325	Decreased body weight	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001507	HP:0004325	Decreased body weight	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001507	HP:0004322	Short stature	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0004324	Increased body weight	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0004325	Decreased body weight	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001507	HP:0004325	Decreased body weight	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001507	HP:0000823	Delayed puberty	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0001507	HP:0004322	Short stature	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0001507	HP:0004322	Short stature	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0001507	HP:0008897	Postnatal growth retardation	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0001507	HP:0004322	Short stature	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0001507	HP:0004325	Decreased body weight	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0001507	HP:0004324	Increased body weight	2	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0001507	HP:0008897	Postnatal growth retardation	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0001507	HP:0008897	Postnatal growth retardation	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.		52
HP:0001507	HP:0004322	Short stature	2	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0001507	HP:0004322	Short stature	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0001507	HP:0008897	Postnatal growth retardation	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0001507	HP:0004325	Decreased body weight	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0001507	HP:0004322	Short stature	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0001507	HP:0004325	Decreased body weight	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0001507	HP:0004325	Decreased body weight	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0001507	HP:0004322	Short stature	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001507	HP:0004322	Short stature	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0001507	HP:0004324	Increased body weight	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001507	HP:0004325	Decreased body weight	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001507	HP:0004322	Short stature	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0001507	HP:0004324	Increased body weight	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		32
HP:0001507	HP:0004322	Short stature	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001507	HP:0004322	Short stature	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0001507	HP:0004322	Short stature	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040281 - Very frequent		5
HP:0001507	HP:0004322	Short stature	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001507	HP:0004322	Short stature	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent		28
HP:0001507	HP:0004322	Short stature	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.		28
HP:0001507	HP:0000823	Delayed puberty	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent		100
HP:0001507	HP:0000823	Delayed puberty	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0001507	HP:0004322	Short stature	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent		100
HP:0001507	HP:0004324	Increased body weight	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001507	HP:0004324	Increased body weight	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent		55
HP:0001507	HP:0004322	Short stature	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent		55
HP:0001507	HP:0004325	Decreased body weight	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001507	HP:0004322	Short stature	2	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	HP:0040282 - Frequent		55
HP:0001507	HP:0004322	Short stature	2	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.		55
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040281 - Very frequent		19
HP:0001507	HP:0004322	Short stature	2	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis			19
HP:0001507	HP:0004322	Short stature	2	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0001507	HP:0000823	Delayed puberty	2	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0001507	HP:0000098	Tall stature	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	HP:0040284 - Very rare		1
HP:0001507	HP:0004324	Increased body weight	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0001507	HP:0004325	Decreased body weight	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0001507	HP:0004325	Decreased body weight	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0001507	HP:0004325	Decreased body weight	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0001507	HP:0008897	Postnatal growth retardation	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional		241
HP:0001507	HP:0004325	Decreased body weight	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0001507	HP:0004322	Short stature	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0001507	HP:0004325	Decreased body weight	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0001507	HP:0004325	Decreased body weight	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0001507	HP:0004325	Decreased body weight	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0001507	HP:0004322	Short stature	2	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.		31
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0001507	HP:0004322	Short stature	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001507	HP:0004325	Decreased body weight	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001507	HP:0004322	Short stature	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0001507	HP:0004325	Decreased body weight	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0001507	HP:0004322	Short stature	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0001507	HP:0004322	Short stature	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0001507	HP:0004322	Short stature	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0001507	HP:0004322	Short stature	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0001507	HP:0004322	Short stature	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0001507	HP:0004322	Short stature	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0001507	HP:0004322	Short stature	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0001507	HP:0004324	Increased body weight	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0001507	HP:0004325	Decreased body weight	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0001507	HP:0004322	Short stature	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0001507	HP:0004322	Short stature	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0001507	HP:0004325	Decreased body weight	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0001507	HP:0004322	Short stature	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0001507	HP:0004325	Decreased body weight	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0001507	HP:0004324	Increased body weight	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0001507	HP:0004325	Decreased body weight	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0001507	HP:0004325	Decreased body weight	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0001507	HP:0004325	Decreased body weight	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0001507	HP:0004325	Decreased body weight	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.		1
HP:0001507	HP:0004325	Decreased body weight	2	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0001507	HP:0004322	Short stature	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0001507	HP:0008897	Postnatal growth retardation	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0001507	HP:0004324	Increased body weight	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001507	HP:0004325	Decreased body weight	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0001507	HP:0004322	Short stature	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0004325	Decreased body weight	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001507	HP:0008897	Postnatal growth retardation	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0001507	HP:0000098	Tall stature	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0000098	Tall stature	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001507	HP:0000823	Delayed puberty	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0000823	Delayed puberty	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0001507	HP:0004325	Decreased body weight	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001507	HP:0004325	Decreased body weight	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0004325	Decreased body weight	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001507	HP:0004325	Decreased body weight	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0001507	HP:0045081	Abnormality of body mass index	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0001507	HP:0004325	Decreased body weight	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001507	HP:0000098	Tall stature	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		162
HP:0001507	HP:0000098	Tall stature	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001507	HP:0000098	Tall stature	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		85
HP:0001507	HP:0000098	Tall stature	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0004322	Short stature	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0004325	Decreased body weight	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0000098	Tall stature	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		239
HP:0001507	HP:0000098	Tall stature	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0001507	HP:0000098	Tall stature	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001507	HP:0000098	Tall stature	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		253
HP:0001507	HP:0000098	Tall stature	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0001507	HP:0000098	Tall stature	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001507	HP:0004325	Decreased body weight	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0001507	HP:0004322	Short stature	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0001507	HP:0004322	Short stature	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004322	Short stature	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0004322	Short stature	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0001507	HP:0004322	Short stature	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0004325	Decreased body weight	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0001507	HP:0004322	Short stature	2	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040283 - Occasional		98
HP:0001507	HP:0004325	Decreased body weight	2	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma			98
HP:0001507	HP:0004322	Short stature	2	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		98
HP:0001507	HP:0004322	Short stature	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0001507	HP:0004322	Short stature	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0004324	Increased body weight	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0004325	Decreased body weight	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0045081	Abnormality of body mass index	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0004322	Short stature	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0004324	Increased body weight	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0001507	HP:0004322	Short stature	2	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		23
HP:0001507	HP:0004325	Decreased body weight	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0001507	HP:0004324	Increased body weight	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0001507	HP:0045081	Abnormality of body mass index	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0001507	HP:0004324	Increased body weight	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0001507	HP:0004325	Decreased body weight	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0001507	HP:0000098	Tall stature	2	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001507	HP:0004322	Short stature	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001507	HP:0004325	Decreased body weight	2	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001507	HP:0000098	Tall stature	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0001507	HP:0004325	Decreased body weight	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0001507	HP:0004325	Decreased body weight	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001507	HP:0004325	Decreased body weight	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0001507	HP:0004322	Short stature	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0001507	HP:0004322	Short stature	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0001507	HP:0004322	Short stature	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0001507	HP:0004325	Decreased body weight	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0001507	HP:0004325	Decreased body weight	2	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial			149
HP:0001507	HP:0004325	Decreased body weight	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001507	HP:0004325	Decreased body weight	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001507	HP:0004322	Short stature	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001507	HP:0004322	Short stature	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001507	HP:0004322	Short stature	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0001507	HP:0004325	Decreased body weight	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001507	HP:0004325	Decreased body weight	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001507	HP:0004325	Decreased body weight	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0001507	HP:0004322	Short stature	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0001507	HP:0004322	Short stature	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001507	HP:0004324	Increased body weight	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001507	HP:0008897	Postnatal growth retardation	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0001507	HP:0004325	Decreased body weight	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0001507	HP:0004325	Decreased body weight	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001507	HP:0004325	Decreased body weight	2	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0001507	HP:0004325	Decreased body weight	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0001507	HP:0004322	Short stature	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0001507	HP:0004325	Decreased body weight	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0001507	HP:0004325	Decreased body weight	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	.		45
HP:0001507	HP:0004322	Short stature	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0001507	HP:0004325	Decreased body weight	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0001507	HP:0004324	Increased body weight	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001507	HP:0004322	Short stature	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001507	HP:0004322	Short stature	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0001507	HP:0004324	Increased body weight	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001507	HP:0004322	Short stature	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001507	HP:0004324	Increased body weight	2	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0001507	HP:0004322	Short stature	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0001507	HP:0004325	Decreased body weight	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0001507	HP:0004325	Decreased body weight	2	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency			5
HP:0001507	HP:0004322	Short stature	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0001507	HP:0004322	Short stature	2	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		72
HP:0001507	HP:0004322	Short stature	2	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		44
HP:0001507	HP:0004322	Short stature	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0001507	HP:0004325	Decreased body weight	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0001507	HP:0004325	Decreased body weight	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0004325	Decreased body weight	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0001507	HP:0004325	Decreased body weight	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0004324	Increased body weight	2	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0001507	HP:0004322	Short stature	2	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0001507	HP:0004322	Short stature	2	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		37
HP:0001507	HP:0008897	Postnatal growth retardation	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0001507	HP:0008897	Postnatal growth retardation	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0001507	HP:0004322	Short stature	2	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		43
HP:0001507	HP:0004325	Decreased body weight	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0001507	HP:0004322	Short stature	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001507	HP:0004324	Increased body weight	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001507	HP:0000823	Delayed puberty	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004325	Decreased body weight	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0001507	HP:0100559	Lower limb asymmetry	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0004325	Decreased body weight	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0004322	Short stature	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0001507	HP:0004322	Short stature	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0001507	HP:0004325	Decreased body weight	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0001507	HP:0004322	Short stature	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0001507	HP:0004325	Decreased body weight	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0001507	HP:0004324	Increased body weight	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001507	HP:0004324	Increased body weight	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0001507	HP:0004325	Decreased body weight	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0001507	HP:0004322	Short stature	2	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.		911
HP:0001507	HP:0004324	Increased body weight	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001507	HP:0004325	Decreased body weight	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0001507	HP:0004325	Decreased body weight	2	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0001507	HP:0004322	Short stature	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0001507	HP:0004325	Decreased body weight	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001507	HP:0004322	Short stature	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0001507	HP:0004325	Decreased body weight	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001507	HP:0004322	Short stature	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0001507	HP:0000098	Tall stature	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001507	HP:0004325	Decreased body weight	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001507	HP:0004325	Decreased body weight	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001507	HP:0004325	Decreased body weight	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001507	HP:0004322	Short stature	2	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent		54
HP:0001507	HP:0000098	Tall stature	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001507	HP:0004325	Decreased body weight	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001507	HP:0004325	Decreased body weight	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001507	HP:0004325	Decreased body weight	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY			1
HP:0001507	HP:0004322	Short stature	2	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		6
HP:0001507	HP:0004324	Increased body weight	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0001507	HP:0004324	Increased body weight	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001507	HP:0004322	Short stature	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001507	HP:0004325	Decreased body weight	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001507	HP:0004325	Decreased body weight	2	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0001507	HP:0004322	Short stature	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0004322	Short stature	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0001507	HP:0004322	Short stature	2	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0001507	HP:0004322	Short stature	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0001507	HP:0004322	Short stature	2	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		27
HP:0001507	HP:0004322	Short stature	2	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0001507	HP:0004325	Decreased body weight	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0001507	HP:0004322	Short stature	2	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0001507	HP:0004322	Short stature	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0001507	HP:0004324	Increased body weight	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0001507	HP:0004324	Increased body weight	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0001507	HP:0004322	Short stature	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0001507	HP:0004322	Short stature	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001507	HP:0004322	Short stature	2	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0001507	HP:0004322	Short stature	2	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0001507	HP:0004324	Increased body weight	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0004322	Short stature	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		108
HP:0001507	HP:0004324	Increased body weight	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0001507	HP:0004324	Increased body weight	2	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11			108
HP:0001507	HP:0000098	Tall stature	2	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040282 - Frequent		108
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent		78
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001507	HP:0004322	Short stature	2	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent		78
HP:0001507	HP:0004322	Short stature	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001507	HP:0004325	Decreased body weight	2	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0001507	HP:0004325	Decreased body weight	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001507	HP:0004325	Decreased body weight	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0001507	HP:0004322	Short stature	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001507	HP:0004322	Short stature	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001507	HP:0004322	Short stature	2	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent		133
HP:0001507	HP:0004322	Short stature	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0001507	HP:0004324	Increased body weight	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0004322	Short stature	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0004322	Short stature	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	.		2
HP:0001507	HP:0004325	Decreased body weight	2	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0001507	HP:0000823	Delayed puberty	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0004324	Increased body weight	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0001507	HP:0004325	Decreased body weight	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0001507	HP:0004325	Decreased body weight	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0001507	HP:0000823	Delayed puberty	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional		7
HP:0001507	HP:0004322	Short stature	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.		7
HP:0001507	HP:0000823	Delayed puberty	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0004322	Short stature	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0001507	HP:0004325	Decreased body weight	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0008897	Postnatal growth retardation	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0001507	HP:0004325	Decreased body weight	2	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0001507	HP:0004325	Decreased body weight	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001507	HP:0004322	Short stature	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004322	Short stature	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004325	Decreased body weight	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001507	HP:0004322	Short stature	2	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001507	HP:0004322	Short stature	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001507	HP:0004322	Short stature	2	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004322	Short stature	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001507	HP:0004325	Decreased body weight	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001507	HP:0004322	Short stature	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0001507	HP:0004322	Short stature	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0001507	HP:0004322	Short stature	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0001507	HP:0004322	Short stature	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia	HP:0040281 - Very frequent		214
HP:0001507	HP:0004325	Decreased body weight	2	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy			214
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3			214
HP:0001507	HP:0100559	Lower limb asymmetry	2	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent		214
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	HP:0040283 - Occasional		214
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0004322	Short stature	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0004322	Short stature	2	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		4
HP:0001507	HP:0004322	Short stature	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0001507	HP:0008897	Postnatal growth retardation	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0001507	HP:0004325	Decreased body weight	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0001507	HP:0004322	Short stature	2	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		97
HP:0001507	HP:0004325	Decreased body weight	2	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0001507	HP:0004325	Decreased body weight	2	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor			97
HP:0001507	HP:0004325	Decreased body weight	2	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0001507	HP:0004322	Short stature	2	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		97
HP:0001507	HP:0004322	Short stature	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001507	HP:0004322	Short stature	2	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		132
HP:0001507	HP:0004322	Short stature	2	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.		132
HP:0001507	HP:0004322	Short stature	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001507	HP:0004325	Decreased body weight	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		26
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.		26
HP:0001507	HP:0004322	Short stature	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		41
HP:0001507	HP:0004324	Increased body weight	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0001507	HP:0004324	Increased body weight	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0001507	HP:0004324	Increased body weight	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0001507	HP:0004322	Short stature	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0001507	HP:0004322	Short stature	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0001507	HP:0004322	Short stature	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0001507	HP:0004325	Decreased body weight	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001507	HP:0004325	Decreased body weight	2	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis			107
HP:0001507	HP:0004324	Increased body weight	2	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0001507	HP:0004324	Increased body weight	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0001507	HP:0100559	Lower limb asymmetry	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0001507	HP:0100560	Upper limb asymmetry	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0001507	HP:0004322	Short stature	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0001507	HP:0004322	Short stature	2	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		39
HP:0001507	HP:0008897	Postnatal growth retardation	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0001507	HP:0000098	Tall stature	2	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0001507	HP:0004325	Decreased body weight	2	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0001507	HP:0004322	Short stature	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0001507	HP:0004325	Decreased body weight	2	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0004322	Short stature	2	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0001507	HP:0004322	Short stature	2	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0001507	HP:0004322	Short stature	2	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.		55
HP:0001507	HP:0004324	Increased body weight	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0001507	HP:0004322	Short stature	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0001507	HP:0004322	Short stature	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0001507	HP:0004325	Decreased body weight	2	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0001507	HP:0004325	Decreased body weight	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001507	HP:0004325	Decreased body weight	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001507	HP:0004322	Short stature	2	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional		19
HP:0001507	HP:0004322	Short stature	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001507	HP:0000098	Tall stature	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional		85
HP:0001507	HP:0004325	Decreased body weight	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0001507	HP:0000098	Tall stature	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0001507	HP:0004325	Decreased body weight	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0001507	HP:0004325	Decreased body weight	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0004322	Short stature	2	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0004325	Decreased body weight	2	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0001507	HP:0004322	Short stature	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0001507	HP:0004325	Decreased body weight	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001507	HP:0004322	Short stature	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0001507	HP:0004325	Decreased body weight	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0001507	HP:0004322	Short stature	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001507	HP:0004325	Decreased body weight	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001507	HP:0004325	Decreased body weight	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001507	HP:0004324	Increased body weight	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001507	HP:0004322	Short stature	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001507	HP:0004322	Short stature	2	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.		2
HP:0001507	HP:0004322	Short stature	2	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040283 - Occasional		278
HP:0001507	HP:0004324	Increased body weight	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0001507	HP:0004324	Increased body weight	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0001507	HP:0004324	Increased body weight	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0001507	HP:0004324	Increased body weight	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0001507	HP:0004322	Short stature	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0001507	HP:0004325	Decreased body weight	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001507	HP:0004325	Decreased body weight	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0001507	HP:0004322	Short stature	2	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0001507	HP:0100559	Lower limb asymmetry	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004324	Increased body weight	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent		25
HP:0001507	HP:0004322	Short stature	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001507	HP:0004322	Short stature	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent		25
HP:0001507	HP:0004325	Decreased body weight	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001507	HP:0004325	Decreased body weight	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001507	HP:0004322	Short stature	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001507	HP:0004325	Decreased body weight	2	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0001507	HP:0004324	Increased body weight	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0001507	HP:0004324	Increased body weight	2	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0001507	HP:0004322	Short stature	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0001507	HP:0004325	Decreased body weight	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0004322	Short stature	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004324	Increased body weight	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0004325	Decreased body weight	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001507	HP:0008897	Postnatal growth retardation	2	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0001507	HP:0004322	Short stature	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0001507	HP:0004325	Decreased body weight	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001507	HP:0004325	Decreased body weight	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001507	HP:0004324	Increased body weight	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional		23
HP:0001507	HP:0004325	Decreased body weight	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0001507	HP:0004322	Short stature	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0001507	HP:0004325	Decreased body weight	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0001507	HP:0000098	Tall stature	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0001507	HP:0000098	Tall stature	2	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0001507	HP:0004325	Decreased body weight	2	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0001507	HP:0004325	Decreased body weight	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001507	HP:0004325	Decreased body weight	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001507	HP:0001511	Intrauterine growth retardation	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001507	HP:0004325	Decreased body weight	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001507	HP:0004322	Short stature	2	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	.		8
HP:0001507	HP:0004322	Short stature	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0001507	HP:0001511	Intrauterine growth retardation	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0001507	HP:0004322	Short stature	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0001507	HP:0004322	Short stature	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0001507	HP:0004322	Short stature	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0004325	Decreased body weight	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0001507	HP:0004324	Increased body weight	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0001507	HP:0004324	Increased body weight	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001507	HP:0004322	Short stature	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0004324	Increased body weight	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001507	HP:0004325	Decreased body weight	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001507	HP:0004324	Increased body weight	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001507	HP:0004324	Increased body weight	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0001507	HP:0100559	Lower limb asymmetry	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001507	HP:0004322	Short stature	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0001507	HP:0000823	Delayed puberty	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0001507	HP:0004322	Short stature	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent		27
HP:0001507	HP:0004322	Short stature	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0004325	Decreased body weight	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001507	HP:0008897	Postnatal growth retardation	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0000823	Delayed puberty	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040282 - Frequent		2
HP:0001507	HP:0004325	Decreased body weight	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001507	HP:0004322	Short stature	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		63
HP:0001507	HP:0004322	Short stature	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent		104
HP:0001507	HP:0004325	Decreased body weight	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0001507	HP:0004325	Decreased body weight	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0001507	HP:0004325	Decreased body weight	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0001507	HP:0004325	Decreased body weight	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0001507	HP:0004325	Decreased body weight	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001507	HP:0004322	Short stature	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0001507	HP:0004322	Short stature	2	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		111
HP:0001507	HP:0004325	Decreased body weight	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001507	HP:0000823	Delayed puberty	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001507	HP:0000823	Delayed puberty	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0001507	HP:0001511	Intrauterine growth retardation	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001507	HP:0004322	Short stature	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0001507	HP:0004322	Short stature	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001507	HP:0004324	Increased body weight	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001507	HP:0004324	Increased body weight	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0004325	Decreased body weight	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0004325	Decreased body weight	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001507	HP:0004322	Short stature	2	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0001507	HP:0004325	Decreased body weight	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001507	HP:0004325	Decreased body weight	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0001507	HP:0008897	Postnatal growth retardation	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001507	HP:0004325	Decreased body weight	2	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0001507	HP:0004322	Short stature	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004324	Increased body weight	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001507	HP:0004325	Decreased body weight	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0001507	HP:0004325	Decreased body weight	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001507	HP:0004322	Short stature	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001507	HP:0004325	Decreased body weight	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001507	HP:0004325	Decreased body weight	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0001507	HP:0004324	Increased body weight	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0001507	HP:0004322	Short stature	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43	.		25
HP:0001507	HP:0004322	Short stature	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001507	HP:0008897	Postnatal growth retardation	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001507	HP:0004322	Short stature	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001507	HP:0004322	Short stature	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		60
HP:0001507	HP:0004324	Increased body weight	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0001507	HP:0000823	Delayed puberty	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent		10
HP:0001507	HP:0004324	Increased body weight	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0001507	HP:0000823	Delayed puberty	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		10
HP:0001507	HP:0004325	Decreased body weight	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0001507	HP:0000823	Delayed puberty	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		10
HP:0001507	HP:0004322	Short stature	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		10
HP:0001507	HP:0004325	Decreased body weight	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0001507	HP:0004322	Short stature	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0001507	HP:0004322	Short stature	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.		95
HP:0001507	HP:0004322	Short stature	2	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		95
HP:0001507	HP:0004322	Short stature	2	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		95
HP:0001507	HP:0004322	Short stature	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.		95
HP:0001507	HP:0004325	Decreased body weight	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0001507	HP:0004322	Short stature	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0001507	HP:0004322	Short stature	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001507	HP:0004322	Short stature	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001507	HP:0004322	Short stature	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0004322	Short stature	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001507	HP:0004322	Short stature	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0001507	HP:0004325	Decreased body weight	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0001507	HP:0004322	Short stature	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0001507	HP:0004325	Decreased body weight	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0001507	HP:0004322	Short stature	2	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		224
HP:0001507	HP:0004325	Decreased body weight	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0004322	Short stature	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0001507	HP:0004322	Short stature	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0001507	HP:0004325	Decreased body weight	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001507	HP:0004322	Short stature	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0001507	HP:0004322	Short stature	2	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		27
HP:0001507	HP:0031818	Abnormal waist to hip ratio	2	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			389
HP:0001507	HP:0000823	Delayed puberty	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0001507	HP:0000823	Delayed puberty	2	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent		389
HP:0001507	HP:0008897	Postnatal growth retardation	2	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0001507	HP:0004322	Short stature	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0001507	HP:0004322	Short stature	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001507	HP:0004322	Short stature	2	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.		12
HP:0001507	HP:0004325	Decreased body weight	2	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9			1
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.		4
HP:0001507	HP:0004322	Short stature	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent		4
HP:0001507	HP:0004324	Increased body weight	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0001507	HP:0004322	Short stature	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0001507	HP:0004322	Short stature	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		HP:0003593 - Infantile onset	98
HP:0001507	HP:0004322	Short stature	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent		13
HP:0001507	HP:0004322	Short stature	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0001507	HP:0004322	Short stature	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0001507	HP:0001511	Intrauterine growth retardation	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0001507	HP:0004322	Short stature	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0001507	HP:0000098	Tall stature	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0001507	HP:0004322	Short stature	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.		310
HP:0001507	HP:0004322	Short stature	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0001507	HP:0004325	Decreased body weight	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0001507	HP:0000823	Delayed puberty	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		177
HP:0001507	HP:0004325	Decreased body weight	2	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0001507	HP:0004325	Decreased body weight	2	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0001507	HP:0004322	Short stature	2	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0001507	HP:0004324	Increased body weight	2	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0001507	HP:0004324	Increased body weight	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0001507	HP:0000823	Delayed puberty	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		149
HP:0001507	HP:0004322	Short stature	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0001507	HP:0004325	Decreased body weight	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001507	HP:0004322	Short stature	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0001507	HP:0004325	Decreased body weight	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0001507	HP:0004322	Short stature	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0001507	HP:0004325	Decreased body weight	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0001507	HP:0001511	Intrauterine growth retardation	2	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001507	HP:0004322	Short stature	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		125
HP:0001507	HP:0004325	Decreased body weight	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001507	HP:0004322	Short stature	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0001507	HP:0004322	Short stature	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0004324	Increased body weight	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0001511	Intrauterine growth retardation	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0004322	Short stature	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0004324	Increased body weight	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0008897	Postnatal growth retardation	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0004322	Short stature	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001507	HP:0004322	Short stature	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0001507	HP:0004324	Increased body weight	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0001507	HP:0004322	Short stature	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0004322	Short stature	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0004325	Decreased body weight	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0004325	Decreased body weight	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001507	HP:0000823	Delayed puberty	2	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		45
HP:0001507	HP:0004325	Decreased body weight	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001507	HP:0001511	Intrauterine growth retardation	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001507	HP:0004325	Decreased body weight	2	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001507	HP:0004322	Short stature	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0001507	HP:0000098	Tall stature	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional		14
HP:0001507	HP:0004322	Short stature	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001507	HP:0004325	Decreased body weight	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001507	HP:0001511	Intrauterine growth retardation	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0001507	HP:0001511	Intrauterine growth retardation	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001507	HP:0004324	Increased body weight	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0001507	HP:0004325	Decreased body weight	2	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.		5
HP:0001507	HP:0004325	Decreased body weight	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0001507	HP:0004325	Decreased body weight	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0001507	HP:0004325	Decreased body weight	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0001507	HP:0004322	Short stature	2	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001507	HP:0004322	Short stature	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0001507	HP:0004322	Short stature	2	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent		17
HP:0001507	HP:0000823	Delayed puberty	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0004322	Short stature	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0001507	HP:0004324	Increased body weight	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0004322	Short stature	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0004324	Increased body weight	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001507	HP:0004322	Short stature	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0001507	HP:0004322	Short stature	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001507	HP:0000098	Tall stature	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0001507	HP:0000098	Tall stature	2	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0001507	HP:0004322	Short stature	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001507	HP:0004322	Short stature	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0001507	HP:0004325	Decreased body weight	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001507	HP:0004322	Short stature	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0001507	HP:0004325	Decreased body weight	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.		30
HP:0001507	HP:0004325	Decreased body weight	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0001507	HP:0004325	Decreased body weight	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0001507	HP:0000823	Delayed puberty	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent		31
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent		31
HP:0001507	HP:0004322	Short stature	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0001507	HP:0004322	Short stature	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0001507	HP:0004322	Short stature	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0001507	HP:0004322	Short stature	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0001507	HP:0004322	Short stature	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0004325	Decreased body weight	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0001507	HP:0004325	Decreased body weight	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0011620	Abnormality of abdominal situs	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0031853	Isomerism	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0031853	Isomerism	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.		39
HP:0001507	HP:0000823	Delayed puberty	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001507	HP:0004325	Decreased body weight	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001507	HP:0000823	Delayed puberty	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040283 - Occasional		83
HP:0001507	HP:0004322	Short stature	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent		83
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001507	HP:0004322	Short stature	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001507	HP:0004322	Short stature	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0001507	HP:0004325	Decreased body weight	2	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0001507	HP:0004324	Increased body weight	2	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0001507	HP:0004322	Short stature	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0001507	HP:0004324	Increased body weight	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0001507	HP:0000098	Tall stature	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0001507	HP:0004324	Increased body weight	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0001528	Hemihypertrophy	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0100556	Hemiatrophy	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0004325	Decreased body weight	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0004324	Increased body weight	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0001507	HP:0004325	Decreased body weight	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001507	HP:0004324	Increased body weight	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0001507	HP:0004325	Decreased body weight	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0001507	HP:0001511	Intrauterine growth retardation	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0004322	Short stature	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0004324	Increased body weight	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0004325	Decreased body weight	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0001507	HP:0000823	Delayed puberty	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0001507	HP:0004322	Short stature	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0001507	HP:0000823	Delayed puberty	2	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0001507	HP:0008929	Asymmetric short stature	3	CL E G H
HP:0001507	HP:0011408	Moderate intrauterine growth retardation	3	CL E G H
HP:0001507	HP:0025453	Delayed adrenarche	3	CL E G H
HP:0001507	HP:0031564	Bronchial isomerism	3	CL E G H
HP:0001507	HP:0031820	Decreased waist to hip ratio	3	CL E G H
HP:0001507	HP:0033171	Abnormal triceps skinfold thickness	3	CL E G H
HP:0001507	HP:0100554	Hemihypertrophy of upper limb	3	CL E G H
HP:0001507	HP:0100557	Hemiatrophy of lower limb	3	CL E G H
HP:0001507	HP:0100558	Hemiatrophy of upper limb	3	CL E G H
HP:0001507	HP:0001508	Failure to thrive	3	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0001507	HP:0001508	Failure to thrive	3	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.		143
HP:0001507	HP:0001508	Failure to thrive	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0001507	HP:0001508	Failure to thrive	3	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		130
HP:0001507	HP:0001508	Failure to thrive	3	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3	.		147
HP:0001507	HP:0001513	Obesity	3	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		826
HP:0001507	HP:0001508	Failure to thrive	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0001507	HP:0001518	Small for gestational age	3	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0001507	HP:0001518	Small for gestational age	3	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0001507	HP:0001513	Obesity	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0001507	HP:0025502	Overweight	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040282 - Frequent		111
HP:0001507	HP:0001508	Failure to thrive	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001507	HP:0001520	Large for gestational age	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0001507	HP:0031819	Increased waist to hip ratio	3	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		245
HP:0001507	HP:0001518	Small for gestational age	3	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0001507	HP:0001520	Large for gestational age	3	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0001507	HP:0001508	Failure to thrive	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0001507	HP:0001824	Weight loss	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0001507	HP:0001513	Obesity	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare		245
HP:0001507	HP:0001520	Large for gestational age	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0001507	HP:0025502	Overweight	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0001507	HP:0001508	Failure to thrive	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0001507	HP:0001518	Small for gestational age	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0001507	HP:0001520	Large for gestational age	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0001507	HP:0001508	Failure to thrive	3	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0001507	HP:0001824	Weight loss	3	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		135
HP:0001507	HP:0001508	Failure to thrive	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001507	HP:0001508	Failure to thrive	3	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0001507	HP:0001508	Failure to thrive	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0001507	HP:0001824	Weight loss	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0001507	HP:0001508	Failure to thrive	3	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0001507	HP:0001508	Failure to thrive	3	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		90
HP:0001507	HP:0001513	Obesity	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0001507	HP:0001518	Small for gestational age	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0001507	HP:0025502	Overweight	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0001507	HP:0003498	Disproportionate short stature	3	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0001507	HP:0003498	Disproportionate short stature	3	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0001507	HP:0003508	Proportionate short stature	3	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type	HP:0040281 - Very frequent		34
HP:0001507	HP:0003508	Proportionate short stature	3	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.		34
HP:0001507	HP:0001824	Weight loss	3	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0001507	HP:0001508	Failure to thrive	3	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0001508	Failure to thrive	3	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0001507	HP:0001508	Failure to thrive	3	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0001507	HP:0003498	Disproportionate short stature	3	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001507	HP:0001508	Failure to thrive	3	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0001507	HP:0001508	Failure to thrive	3	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.		68
HP:0001507	HP:0001533	Slender build	3	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001507	HP:0001508	Failure to thrive	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0001507	HP:0001824	Weight loss	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0001507	HP:0001508	Failure to thrive	3	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001507	HP:0001533	Slender build	3	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001507	HP:0001508	Failure to thrive	3	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0001507	HP:0001508	Failure to thrive	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0001507	HP:0001518	Small for gestational age	3	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0001507	HP:0001508	Failure to thrive	3	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0001507	HP:0003363	Abdominal situs inversus	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0001507	HP:0001508	Failure to thrive	3	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040283 - Occasional		49
HP:0001507	HP:0001508	Failure to thrive	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		75
HP:0001507	HP:0001508	Failure to thrive	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent		75
HP:0001507	HP:0001508	Failure to thrive	3	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.		75
HP:0001507	HP:0001518	Small for gestational age	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1			2
HP:0001507	HP:0003508	Proportionate short stature	3	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.		63
HP:0001507	HP:0003508	Proportionate short stature	3	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0003508	Proportionate short stature	3	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0001507	HP:0001508	Failure to thrive	3	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0001507	HP:0001508	Failure to thrive	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0001508	Failure to thrive	3	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0001507	HP:0001513	Obesity	3	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0001507	HP:0001508	Failure to thrive	3	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001507	HP:0025502	Overweight	3	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001507	HP:0001508	Failure to thrive	3	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001507	HP:0001508	Failure to thrive	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0001507	HP:0001513	Obesity	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0001507	HP:0001513	Obesity	3	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0001507	HP:0001513	Obesity	3	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.		5
HP:0001507	HP:0031819	Increased waist to hip ratio	3	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0001507	HP:0001513	Obesity	3	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.		1
HP:0001507	HP:0031819	Increased waist to hip ratio	3	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0001507	HP:0001508	Failure to thrive	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001507	HP:0001513	Obesity	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0001507	HP:0001513	Obesity	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0001507	HP:0001513	Obesity	3	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0001507	HP:0011407	Proportionate tall stature	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0001507	HP:0001508	Failure to thrive	3	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.		117
HP:0001507	HP:0003498	Disproportionate short stature	3	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0001507	HP:0001513	Obesity	3	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.		1
HP:0001507	HP:0031819	Increased waist to hip ratio	3	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0001507	HP:0001508	Failure to thrive	3	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0001507	HP:0001508	Failure to thrive	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0001507	HP:0001508	Failure to thrive	3	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040282 - Frequent		260
HP:0001507	HP:0001508	Failure to thrive	3	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.		31
HP:0001507	HP:0001508	Failure to thrive	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0001507	HP:0001508	Failure to thrive	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0001507	HP:0001508	Failure to thrive	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0001507	HP:0001513	Obesity	3	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		175
HP:0001507	HP:0001513	Obesity	3	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0001507	HP:0001513	Obesity	3	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0001507	HP:0011407	Proportionate tall stature	3	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		95
HP:0001507	HP:0001508	Failure to thrive	3	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040282 - Frequent		19
HP:0001507	HP:0001824	Weight loss	3	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040282 - Frequent		19
HP:0001507	HP:0001508	Failure to thrive	3	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.		62
HP:0001507	HP:0001508	Failure to thrive	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0001507	HP:0001508	Failure to thrive	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0001507	HP:0001513	Obesity	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0001507	HP:0001519	Disproportionate tall stature	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0001507	HP:0001824	Weight loss	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0001507	HP:0031819	Increased waist to hip ratio	3	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		12
HP:0001507	HP:0001513	Obesity	3	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0001507	HP:0001520	Large for gestational age	3	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0001507	HP:0001513	Obesity	3	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0001507	HP:0001520	Large for gestational age	3	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0001507	HP:0001508	Failure to thrive	3	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.		62
HP:0001507	HP:0001513	Obesity	3	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional		104
HP:0001507	HP:0001518	Small for gestational age	3	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent		104
HP:0001507	HP:0001508	Failure to thrive	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0001507	HP:0003508	Proportionate short stature	3	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0001507	HP:0001508	Failure to thrive	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0001507	HP:0001508	Failure to thrive	3	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0001507	HP:0001508	Failure to thrive	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0001507	HP:0001508	Failure to thrive	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0001518	Small for gestational age	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0001507	HP:0003498	Disproportionate short stature	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0001508	Failure to thrive	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0001507	HP:0001508	Failure to thrive	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040282 - Frequent		66
HP:0001507	HP:0001508	Failure to thrive	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0001507	HP:0001518	Small for gestational age	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0001507	HP:0001508	Failure to thrive	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0001507	HP:0003498	Disproportionate short stature	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001507	HP:0001508	Failure to thrive	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001507	HP:0001513	Obesity	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0001507	HP:0012569	Delayed menarche	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare		404
HP:0001507	HP:0001513	Obesity	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001507	HP:0001508	Failure to thrive	3	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		75
HP:0001507	HP:0001508	Failure to thrive	3	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		63
HP:0001507	HP:0001508	Failure to thrive	3	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0001507	HP:0003498	Disproportionate short stature	3	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001507	HP:0001824	Weight loss	3	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0001507	HP:0001508	Failure to thrive	3	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.		44
HP:0001507	HP:0001508	Failure to thrive	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001507	HP:0003508	Proportionate short stature	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0001507	HP:0001508	Failure to thrive	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		25
HP:0001507	HP:0001824	Weight loss	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		25
HP:0001507	HP:0001518	Small for gestational age	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent		2
HP:0001507	HP:0001520	Large for gestational age	3	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040283 - Occasional		176
HP:0001507	HP:0001508	Failure to thrive	3	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001507	HP:0001824	Weight loss	3	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001507	HP:0003782	Eunuchoid habitus	3	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.		65
HP:0001507	HP:0001513	Obesity	3	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0001507	HP:0001508	Failure to thrive	3	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0001507	HP:0001508	Failure to thrive	3	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0001507	HP:0003508	Proportionate short stature	3	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0001507	HP:0001508	Failure to thrive	3	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0001507	HP:0001508	Failure to thrive	3	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0001507	HP:0025502	Overweight	3	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		49
HP:0001507	HP:0025502	Overweight	3	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		48
HP:0001507	HP:0025502	Overweight	3	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		41
HP:0001507	HP:0025502	Overweight	3	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		18
HP:0001507	HP:0001513	Obesity	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0001507	HP:0001513	Obesity	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare		2
HP:0001507	HP:0001520	Large for gestational age	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0001507	HP:0025502	Overweight	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0001507	HP:0001508	Failure to thrive	3	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent		75
HP:0001507	HP:0001518	Small for gestational age	3	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare		125
HP:0001507	HP:0001508	Failure to thrive	3	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0001507	HP:0003498	Disproportionate short stature	3	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001507	HP:0001508	Failure to thrive	3	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	HP:0040283 - Occasional		179
HP:0001507	HP:0001508	Failure to thrive	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		147
HP:0001507	HP:0001513	Obesity	3	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		6
HP:0001507	HP:0001508	Failure to thrive	3	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent		219
HP:0001507	HP:0001513	Obesity	3	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0001507	HP:0001513	Obesity	3	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0001507	HP:0001513	Obesity	3	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		29
HP:0001507	HP:0001513	Obesity	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0001507	HP:0001513	Obesity	3	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0001507	HP:0001513	Obesity	3	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		29
HP:0001507	HP:0001513	Obesity	3	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0001507	HP:0001513	Obesity	3	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001507	HP:0001513	Obesity	3	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0001507	HP:0003498	Disproportionate short stature	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001507	HP:0003498	Disproportionate short stature	3	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001507	HP:0003508	Proportionate short stature	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0001513	Obesity	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0001507	HP:0001508	Failure to thrive	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0001507	HP:0001508	Failure to thrive	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0001507	HP:0001508	Failure to thrive	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		15
HP:0001507	HP:0001518	Small for gestational age	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		15
HP:0001507	HP:0001518	Small for gestational age	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001507	HP:0025502	Overweight	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001507	HP:0001508	Failure to thrive	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0001507	HP:0001508	Failure to thrive	3	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0001507	HP:0001508	Failure to thrive	3	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0001507	HP:0001824	Weight loss	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0001507	HP:0001508	Failure to thrive	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001507	HP:0001508	Failure to thrive	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001507	HP:0003498	Disproportionate short stature	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0001824	Weight loss	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		145
HP:0001507	HP:0001519	Disproportionate tall stature	3	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0001507	HP:0001508	Failure to thrive	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0001519	Disproportionate tall stature	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001507	HP:0001508	Failure to thrive	3	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional		3267
HP:0001507	HP:0001508	Failure to thrive	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0001507	HP:0001824	Weight loss	3	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		3267
HP:0001507	HP:0001513	Obesity	3	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0001507	HP:0003508	Proportionate short stature	3	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001507	HP:0001508	Failure to thrive	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0001507	HP:0001508	Failure to thrive	3	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0001507	HP:0001508	Failure to thrive	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0001507	HP:0001508	Failure to thrive	3	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0001507	HP:0001508	Failure to thrive	3	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0001507	HP:0001508	Failure to thrive	3	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0001507	HP:0001513	Obesity	3	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0001507	HP:0001519	Disproportionate tall stature	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0001507	HP:0001519	Disproportionate tall stature	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0001507	HP:0001508	Failure to thrive	3	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0001507	HP:0001824	Weight loss	3	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		192
HP:0001507	HP:0001508	Failure to thrive	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0001507	HP:0001824	Weight loss	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0001507	HP:0001508	Failure to thrive	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.		144
HP:0001507	HP:0001518	Small for gestational age	3	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0001507	HP:0001508	Failure to thrive	3	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.		32
HP:0001507	HP:0001824	Weight loss	3	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0001507	HP:0003508	Proportionate short stature	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0001507	HP:0001824	Weight loss	3	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0001507	HP:0001513	Obesity	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001507	HP:0001513	Obesity	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	HP:0040283 - Occasional		169
HP:0001507	HP:0001824	Weight loss	3	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent		169
HP:0001507	HP:0001508	Failure to thrive	3	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0001507	HP:0001508	Failure to thrive	3	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040281 - Very frequent		49
HP:0001507	HP:0001508	Failure to thrive	3	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.		49
HP:0001507	HP:0001518	Small for gestational age	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0001507	HP:0001518	Small for gestational age	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0001507	HP:0001824	Weight loss	3	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0001507	HP:0001508	Failure to thrive	3	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent		67
HP:0001507	HP:0001508	Failure to thrive	3	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001507	HP:0001508	Failure to thrive	3	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040281 - Very frequent		38
HP:0001507	HP:0003508	Proportionate short stature	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001507	HP:0003498	Disproportionate short stature	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001507	HP:0003498	Disproportionate short stature	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001507	HP:0003498	Disproportionate short stature	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001507	HP:0001518	Small for gestational age	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0001507	HP:0001508	Failure to thrive	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0001507	HP:0001508	Failure to thrive	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0001507	HP:0001513	Obesity	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0001507	HP:0001824	Weight loss	3	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040282 - Frequent		184
HP:0001507	HP:0001508	Failure to thrive	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001513	Obesity	3	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18	.		1
HP:0001507	HP:0001513	Obesity	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		114
HP:0001507	HP:0001513	Obesity	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0001507	HP:0001513	Obesity	3	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		114
HP:0001507	HP:0001513	Obesity	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		118
HP:0001507	HP:0001513	Obesity	3	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10	.		118
HP:0001507	HP:0001513	Obesity	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		71
HP:0001507	HP:0001513	Obesity	3	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12	.		71
HP:0001507	HP:0001513	Obesity	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		97
HP:0001507	HP:0001513	Obesity	3	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001507	HP:0001513	Obesity	3	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		97
HP:0001507	HP:0001513	Obesity	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		87
HP:0001507	HP:0001513	Obesity	3	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4	.		87
HP:0001507	HP:0001513	Obesity	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		25
HP:0001507	HP:0001513	Obesity	3	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0001507	HP:0001513	Obesity	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		66
HP:0001507	HP:0001513	Obesity	3	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0001507	HP:0001513	Obesity	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		119
HP:0001507	HP:0001513	Obesity	3	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0001507	HP:0001508	Failure to thrive	3	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0001507	HP:0001508	Failure to thrive	3	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0001824	Weight loss	3	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		18
HP:0001507	HP:0001824	Weight loss	3	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		1
HP:0001507	HP:0001824	Weight loss	3	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001824	Weight loss	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0001507	HP:0001508	Failure to thrive	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0001507	HP:0001513	Obesity	3	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0001513	Obesity	3	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		182
HP:0001507	HP:0003498	Disproportionate short stature	3	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0001507	HP:0001508	Failure to thrive	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001507	HP:0001520	Large for gestational age	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001507	HP:0001824	Weight loss	3	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.		75
HP:0001507	HP:0025502	Overweight	3	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.		75
HP:0001507	HP:0001513	Obesity	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare		75
HP:0001507	HP:0001520	Large for gestational age	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0001507	HP:0025502	Overweight	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0001507	HP:0001513	Obesity	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0001507	HP:0001518	Small for gestational age	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0001507	HP:0001518	Small for gestational age	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent		314
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent		314
HP:0001507	HP:0001508	Failure to thrive	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0001507	HP:0001824	Weight loss	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001507	HP:0003498	Disproportionate short stature	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001507	HP:0001824	Weight loss	3	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		385
HP:0001507	HP:0001824	Weight loss	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001507	HP:0001508	Failure to thrive	3	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome	HP:0040282 - Frequent		385
HP:0001507	HP:0003498	Disproportionate short stature	3	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type			90
HP:0001507	HP:0003498	Disproportionate short stature	3	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0001507	HP:0001508	Failure to thrive	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0001513	Obesity	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0001507	HP:0200053	Hemihypotrophy of lower limb	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001507	HP:0001508	Failure to thrive	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001507	HP:0001513	Obesity	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0001507	HP:0003508	Proportionate short stature	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0001507	HP:0001513	Obesity	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001507	HP:0001508	Failure to thrive	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001507	HP:0001520	Large for gestational age	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001507	HP:0001824	Weight loss	3	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		5769
HP:0001507	HP:0001824	Weight loss	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001507	HP:0001508	Failure to thrive	3	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0001507	HP:0001824	Weight loss	3	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		7642
HP:0001507	HP:0001824	Weight loss	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001507	HP:0001508	Failure to thrive	3	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0001507	HP:0001824	Weight loss	3	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7642
HP:0001507	HP:0001508	Failure to thrive	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent		7
HP:0001507	HP:0003498	Disproportionate short stature	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0003508	Proportionate short stature	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0001824	Weight loss	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001507	HP:0001508	Failure to thrive	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0001507	HP:0011407	Proportionate tall stature	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0001507	HP:0001508	Failure to thrive	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001507	HP:0001508	Failure to thrive	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0001507	HP:0001518	Small for gestational age	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0001507	HP:0001508	Failure to thrive	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent		109
HP:0001507	HP:0001824	Weight loss	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional		109
HP:0001507	HP:0001824	Weight loss	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0001507	HP:0001508	Failure to thrive	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001507	HP:0001824	Weight loss	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.		4
HP:0001507	HP:0001508	Failure to thrive	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent		29
HP:0001507	HP:0001513	Obesity	3	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		23
HP:0001507	HP:0001508	Failure to thrive	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0001507	HP:0001508	Failure to thrive	3	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0001507	HP:0001508	Failure to thrive	3	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0001507	HP:0001513	Obesity	3	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		247
HP:0001507	HP:0001824	Weight loss	3	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		247
HP:0001507	HP:0001824	Weight loss	3	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.		247
HP:0001507	HP:0001508	Failure to thrive	3	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0001507	HP:0001824	Weight loss	3	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0001824	Weight loss	3	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0001507	HP:0001548	Overgrowth	3	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001507	HP:0001518	Small for gestational age	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001507	HP:0003508	Proportionate short stature	3	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0001507	HP:0001508	Failure to thrive	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001513	Obesity	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0003498	Disproportionate short stature	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0003508	Proportionate short stature	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0003498	Disproportionate short stature	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001507	HP:0003508	Proportionate short stature	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001507	HP:0003508	Proportionate short stature	3	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0001507	HP:0001508	Failure to thrive	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0001507	HP:0001508	Failure to thrive	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001518	Small for gestational age	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001508	Failure to thrive	3	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0001507	HP:0001513	Obesity	3	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.		1
HP:0001507	HP:0031819	Increased waist to hip ratio	3	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0001507	HP:0001508	Failure to thrive	3	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		118
HP:0001507	HP:0001508	Failure to thrive	3	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional		118
HP:0001507	HP:0001508	Failure to thrive	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0001507	HP:0001508	Failure to thrive	3	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0001507	HP:0001508	Failure to thrive	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0001513	Obesity	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0001508	Failure to thrive	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0001507	HP:0011407	Proportionate tall stature	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0001507	HP:0001508	Failure to thrive	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0001507	HP:0001518	Small for gestational age	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0001507	HP:0001508	Failure to thrive	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0001507	HP:0011407	Proportionate tall stature	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0001507	HP:0001508	Failure to thrive	3	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0001507	HP:0001824	Weight loss	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0001507	HP:0001519	Disproportionate tall stature	3	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent		242
HP:0001507	HP:0001508	Failure to thrive	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	HP:0040283 - Occasional		242
HP:0001507	HP:0001519	Disproportionate tall stature	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		147
HP:0001507	HP:0001513	Obesity	3	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0001507	HP:0003363	Abdominal situs inversus	3	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001507	HP:0001518	Small for gestational age	3	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0001507	HP:0003498	Disproportionate short stature	3	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0001507	HP:0001824	Weight loss	3	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		1
HP:0001507	HP:0001824	Weight loss	3	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional		1
HP:0001507	HP:0001518	Small for gestational age	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.		7
HP:0001507	HP:0001824	Weight loss	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0001507	HP:0001824	Weight loss	3	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0001508	Failure to thrive	3	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0001507	HP:0001824	Weight loss	3	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0001507	HP:0001508	Failure to thrive	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0001507	HP:0001508	Failure to thrive	3	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.		18
HP:0001507	HP:0001508	Failure to thrive	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0001507	HP:0001508	Failure to thrive	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0001507	HP:0001508	Failure to thrive	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	HP:0040283 - Occasional		19
HP:0001507	HP:0001508	Failure to thrive	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0001507	HP:0001508	Failure to thrive	3	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.		9
HP:0001507	HP:0001508	Failure to thrive	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		9
HP:0001507	HP:0001508	Failure to thrive	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		6
HP:0001507	HP:0001508	Failure to thrive	3	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0001508	Failure to thrive	3	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001507	HP:0001508	Failure to thrive	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0001507	HP:0001518	Small for gestational age	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001507	HP:0001508	Failure to thrive	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0003508	Proportionate short stature	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0001507	HP:0001508	Failure to thrive	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0001507	HP:0003508	Proportionate short stature	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0001507	HP:0001508	Failure to thrive	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0001507	HP:0001824	Weight loss	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0001507	HP:0001513	Obesity	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001507	HP:0001824	Weight loss	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0001507	HP:0001513	Obesity	3	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		147
HP:0001507	HP:0001508	Failure to thrive	3	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		405
HP:0001507	HP:0001824	Weight loss	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0001507	HP:0011407	Proportionate tall stature	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0001507	HP:0001824	Weight loss	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0001507	HP:0011407	Proportionate tall stature	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0001507	HP:0001548	Overgrowth	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0001507	HP:0001518	Small for gestational age	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		114
HP:0001507	HP:0001824	Weight loss	3	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0001507	HP:0001824	Weight loss	3	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		289
HP:0001507	HP:0001824	Weight loss	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0001507	HP:0011407	Proportionate tall stature	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0001507	HP:0001824	Weight loss	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0001507	HP:0011407	Proportionate tall stature	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0001508	Failure to thrive	3	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0001507	HP:0001508	Failure to thrive	3	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0001508	Failure to thrive	3	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		200
HP:0001507	HP:0001508	Failure to thrive	3	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0001507	HP:0001508	Failure to thrive	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0001507	HP:0003508	Proportionate short stature	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0001507	HP:0001508	Failure to thrive	3	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0001507	HP:0001508	Failure to thrive	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045082	Decreased body mass index	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001508	Failure to thrive	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0045082	Decreased body mass index	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001513	Obesity	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare		25
HP:0001507	HP:0001520	Large for gestational age	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0001507	HP:0025502	Overweight	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0001507	HP:0001513	Obesity	3	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0001507	HP:0001508	Failure to thrive	3	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001507	HP:0001824	Weight loss	3	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0001507	HP:0001824	Weight loss	3	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0001507	HP:0001508	Failure to thrive	3	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0003508	Proportionate short stature	3	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0025515	Delayed thelarche	3	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0003498	Disproportionate short stature	3	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0001507	HP:0001824	Weight loss	3	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0001507	HP:0001513	Obesity	3	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0001507	HP:0001513	Obesity	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001513	Obesity	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0001507	HP:0001513	Obesity	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		342
HP:0001507	HP:0001513	Obesity	3	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.		342
HP:0001507	HP:0001518	Small for gestational age	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0003498	Disproportionate short stature	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0001513	Obesity	3	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		71
HP:0001507	HP:0001508	Failure to thrive	3	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		5
HP:0001507	HP:0003498	Disproportionate short stature	3	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0001507	HP:0001513	Obesity	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0001507	HP:0025502	Overweight	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21	.
HP:0001507	HP:0001513	Obesity	3	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001507	HP:0003363	Abdominal situs inversus	3	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001507	HP:0003363	Abdominal situs inversus	3	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.		17
HP:0001507	HP:0003363	Abdominal situs inversus	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001507	HP:0031854	Left Isomerism	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001507	HP:0001508	Failure to thrive	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001507	HP:0001508	Failure to thrive	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0001507	HP:0045082	Decreased body mass index	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0001507	HP:0001824	Weight loss	3	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0001507	HP:0001513	Obesity	3	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0001507	HP:0003782	Eunuchoid habitus	3	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		515
HP:0001507	HP:0001508	Failure to thrive	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		515
HP:0001507	HP:0025502	Overweight	3	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0001507	HP:0001824	Weight loss	3	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare		833
HP:0001507	HP:0001508	Failure to thrive	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0001508	Failure to thrive	3	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0001507	HP:0001508	Failure to thrive	3	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0001507	HP:0003508	Proportionate short stature	3	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits			1
HP:0001507	HP:0001519	Disproportionate tall stature	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0001507	HP:0003498	Disproportionate short stature	3	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0001507	HP:0003498	Disproportionate short stature	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001507	HP:0003498	Disproportionate short stature	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001507	HP:0001533	Slender build	3	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0001507	HP:0001508	Failure to thrive	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.		118
HP:0001507	HP:0001508	Failure to thrive	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		118
HP:0001507	HP:0001824	Weight loss	3	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0001507	HP:0031565	Abdominal situs ambiguus	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001507	HP:0031854	Left Isomerism	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001507	HP:0001508	Failure to thrive	3	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0001507	HP:0003508	Proportionate short stature	3	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001507	HP:0001508	Failure to thrive	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045082	Decreased body mass index	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001508	Failure to thrive	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001507	HP:0001508	Failure to thrive	3	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001507	HP:0001508	Failure to thrive	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0001507	HP:0001518	Small for gestational age	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0001507	HP:0001508	Failure to thrive	3	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001507	HP:0001508	Failure to thrive	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0001507	HP:0001518	Small for gestational age	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0001507	HP:0001508	Failure to thrive	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.		7
HP:0001507	HP:0003498	Disproportionate short stature	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001507	HP:0001513	Obesity	3	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		60
HP:0001507	HP:0001508	Failure to thrive	3	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0001507	HP:0001513	Obesity	3	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		44
HP:0001507	HP:0001513	Obesity	3	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		164
HP:0001507	HP:0001508	Failure to thrive	3	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0001507	HP:0001518	Small for gestational age	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001518	Small for gestational age	3	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0001507	HP:0001824	Weight loss	3	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001507	HP:0001513	Obesity	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001507	HP:0001513	Obesity	3	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0001507	HP:0001508	Failure to thrive	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0001507	HP:0003498	Disproportionate short stature	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0001508	Failure to thrive	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0003498	Disproportionate short stature	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0001508	Failure to thrive	3	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0001507	HP:0001508	Failure to thrive	3	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0001507	HP:0001508	Failure to thrive	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001507	HP:0001508	Failure to thrive	3	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001507	HP:0001518	Small for gestational age	3	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001507	HP:0001508	Failure to thrive	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0001507	HP:0001508	Failure to thrive	3	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0001507	HP:0001508	Failure to thrive	3	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0001507	HP:0001513	Obesity	3	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0001507	HP:0003498	Disproportionate short stature	3	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0003508	Proportionate short stature	3	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0001507	HP:0003498	Disproportionate short stature	3	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0001507	HP:0003498	Disproportionate short stature	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001507	HP:0003498	Disproportionate short stature	3	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0001507	HP:0001508	Failure to thrive	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0001507	HP:0003508	Proportionate short stature	3	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0001507	HP:0003508	Proportionate short stature	3	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0001507	HP:0001518	Small for gestational age	3	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0001507	HP:0003498	Disproportionate short stature	3	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001507	HP:0003498	Disproportionate short stature	3	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0001507	HP:0003508	Proportionate short stature	3	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0001507	HP:0001519	Disproportionate tall stature	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0001507	HP:0001518	Small for gestational age	3	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0001507	HP:0003498	Disproportionate short stature	3	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001507	HP:0003498	Disproportionate short stature	3	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent		284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001507	HP:0003508	Proportionate short stature	3	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001507	HP:0003508	Proportionate short stature	3	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001507	HP:0003498	Disproportionate short stature	3	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent		284
HP:0001507	HP:0001519	Disproportionate tall stature	3	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0001507	HP:0001508	Failure to thrive	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0001507	HP:0001824	Weight loss	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0001507	HP:0001508	Failure to thrive	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0001507	HP:0001824	Weight loss	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0001507	HP:0001508	Failure to thrive	3	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0001507	HP:0001533	Slender build	3	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0001507	HP:0001508	Failure to thrive	3	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0001507	HP:0001533	Slender build	3	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0001507	HP:0001508	Failure to thrive	3	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0001507	HP:0001533	Slender build	3	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0001507	HP:0001508	Failure to thrive	3	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0001507	HP:0003508	Proportionate short stature	3	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2			110
HP:0001507	HP:0003508	Proportionate short stature	3	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0001507	HP:0003498	Disproportionate short stature	3	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0001507	HP:0003508	Proportionate short stature	3	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0001507	HP:0003498	Disproportionate short stature	3	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional		89
HP:0001507	HP:0003498	Disproportionate short stature	3	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0001507	HP:0003498	Disproportionate short stature	3	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0001507	HP:0001508	Failure to thrive	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001507	HP:0001513	Obesity	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001507	HP:0001513	Obesity	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001507	HP:0001508	Failure to thrive	3	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0001507	HP:0001518	Small for gestational age	3	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001507	HP:0001518	Small for gestational age	3	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		5
HP:0001507	HP:0031418	Increased body mass index	3	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		5
HP:0001507	HP:0001508	Failure to thrive	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001507	HP:0001508	Failure to thrive	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0001507	HP:0001508	Failure to thrive	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001518	Small for gestational age	3	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0001507	HP:0001508	Failure to thrive	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001507	HP:0001508	Failure to thrive	3	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0001507	HP:0001508	Failure to thrive	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001507	HP:0001508	Failure to thrive	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0001507	HP:0003508	Proportionate short stature	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001507	HP:0001513	Obesity	3	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001507	HP:0001508	Failure to thrive	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0001507	HP:0001508	Failure to thrive	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001518	Small for gestational age	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001519	Disproportionate tall stature	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0003363	Abdominal situs inversus	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001507	HP:0001508	Failure to thrive	3	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0001507	HP:0001508	Failure to thrive	3	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001507	HP:0001508	Failure to thrive	3	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0001513	Obesity	3	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		156
HP:0001507	HP:0001518	Small for gestational age	3	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.		4
HP:0001507	HP:0003498	Disproportionate short stature	3	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0001508	Failure to thrive	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0001513	Obesity	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0001518	Small for gestational age	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0001508	Failure to thrive	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0001507	HP:0001513	Obesity	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0001507	HP:0001508	Failure to thrive	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0001507	HP:0001513	Obesity	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0001507	HP:0001518	Small for gestational age	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0003508	Proportionate short stature	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0001824	Weight loss	3	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		24
HP:0001507	HP:0003498	Disproportionate short stature	3	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0001507	HP:0001513	Obesity	3	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		158
HP:0001507	HP:0001508	Failure to thrive	3	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			15
HP:0001507	HP:0001508	Failure to thrive	3	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4			15
HP:0001507	HP:0001508	Failure to thrive	3	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis			17
HP:0001507	HP:0003498	Disproportionate short stature	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001507	HP:0003508	Proportionate short stature	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001507	HP:0001508	Failure to thrive	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	HP:0040283 - Occasional		12
HP:0001507	HP:0001508	Failure to thrive	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		57
HP:0001507	HP:0003498	Disproportionate short stature	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0001508	Failure to thrive	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001508	Failure to thrive	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0001518	Small for gestational age	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001519	Disproportionate tall stature	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0003363	Abdominal situs inversus	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001508	Failure to thrive	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0001507	HP:0001518	Small for gestational age	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0001507	HP:0001824	Weight loss	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0001507	HP:0001824	Weight loss	3	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0001507	HP:0001513	Obesity	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0001507	HP:0003508	Proportionate short stature	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0001507	HP:0001518	Small for gestational age	3	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0001507	HP:0001508	Failure to thrive	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0001824	Weight loss	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001507	HP:0001508	Failure to thrive	3	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0001507	HP:0001508	Failure to thrive	3	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare		178
HP:0001507	HP:0001824	Weight loss	3	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0001507	HP:0003508	Proportionate short stature	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001507	HP:0001513	Obesity	3	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0001507	HP:0003498	Disproportionate short stature	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0025502	Overweight	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0001508	Failure to thrive	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		273
HP:0001507	HP:0001824	Weight loss	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		273
HP:0001507	HP:0001508	Failure to thrive	3	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001507	HP:0001513	Obesity	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001507	HP:0001513	Obesity	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0001507	HP:0001824	Weight loss	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0001507	HP:0001518	Small for gestational age	3	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.		127
HP:0001507	HP:0001508	Failure to thrive	3	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional		2
HP:0001507	HP:0001518	Small for gestational age	3	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare		2
HP:0001507	HP:0001518	Small for gestational age	3	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare		24
HP:0001507	HP:0001508	Failure to thrive	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0001507	HP:0001508	Failure to thrive	3	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001507	HP:0001508	Failure to thrive	3	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001507	HP:0001508	Failure to thrive	3	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.		73
HP:0001507	HP:0001508	Failure to thrive	3	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent		73
HP:0001507	HP:0001508	Failure to thrive	3	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency			73
HP:0001507	HP:0001508	Failure to thrive	3	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional		53
HP:0001507	HP:0001508	Failure to thrive	3	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional		53
HP:0001507	HP:0001513	Obesity	3	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0001507	HP:0003782	Eunuchoid habitus	3	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0001507	HP:0001508	Failure to thrive	3	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.		73
HP:0001507	HP:0001824	Weight loss	3	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.		73
HP:0001507	HP:0001508	Failure to thrive	3	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0001507	HP:0001508	Failure to thrive	3	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0001507	HP:0001508	Failure to thrive	3	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0001507	HP:0001508	Failure to thrive	3	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0001507	HP:0001513	Obesity	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent		11
HP:0001507	HP:0001508	Failure to thrive	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0001507	HP:0001508	Failure to thrive	3	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0001518	Small for gestational age	3	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001507	HP:0001508	Failure to thrive	3	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001824	Weight loss	3	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0001507	HP:0001508	Failure to thrive	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0001507	HP:0001508	Failure to thrive	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.		94
HP:0001507	HP:0001508	Failure to thrive	3	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional		94
HP:0001507	HP:0001508	Failure to thrive	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.		94
HP:0001507	HP:0001824	Weight loss	3	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent		86
HP:0001507	HP:0001824	Weight loss	3	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0001507	HP:0001508	Failure to thrive	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045082	Decreased body mass index	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001513	Obesity	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001507	HP:0001508	Failure to thrive	3	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0001507	HP:0001508	Failure to thrive	3	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.		62
HP:0001507	HP:0001508	Failure to thrive	3	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0001507	HP:0003498	Disproportionate short stature	3	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0001507	HP:0003498	Disproportionate short stature	3	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0001507	HP:0003498	Disproportionate short stature	3	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0001507	HP:0003508	Proportionate short stature	3	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001513	Obesity	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001507	HP:0001508	Failure to thrive	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001507	HP:0001513	Obesity	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0001507	HP:0001518	Small for gestational age	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001507	HP:0001508	Failure to thrive	3	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0001507	HP:0001508	Failure to thrive	3	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.		9
HP:0001507	HP:0001508	Failure to thrive	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0001507	HP:0001508	Failure to thrive	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0001507	HP:0001508	Failure to thrive	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0001507	HP:0003498	Disproportionate short stature	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0003508	Proportionate short stature	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0001507	HP:0001508	Failure to thrive	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0003498	Disproportionate short stature	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0001508	Failure to thrive	3	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0001507	HP:0001513	Obesity	3	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0001507	HP:0001508	Failure to thrive	3	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.		47
HP:0001507	HP:0001513	Obesity	3	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0001507	HP:0001548	Overgrowth	3	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.		670
HP:0001507	HP:0001824	Weight loss	3	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		164
HP:0001507	HP:0001520	Large for gestational age	3	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0001507	HP:0001508	Failure to thrive	3	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0001508	Failure to thrive	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional		89
HP:0001507	HP:0001519	Disproportionate tall stature	3	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0001507	HP:0001518	Small for gestational age	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001507	HP:0001520	Large for gestational age	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001548	Overgrowth	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001507	HP:0001520	Large for gestational age	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001507	HP:0001548	Overgrowth	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare		1
HP:0001507	HP:0001513	Obesity	3	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0001507	HP:0003498	Disproportionate short stature	3	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0003508	Proportionate short stature	3	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0001508	Failure to thrive	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0001824	Weight loss	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001507	HP:0003508	Proportionate short stature	3	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss			3
HP:0001507	HP:0001513	Obesity	3	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001507	HP:0001508	Failure to thrive	3	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0001507	HP:0001533	Slender build	3	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0001507	HP:0001533	Slender build	3	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0001507	HP:0031854	Left Isomerism	3	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001507	HP:0001824	Weight loss	3	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0001507	HP:0001508	Failure to thrive	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0001508	Failure to thrive	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0001507	HP:0001518	Small for gestational age	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0001507	HP:0001508	Failure to thrive	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001507	HP:0001508	Failure to thrive	3	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0001507	HP:0012569	Delayed menarche	3	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional		94
HP:0001507	HP:0001508	Failure to thrive	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0001507	HP:0001520	Large for gestational age	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001507	HP:0001518	Small for gestational age	3	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0001507	HP:0003508	Proportionate short stature	3	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0001824	Weight loss	3	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0001507	HP:0001513	Obesity	3	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0001507	HP:0001548	Overgrowth	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001507	HP:0003508	Proportionate short stature	3	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare		44
HP:0001507	HP:0011407	Proportionate tall stature	3	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040281 - Very frequent		44
HP:0001507	HP:0001508	Failure to thrive	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.		79
HP:0001507	HP:0003508	Proportionate short stature	3	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0001507	HP:0001508	Failure to thrive	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		18
HP:0001507	HP:0001508	Failure to thrive	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.		55
HP:0001507	HP:0001508	Failure to thrive	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001507	HP:0001508	Failure to thrive	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent		38
HP:0001507	HP:0001508	Failure to thrive	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0001507	HP:0001508	Failure to thrive	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0001507	HP:0001513	Obesity	3	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0001507	HP:0001508	Failure to thrive	3	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0001507	HP:0001519	Disproportionate tall stature	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0001507	HP:0001508	Failure to thrive	3	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.		747
HP:0001507	HP:0001518	Small for gestational age	3	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001507	HP:0001513	Obesity	3	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0003782	Eunuchoid habitus	3	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		4
HP:0001507	HP:0003508	Proportionate short stature	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0001507	HP:0003498	Disproportionate short stature	3	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0001507	HP:0003508	Proportionate short stature	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0001507	HP:0001508	Failure to thrive	3	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040281 - Very frequent		65
HP:0001507	HP:0003498	Disproportionate short stature	3	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0003498	Disproportionate short stature	3	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0003508	Proportionate short stature	3	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0003498	Disproportionate short stature	3	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0001507	HP:0003498	Disproportionate short stature	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001507	HP:0001508	Failure to thrive	3	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0001507	HP:0003498	Disproportionate short stature	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0003498	Disproportionate short stature	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001507	HP:0001513	Obesity	3	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0003498	Disproportionate short stature	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0001508	Failure to thrive	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001507	HP:0001518	Small for gestational age	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent		134
HP:0001507	HP:0001508	Failure to thrive	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0001507	HP:0001518	Small for gestational age	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0001507	HP:0001508	Failure to thrive	3	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0001518	Small for gestational age	3	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0001507	HP:0001513	Obesity	3	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3			7
HP:0001507	HP:0001508	Failure to thrive	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0001507	HP:0001508	Failure to thrive	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0001507	HP:0003498	Disproportionate short stature	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0001508	Failure to thrive	3	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001507	HP:0001508	Failure to thrive	3	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0001507	HP:0001824	Weight loss	3	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		13
HP:0001507	HP:0001508	Failure to thrive	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0001507	HP:0001508	Failure to thrive	3	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0001507	HP:0001824	Weight loss	3	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		67
HP:0001507	HP:0001508	Failure to thrive	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0045082	Decreased body mass index	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0001520	Large for gestational age	3	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.		55
HP:0001507	HP:0001508	Failure to thrive	3	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0001507	HP:0001824	Weight loss	3	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		55
HP:0001507	HP:0001548	Overgrowth	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0001507	HP:0001508	Failure to thrive	3	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0001507	HP:0001548	Overgrowth	3	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional		45
HP:0001507	HP:0001508	Failure to thrive	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0001507	HP:0200053	Hemihypotrophy of lower limb	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0001507	HP:0001508	Failure to thrive	3	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.		257
HP:0001507	HP:0001824	Weight loss	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001513	Obesity	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001507	HP:0001508	Failure to thrive	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0001507	HP:0001513	Obesity	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent		223
HP:0001507	HP:0001508	Failure to thrive	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0001507	HP:0001520	Large for gestational age	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0001507	HP:0001548	Overgrowth	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040282 - Frequent		223
HP:0001507	HP:0001513	Obesity	3	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0001513	Obesity	3	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0001518	Small for gestational age	3	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001507	HP:0001824	Weight loss	3	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001507	HP:0001508	Failure to thrive	3	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.		67
HP:0001507	HP:0001824	Weight loss	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0001507	HP:0001508	Failure to thrive	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001507	HP:0001513	Obesity	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0001507	HP:0001508	Failure to thrive	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0001513	Obesity	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0001513	Obesity	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		107
HP:0001507	HP:0001518	Small for gestational age	3	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome	.		2
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0001507	HP:0031819	Increased waist to hip ratio	3	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		151
HP:0001507	HP:0001508	Failure to thrive	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001507	HP:0001513	Obesity	3	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.		151
HP:0001507	HP:0031819	Increased waist to hip ratio	3	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0001507	HP:0001508	Failure to thrive	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0001513	Obesity	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0001518	Small for gestational age	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0001508	Failure to thrive	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0001507	HP:0001513	Obesity	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0001507	HP:0001824	Weight loss	3	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0001507	HP:0001508	Failure to thrive	3	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent		170
HP:0001507	HP:0001824	Weight loss	3	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent		170
HP:0001507	HP:0001508	Failure to thrive	3	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital	.		170
HP:0001507	HP:0001518	Small for gestational age	3	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital	HP:0040283 - Occasional		170
HP:0001507	HP:0001824	Weight loss	3	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		170
HP:0001507	HP:0001508	Failure to thrive	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0001507	HP:0001508	Failure to thrive	3	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0001507	HP:0003508	Proportionate short stature	3	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001507	HP:0001824	Weight loss	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0001507	HP:0001824	Weight loss	3	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		77
HP:0001507	HP:0001508	Failure to thrive	3	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0001507	HP:0001824	Weight loss	3	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		12
HP:0001507	HP:0001508	Failure to thrive	3	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0001507	HP:0001518	Small for gestational age	3	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2	.		106
HP:0001507	HP:0001518	Small for gestational age	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0001507	HP:0001508	Failure to thrive	3	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0001507	HP:0001824	Weight loss	3	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0001507	HP:0001508	Failure to thrive	3	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0001507	HP:0001824	Weight loss	3	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0001507	HP:0001508	Failure to thrive	3	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		158
HP:0001507	HP:0001824	Weight loss	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001507	HP:0001508	Failure to thrive	3	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0001507	HP:0001824	Weight loss	3	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0001507	HP:0001508	Failure to thrive	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0001824	Weight loss	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0003508	Proportionate short stature	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0001507	HP:0001508	Failure to thrive	3	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0001507	HP:0001518	Small for gestational age	3	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0001507	HP:0001824	Weight loss	3	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0001507	HP:0001508	Failure to thrive	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0001507	HP:0001518	Small for gestational age	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0001507	HP:0001508	Failure to thrive	3	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		199
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0001507	HP:0001508	Failure to thrive	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0001518	Small for gestational age	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0001507	HP:0003508	Proportionate short stature	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0001507	HP:0003508	Proportionate short stature	3	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0001507	HP:0001508	Failure to thrive	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0001507	HP:0001508	Failure to thrive	3	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		55
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0001507	HP:0001508	Failure to thrive	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0001507	HP:0001513	Obesity	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0001507	HP:0003508	Proportionate short stature	3	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent		92
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001507	HP:0001548	Overgrowth	3	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0001507	HP:0003782	Eunuchoid habitus	3	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0001507	HP:0001508	Failure to thrive	3	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.		42
HP:0001507	HP:0001508	Failure to thrive	3	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent		42
HP:0001507	HP:0003508	Proportionate short stature	3	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type			209
HP:0001507	HP:0001508	Failure to thrive	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0001507	HP:0003498	Disproportionate short stature	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0003498	Disproportionate short stature	3	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001507	HP:0003508	Proportionate short stature	3	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis			209
HP:0001507	HP:0003508	Proportionate short stature	3	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type			137
HP:0001507	HP:0001508	Failure to thrive	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0001507	HP:0003498	Disproportionate short stature	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0003498	Disproportionate short stature	3	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001507	HP:0003508	Proportionate short stature	3	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis			137
HP:0001507	HP:0001824	Weight loss	3	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040281 - Very frequent		3
HP:0001507	HP:0001513	Obesity	3	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	HP:0040284 - Very rare		3
HP:0001507	HP:0001508	Failure to thrive	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0001507	HP:0001508	Failure to thrive	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0001507	HP:0001508	Failure to thrive	3	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0001507	HP:0001508	Failure to thrive	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001507	HP:0001508	Failure to thrive	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001507	HP:0003498	Disproportionate short stature	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0001507	HP:0003498	Disproportionate short stature	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0001513	Obesity	3	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		209
HP:0001507	HP:0001548	Overgrowth	3	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0001507	HP:0001824	Weight loss	3	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		159
HP:0001507	HP:0001508	Failure to thrive	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0001507	HP:0001508	Failure to thrive	3	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.		8
HP:0001507	HP:0001518	Small for gestational age	3	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0001507	HP:0003508	Proportionate short stature	3	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0001507	HP:0001508	Failure to thrive	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		56
HP:0001507	HP:0001548	Overgrowth	3	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.		16
HP:0001507	HP:0001824	Weight loss	3	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		15
HP:0001507	HP:0001518	Small for gestational age	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0001507	HP:0001824	Weight loss	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001507	HP:0001824	Weight loss	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001507	HP:0001824	Weight loss	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001507	HP:0001518	Small for gestational age	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.		410
HP:0001507	HP:0001824	Weight loss	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001507	HP:0001518	Small for gestational age	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0001507	HP:0001824	Weight loss	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001507	HP:0001518	Small for gestational age	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0001507	HP:0001824	Weight loss	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001507	HP:0001508	Failure to thrive	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001507	HP:0001824	Weight loss	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001507	HP:0001824	Weight loss	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001507	HP:0001824	Weight loss	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001507	HP:0001824	Weight loss	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001507	HP:0001508	Failure to thrive	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0001518	Small for gestational age	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001507	HP:0001533	Slender build	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications	.
HP:0001507	HP:0001824	Weight loss	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		114
HP:0001507	HP:0001548	Overgrowth	3	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0001507	HP:0003508	Proportionate short stature	3	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0001507	HP:0003508	Proportionate short stature	3	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0001507	HP:0001519	Disproportionate tall stature	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001507	HP:0012773	Reduced upper to lower segment ratio	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001507	HP:0001519	Disproportionate tall stature	3	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001507	HP:0001518	Small for gestational age	3	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0001507	HP:0001508	Failure to thrive	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0001507	HP:0003508	Proportionate short stature	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0001507	HP:0001519	Disproportionate tall stature	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040282 - Frequent		655
HP:0001507	HP:0001533	Slender build	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040281 - Very frequent		655
HP:0001507	HP:0001519	Disproportionate tall stature	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0001507	HP:0012774	Increased upper to lower segment ratio	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001507	HP:0001508	Failure to thrive	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0001507	HP:0001518	Small for gestational age	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0001507	HP:0001513	Obesity	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0001507	HP:0001508	Failure to thrive	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001507	HP:0001508	Failure to thrive	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001507	HP:0001508	Failure to thrive	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0001507	HP:0003508	Proportionate short stature	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0001507	HP:0012774	Increased upper to lower segment ratio	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0001507	HP:0001508	Failure to thrive	3	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0003782	Eunuchoid habitus	3	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0001513	Obesity	3	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0001507	HP:0001508	Failure to thrive	3	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0001507	HP:0001508	Failure to thrive	3	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0003782	Eunuchoid habitus	3	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		17
HP:0001507	HP:0001508	Failure to thrive	3	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0001507	HP:0001513	Obesity	3	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0001507	HP:0001508	Failure to thrive	3	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0001507	HP:0003782	Eunuchoid habitus	3	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		172
HP:0001507	HP:0001508	Failure to thrive	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0001508	Failure to thrive	3	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0003508	Proportionate short stature	3	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0001508	Failure to thrive	3	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		172
HP:0001507	HP:0001513	Obesity	3	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001507	HP:0001513	Obesity	3	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional		145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent		145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0001507	HP:0003508	Proportionate short stature	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001507	HP:0003498	Disproportionate short stature	3	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001507	HP:0001508	Failure to thrive	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0001518	Small for gestational age	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001507	HP:0001508	Failure to thrive	3	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0001507	HP:0001824	Weight loss	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0001507	HP:0001513	Obesity	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		68
HP:0001507	HP:0001520	Large for gestational age	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0011407	Proportionate tall stature	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001520	Large for gestational age	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0001507	HP:0001548	Overgrowth	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0001507	HP:0001508	Failure to thrive	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001507	HP:0001508	Failure to thrive	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0001518	Small for gestational age	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0001824	Weight loss	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0001507	HP:0001519	Disproportionate tall stature	3	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040284 - Very rare		13
HP:0001507	HP:0001508	Failure to thrive	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0001518	Small for gestational age	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001507	HP:0001824	Weight loss	3	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0001507	HP:0001508	Failure to thrive	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001507	HP:0001513	Obesity	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0001507	HP:0001508	Failure to thrive	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0001507	HP:0003498	Disproportionate short stature	3	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001507	HP:0003498	Disproportionate short stature	3	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001507	HP:0003498	Disproportionate short stature	3	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0001507	HP:0003498	Disproportionate short stature	3	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001507	HP:0003508	Proportionate short stature	3	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia			233
HP:0001507	HP:0003498	Disproportionate short stature	3	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0001507	HP:0001513	Obesity	3	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0001518	Small for gestational age	3	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		11
HP:0001507	HP:0031418	Increased body mass index	3	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		11
HP:0001507	HP:0001508	Failure to thrive	3	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent		30
HP:0001507	HP:0001513	Obesity	3	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0001507	HP:0003498	Disproportionate short stature	3	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0001507	HP:0001508	Failure to thrive	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001507	HP:0001508	Failure to thrive	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0001507	HP:0011407	Proportionate tall stature	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0001507	HP:0000839	Pituitary dwarfism	3	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0001508	Failure to thrive	3	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0001507	HP:0001508	Failure to thrive	3	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0001508	Failure to thrive	3	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0001507	HP:0003363	Abdominal situs inversus	3	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0001507	HP:0001508	Failure to thrive	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0001507	HP:0025502	Overweight	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0001507	HP:0001824	Weight loss	3	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		184
HP:0001507	HP:0001508	Failure to thrive	3	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0001507	HP:0001513	Obesity	3	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features	HP:0040283 - Occasional		184
HP:0001507	HP:0001508	Failure to thrive	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001507	HP:0001824	Weight loss	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0001507	HP:0001508	Failure to thrive	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0001507	HP:0001508	Failure to thrive	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0001507	HP:0001508	Failure to thrive	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0001507	HP:0001513	Obesity	3	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		26
HP:0001507	HP:0012569	Delayed menarche	3	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent		23
HP:0001507	HP:0001513	Obesity	3	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14			70
HP:0001507	HP:0001508	Failure to thrive	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0001507	HP:0001508	Failure to thrive	3	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0001507	HP:0001824	Weight loss	3	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0001507	HP:0001508	Failure to thrive	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0001507	HP:0001513	Obesity	3	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001507	HP:0003498	Disproportionate short stature	3	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001507	HP:0003508	Proportionate short stature	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0001507	HP:0003498	Disproportionate short stature	3	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001507	HP:0001518	Small for gestational age	3	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		109
HP:0001507	HP:0001508	Failure to thrive	3	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0001507	HP:0001508	Failure to thrive	3	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0001507	HP:0001508	Failure to thrive	3	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0001507	HP:0001508	Failure to thrive	3	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0001507	HP:0001513	Obesity	3	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0001507	HP:0001824	Weight loss	3	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0001507	HP:0001508	Failure to thrive	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0001507	HP:0001513	Obesity	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0001508	Failure to thrive	3	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0001507	HP:0001508	Failure to thrive	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		160
HP:0001507	HP:0001824	Weight loss	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0001507	HP:0001508	Failure to thrive	3	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0001507	HP:0001508	Failure to thrive	3	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0001507	HP:0001508	Failure to thrive	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0001507	HP:0001518	Small for gestational age	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0001507	HP:0001508	Failure to thrive	3	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency	HP:0040284 - Very rare
HP:0001507	HP:0003498	Disproportionate short stature	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0001507	HP:0001508	Failure to thrive	3	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0001507	HP:0001508	Failure to thrive	3	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0001507	HP:0001518	Small for gestational age	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0001507	HP:0001824	Weight loss	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare		83
HP:0001507	HP:0001513	Obesity	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0001507	HP:0001824	Weight loss	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0001507	HP:0001508	Failure to thrive	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0001507	HP:0001508	Failure to thrive	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0001507	HP:0001518	Small for gestational age	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0001507	HP:0001508	Failure to thrive	3	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.		86
HP:0001507	HP:0001824	Weight loss	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		86
HP:0001507	HP:0001508	Failure to thrive	3	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0001507	HP:0001824	Weight loss	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001507	HP:0001824	Weight loss	3	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001507	HP:0001508	Failure to thrive	3	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0001507	HP:0031819	Increased waist to hip ratio	3	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		237
HP:0001507	HP:0001518	Small for gestational age	3	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0001507	HP:0001508	Failure to thrive	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		237
HP:0001507	HP:0001824	Weight loss	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		237
HP:0001507	HP:0001513	Obesity	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare		237
HP:0001507	HP:0001520	Large for gestational age	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0001507	HP:0025502	Overweight	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0001507	HP:0001508	Failure to thrive	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0045082	Decreased body mass index	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0031565	Abdominal situs ambiguus	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001507	HP:0031855	Right isomerism	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001507	HP:0003498	Disproportionate short stature	3	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0001507	HP:0003498	Disproportionate short stature	3	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0003498	Disproportionate short stature	3	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0003498	Disproportionate short stature	3	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type			52
HP:0001507	HP:0003498	Disproportionate short stature	3	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0001507	HP:0001508	Failure to thrive	3	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0001507	HP:0001824	Weight loss	3	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		59
HP:0001507	HP:0001508	Failure to thrive	3	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001507	HP:0001824	Weight loss	3	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001507	HP:0001508	Failure to thrive	3	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001507	HP:0003508	Proportionate short stature	3	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0001507	HP:0000839	Pituitary dwarfism	3	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II	.		50
HP:0001507	HP:0003508	Proportionate short stature	3	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II			50
HP:0001507	HP:0000839	Pituitary dwarfism	3	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV	.		50
HP:0001507	HP:0001513	Obesity	3	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0003508	Proportionate short stature	3	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome			98
HP:0001507	HP:0003508	Proportionate short stature	3	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0001507	HP:0012569	Delayed menarche	3	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	.		98
HP:0001507	HP:0003508	Proportionate short stature	3	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0001507	HP:0001513	Obesity	3	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.		4
HP:0001507	HP:0031819	Increased waist to hip ratio	3	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0001507	HP:0001824	Weight loss	3	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0001507	HP:0001824	Weight loss	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0001507	HP:0001824	Weight loss	3	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		68
HP:0001507	HP:0001508	Failure to thrive	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0001507	HP:0001508	Failure to thrive	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001507	HP:0001513	Obesity	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001507	HP:0001508	Failure to thrive	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001507	HP:0001513	Obesity	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001507	HP:0001508	Failure to thrive	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0001507	HP:0001824	Weight loss	3	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		74
HP:0001507	HP:0001824	Weight loss	3	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		12
HP:0001507	HP:0001508	Failure to thrive	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0001507	HP:0001518	Small for gestational age	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0001507	HP:0003508	Proportionate short stature	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001507	HP:0001508	Failure to thrive	3	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001507	HP:0003498	Disproportionate short stature	3	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0001507	HP:0001508	Failure to thrive	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0003498	Disproportionate short stature	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0001508	Failure to thrive	3	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0000839	Pituitary dwarfism	3	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		173
HP:0001507	HP:0001508	Failure to thrive	3	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0001507	HP:0001508	Failure to thrive	3	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0001508	Failure to thrive	3	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0001507	HP:0001520	Large for gestational age	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0001507	HP:0001508	Failure to thrive	3	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0001507	HP:0001508	Failure to thrive	3	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0001507	HP:0001508	Failure to thrive	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0003508	Proportionate short stature	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0001507	HP:0001508	Failure to thrive	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0001518	Small for gestational age	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0003508	Proportionate short stature	3	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0001513	Obesity	3	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001507	HP:0001508	Failure to thrive	3	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		36
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0001507	HP:0001513	Obesity	3	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0001507	HP:0001513	Obesity	3	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0001507	HP:0001508	Failure to thrive	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0001507	HP:0001508	Failure to thrive	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001507	HP:0001508	Failure to thrive	3	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0001507	HP:0003498	Disproportionate short stature	3	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0001507	HP:0001508	Failure to thrive	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0001507	HP:0001824	Weight loss	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001507	HP:0003782	Eunuchoid habitus	3	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		15
HP:0001507	HP:0003782	Eunuchoid habitus	3	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		92
HP:0001507	HP:0003508	Proportionate short stature	3	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0001507	HP:0003508	Proportionate short stature	3	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0001507	HP:0001508	Failure to thrive	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0001513	Obesity	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0001824	Weight loss	3	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		73
HP:0001507	HP:0001548	Overgrowth	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001507	HP:0003517	Birth length greater than 97th percentile	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001507	HP:0001548	Overgrowth	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001507	HP:0003517	Birth length greater than 97th percentile	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001507	HP:0003498	Disproportionate short stature	3	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001507	HP:0003498	Disproportionate short stature	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001507	HP:0031819	Increased waist to hip ratio	3	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0001507	HP:0001508	Failure to thrive	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	.		12
HP:0001507	HP:0001548	Overgrowth	3	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001507	HP:0001508	Failure to thrive	3	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0001824	Weight loss	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0001507	HP:0001508	Failure to thrive	3	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0003498	Disproportionate short stature	3	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent		3
HP:0001507	HP:0003498	Disproportionate short stature	3	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0001507	HP:0001508	Failure to thrive	3	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0001507	HP:0001533	Slender build	3	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001507	HP:0001533	Slender build	3	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040282 - Frequent		30
HP:0001507	HP:0001508	Failure to thrive	3	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0001507	HP:0001508	Failure to thrive	3	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0001507	HP:0001518	Small for gestational age	3	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0001507	HP:0001518	Small for gestational age	3	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0001507	HP:0001508	Failure to thrive	3	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0001507	HP:0001508	Failure to thrive	3	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0001507	HP:0001508	Failure to thrive	3	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001507	HP:0003498	Disproportionate short stature	3	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0001507	HP:0001508	Failure to thrive	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0045082	Decreased body mass index	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001518	Small for gestational age	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0008883	Mild intrauterine growth retardation	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0001507	HP:0001508	Failure to thrive	3	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001507	HP:0001508	Failure to thrive	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001513	Obesity	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001513	Obesity	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001513	Obesity	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	HP:0040284 - Very rare
HP:0001507	HP:0001508	Failure to thrive	3	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0001507	HP:0001513	Obesity	3	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		36
HP:0001507	HP:0001518	Small for gestational age	3	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0001507	HP:0001508	Failure to thrive	3	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional		100
HP:0001507	HP:0001824	Weight loss	3	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		4
HP:0001507	HP:0001508	Failure to thrive	3	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0001507	HP:0001518	Small for gestational age	3	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		4
HP:0001507	HP:0001518	Small for gestational age	3	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		4
HP:0001507	HP:0001548	Overgrowth	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001507	HP:0001518	Small for gestational age	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0001507	HP:0001508	Failure to thrive	3	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0001548	Overgrowth	3	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001507	HP:0001508	Failure to thrive	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001507	HP:0001513	Obesity	3	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.		8
HP:0001507	HP:0001508	Failure to thrive	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001507	HP:0001824	Weight loss	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001507	HP:0001513	Obesity	3	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0001507	HP:0001513	Obesity	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0001508	Failure to thrive	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		41
HP:0001507	HP:0003508	Proportionate short stature	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0001507	HP:0001508	Failure to thrive	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0001507	HP:0001508	Failure to thrive	3	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0001508	Failure to thrive	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001507	HP:0001518	Small for gestational age	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0001507	HP:0001508	Failure to thrive	3	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0001508	Failure to thrive	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001507	HP:0001518	Small for gestational age	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0001507	HP:0001824	Weight loss	3	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		200
HP:0001507	HP:0001508	Failure to thrive	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		88
HP:0001507	HP:0001508	Failure to thrive	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001507	HP:0001508	Failure to thrive	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001507	HP:0001508	Failure to thrive	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0001507	HP:0003508	Proportionate short stature	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001507	HP:0001508	Failure to thrive	3	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.		100
HP:0001507	HP:0001508	Failure to thrive	3	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0001507	HP:0001513	Obesity	3	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0001507	HP:0001513	Obesity	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0001507	HP:0001513	Obesity	3	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0001507	HP:0003498	Disproportionate short stature	3	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0001507	HP:0003498	Disproportionate short stature	3	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0001507	HP:0001508	Failure to thrive	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0001507	HP:0001513	Obesity	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0001507	HP:0001513	Obesity	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0001507	HP:0001513	Obesity	3	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0001507	HP:0001513	Obesity	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001507	HP:0001519	Disproportionate tall stature	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0001507	HP:0001520	Large for gestational age	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0001507	HP:0001519	Disproportionate tall stature	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0001520	Large for gestational age	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0001533	Slender build	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0001548	Overgrowth	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent		16
HP:0001507	HP:0001508	Failure to thrive	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0001513	Obesity	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0000839	Pituitary dwarfism	3	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		21
HP:0001507	HP:0000839	Pituitary dwarfism	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		21
HP:0001507	HP:0025502	Overweight	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		21
HP:0001507	HP:0001513	Obesity	3	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0001507	HP:0001508	Failure to thrive	3	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0001513	Obesity	3	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0001507	HP:0001508	Failure to thrive	3	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0001507	HP:0001508	Failure to thrive	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0001507	HP:0045082	Decreased body mass index	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0001507	HP:0001824	Weight loss	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0001507	HP:0001513	Obesity	3	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		86
HP:0001507	HP:0003508	Proportionate short stature	3	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0001507	HP:0003508	Proportionate short stature	3	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0001507	HP:0001508	Failure to thrive	3	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0001507	HP:0001508	Failure to thrive	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0001513	Obesity	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0001508	Failure to thrive	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0001507	HP:0001824	Weight loss	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0001507	HP:0001824	Weight loss	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		4
HP:0001507	HP:0001824	Weight loss	3	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional		4
HP:0001507	HP:0001824	Weight loss	3	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0001824	Weight loss	3	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		4
HP:0001507	HP:0001824	Weight loss	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0001507	HP:0001824	Weight loss	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent		1
HP:0001507	HP:0001824	Weight loss	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0001824	Weight loss	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0001824	Weight loss	3	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0001507	HP:0001824	Weight loss	3	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0001824	Weight loss	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001507	HP:0001824	Weight loss	3	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040284 - Very rare		2
HP:0001507	HP:0001824	Weight loss	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent		2
HP:0001507	HP:0001824	Weight loss	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		2
HP:0001507	HP:0001824	Weight loss	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		2
HP:0001507	HP:0001513	Obesity	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		2
HP:0001507	HP:0001824	Weight loss	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0001507	HP:0001824	Weight loss	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0001507	HP:0001824	Weight loss	3	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent		148
HP:0001507	HP:0031819	Increased waist to hip ratio	3	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0001507	HP:0001508	Failure to thrive	3	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0001518	Small for gestational age	3	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0001507	HP:0001518	Small for gestational age	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		2
HP:0001507	HP:0001824	Weight loss	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0001507	HP:0001508	Failure to thrive	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0045082	Decreased body mass index	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0031819	Increased waist to hip ratio	3	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		161
HP:0001507	HP:0001518	Small for gestational age	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0001507	HP:0001520	Large for gestational age	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0001507	HP:0001513	Obesity	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare		161
HP:0001507	HP:0001520	Large for gestational age	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0001507	HP:0025502	Overweight	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0001507	HP:0031819	Increased waist to hip ratio	3	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		90
HP:0001507	HP:0031819	Increased waist to hip ratio	3	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		138
HP:0001507	HP:0001520	Large for gestational age	3	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	HP:0003623 - Neonatal onset	138
HP:0001507	HP:0001520	Large for gestational age	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0001507	HP:0001513	Obesity	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare		138
HP:0001507	HP:0001520	Large for gestational age	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0001507	HP:0025502	Overweight	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0001507	HP:0001508	Failure to thrive	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001507	HP:0001508	Failure to thrive	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001507	HP:0001548	Overgrowth	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0001507	HP:0001548	Overgrowth	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0001507	HP:0003508	Proportionate short stature	3	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0001507	HP:0001508	Failure to thrive	3	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.		23
HP:0001507	HP:0001508	Failure to thrive	3	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent		23
HP:0001507	HP:0001508	Failure to thrive	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001507	HP:0001519	Disproportionate tall stature	3	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0001507	HP:0001508	Failure to thrive	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001507	HP:0001508	Failure to thrive	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001507	HP:0001548	Overgrowth	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001507	HP:0001548	Overgrowth	3	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0001507	HP:0003498	Disproportionate short stature	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001507	HP:0001513	Obesity	3	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0003782	Eunuchoid habitus	3	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		8
HP:0001507	HP:0001513	Obesity	3	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional		5
HP:0001507	HP:0001508	Failure to thrive	3	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent		14
HP:0001507	HP:0001508	Failure to thrive	3	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.		14
HP:0001507	HP:0001518	Small for gestational age	3	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.		14
HP:0001507	HP:0001508	Failure to thrive	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001507	HP:0001508	Failure to thrive	3	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional		34
HP:0001507	HP:0001508	Failure to thrive	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0001507	HP:0001508	Failure to thrive	3	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent		26
HP:0001507	HP:0003508	Proportionate short stature	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001507	HP:0001508	Failure to thrive	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0001507	HP:0001513	Obesity	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001507	HP:0001548	Overgrowth	3	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0001507	HP:0003498	Disproportionate short stature	3	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0003508	Proportionate short stature	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001507	HP:0001824	Weight loss	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001507	HP:0001508	Failure to thrive	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0001507	HP:0001824	Weight loss	3	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0001507	HP:0045082	Decreased body mass index	3	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0001507	HP:0001824	Weight loss	3	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent		12
HP:0001507	HP:0001518	Small for gestational age	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0001507	HP:0001508	Failure to thrive	3	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0001507	HP:0001508	Failure to thrive	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0001507	HP:0001518	Small for gestational age	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0001507	HP:0001508	Failure to thrive	3	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0001508	Failure to thrive	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001507	HP:0001513	Obesity	3	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0001507	HP:0003508	Proportionate short stature	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0001507	HP:0001824	Weight loss	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001507	HP:0001508	Failure to thrive	3	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0001507	HP:0001824	Weight loss	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0001507	HP:0001824	Weight loss	3	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0001507	HP:0003498	Disproportionate short stature	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001507	HP:0003498	Disproportionate short stature	3	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0001507	HP:0001513	Obesity	3	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		148
HP:0001507	HP:0001508	Failure to thrive	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0003498	Disproportionate short stature	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0001513	Obesity	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		48
HP:0001507	HP:0001513	Obesity	3	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001507	HP:0001513	Obesity	3	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0001507	HP:0001513	Obesity	3	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0001507	HP:0001513	Obesity	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001513	Obesity	3	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.		1
HP:0001507	HP:0003498	Disproportionate short stature	3	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0001507	HP:0003498	Disproportionate short stature	3	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0001507	HP:0001513	Obesity	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0001513	Obesity	3	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0001507	HP:0001520	Large for gestational age	3	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0001507	HP:0003498	Disproportionate short stature	3	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2			65
HP:0001507	HP:0003498	Disproportionate short stature	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001507	HP:0001513	Obesity	3	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0001507	HP:0001513	Obesity	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001507	HP:0001518	Small for gestational age	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0001507	HP:0001513	Obesity	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001507	HP:0001548	Overgrowth	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0001507	HP:0001518	Small for gestational age	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0001507	HP:0001508	Failure to thrive	3	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0001507	HP:0001518	Small for gestational age	3	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		9
HP:0001507	HP:0001518	Small for gestational age	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		9
HP:0001507	HP:0001518	Small for gestational age	3	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent		9
HP:0001507	HP:0031819	Increased waist to hip ratio	3	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0001507	HP:0001513	Obesity	3	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0001507	HP:0001824	Weight loss	3	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		7
HP:0001507	HP:0001824	Weight loss	3	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		7
HP:0001507	HP:0001824	Weight loss	3	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.		7
HP:0001507	HP:0001508	Failure to thrive	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001507	HP:0001518	Small for gestational age	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001507	HP:0001508	Failure to thrive	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		3
HP:0001507	HP:0025502	Overweight	3	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement	.		12
HP:0001507	HP:0003498	Disproportionate short stature	3	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0001507	HP:0001508	Failure to thrive	3	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15	.		4
HP:0001507	HP:0001824	Weight loss	3	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0001824	Weight loss	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001507	HP:0001824	Weight loss	3	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0001507	HP:0001824	Weight loss	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		31
HP:0001507	HP:0001513	Obesity	3	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0001508	Failure to thrive	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001507	HP:0001508	Failure to thrive	3	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11			3
HP:0001507	HP:0001508	Failure to thrive	3	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0001507	HP:0001824	Weight loss	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001507	HP:0001508	Failure to thrive	3	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0001507	HP:0001824	Weight loss	3	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0001507	HP:0001508	Failure to thrive	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0001507	HP:0001508	Failure to thrive	3	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		48
HP:0001507	HP:0001508	Failure to thrive	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked			48
HP:0001507	HP:0001508	Failure to thrive	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional		48
HP:0001507	HP:0031819	Increased waist to hip ratio	3	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		2
HP:0001507	HP:0001824	Weight loss	3	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		2
HP:0001507	HP:0001508	Failure to thrive	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0001507	HP:0001508	Failure to thrive	3	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive			94
HP:0001507	HP:0001508	Failure to thrive	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent		94
HP:0001507	HP:0001513	Obesity	3	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		52
HP:0001507	HP:0001513	Obesity	3	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0001507	HP:0001513	Obesity	3	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		120
HP:0001507	HP:0001513	Obesity	3	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0001507	HP:0001513	Obesity	3	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0001507	HP:0003508	Proportionate short stature	3	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0001507	HP:0003498	Disproportionate short stature	3	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001507	HP:0003508	Proportionate short stature	3	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0001507	HP:0003498	Disproportionate short stature	3	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001507	HP:0001518	Small for gestational age	3	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0001507	HP:0001508	Failure to thrive	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		62
HP:0001507	HP:0001824	Weight loss	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		62
HP:0001507	HP:0001513	Obesity	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare		62
HP:0001507	HP:0001520	Large for gestational age	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0001507	HP:0025502	Overweight	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0001507	HP:0001508	Failure to thrive	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0001507	HP:0001508	Failure to thrive	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent		229
HP:0001507	HP:0001518	Small for gestational age	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0001507	HP:0001508	Failure to thrive	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001507	HP:0001508	Failure to thrive	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent		119
HP:0001507	HP:0001508	Failure to thrive	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001507	HP:0001513	Obesity	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0001507	HP:0001824	Weight loss	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0001507	HP:0001824	Weight loss	3	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001507	HP:0001518	Small for gestational age	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		99
HP:0001507	HP:0001508	Failure to thrive	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0001507	HP:0031819	Increased waist to hip ratio	3	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		5
HP:0001507	HP:0031819	Increased waist to hip ratio	3	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0001507	HP:0001508	Failure to thrive	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0001508	Failure to thrive	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0001507	HP:0001508	Failure to thrive	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0001507	HP:0001824	Weight loss	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0001507	HP:0001508	Failure to thrive	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0001507	HP:0001508	Failure to thrive	3	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	HP:0040283 - Occasional		8
HP:0001507	HP:0001508	Failure to thrive	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0001507	HP:0001824	Weight loss	3	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		57
HP:0001507	HP:0001824	Weight loss	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		57
HP:0001507	HP:0001824	Weight loss	3	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0001507	HP:0001824	Weight loss	3	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0001507	HP:0001508	Failure to thrive	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type			140
HP:0001507	HP:0001508	Failure to thrive	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0001507	HP:0001508	Failure to thrive	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0001513	Obesity	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0001824	Weight loss	3	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional		2
HP:0001507	HP:0001824	Weight loss	3	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0001507	HP:0001518	Small for gestational age	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0001507	HP:0001533	Slender build	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0001507	HP:0001508	Failure to thrive	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0001507	HP:0001518	Small for gestational age	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001507	HP:0001518	Small for gestational age	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0001507	HP:0001533	Slender build	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0001507	HP:0001508	Failure to thrive	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001507	HP:0001518	Small for gestational age	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001507	HP:0001508	Failure to thrive	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001507	HP:0003508	Proportionate short stature	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001507	HP:0001533	Slender build	3	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001507	HP:0001508	Failure to thrive	3	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		145
HP:0001507	HP:0001508	Failure to thrive	3	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0001507	HP:0001508	Failure to thrive	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001513	Obesity	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0001507	HP:0001508	Failure to thrive	3	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001507	HP:0001518	Small for gestational age	3	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001507	HP:0001520	Large for gestational age	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0001507	HP:0001520	Large for gestational age	3	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0001507	HP:0031819	Increased waist to hip ratio	3	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		127
HP:0001507	HP:0001520	Large for gestational age	3	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.		127
HP:0001507	HP:0001508	Failure to thrive	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0001507	HP:0001824	Weight loss	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0001507	HP:0001513	Obesity	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare		127
HP:0001507	HP:0001520	Large for gestational age	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0001507	HP:0025502	Overweight	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0001507	HP:0001508	Failure to thrive	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0001507	HP:0001518	Small for gestational age	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0001507	HP:0001513	Obesity	3	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		10
HP:0001507	HP:0001824	Weight loss	3	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		10
HP:0001507	HP:0001824	Weight loss	3	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	.		10
HP:0001507	HP:0001508	Failure to thrive	3	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0001507	HP:0001508	Failure to thrive	3	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0045082	Decreased body mass index	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0001507	HP:0001548	Overgrowth	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0001507	HP:0001548	Overgrowth	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0001507	HP:0003498	Disproportionate short stature	3	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001507	HP:0001508	Failure to thrive	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0001507	HP:0001508	Failure to thrive	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0001507	HP:0001513	Obesity	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0001507	HP:0001824	Weight loss	3	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		24
HP:0001507	HP:0003498	Disproportionate short stature	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0001508	Failure to thrive	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0001507	HP:0003498	Disproportionate short stature	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0001507	HP:0001513	Obesity	3	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001507	HP:0001513	Obesity	3	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0001507	HP:0003508	Proportionate short stature	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001507	HP:0001508	Failure to thrive	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001507	HP:0001824	Weight loss	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0001507	HP:0001508	Failure to thrive	3	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0001507	HP:0001824	Weight loss	3	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0001507	HP:0001518	Small for gestational age	3	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0001507	HP:0003498	Disproportionate short stature	3	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0001507	HP:0001508	Failure to thrive	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0001507	HP:0001508	Failure to thrive	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0001507	HP:0003782	Eunuchoid habitus	3	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		3
HP:0001507	HP:0003782	Eunuchoid habitus	3	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		14
HP:0001507	HP:0001824	Weight loss	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		327
HP:0001507	HP:0001513	Obesity	3	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0001507	HP:0001824	Weight loss	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001507	HP:0001513	Obesity	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare		78
HP:0001507	HP:0001520	Large for gestational age	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0001507	HP:0025502	Overweight	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0001507	HP:0001533	Slender build	3	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001507	HP:0001513	Obesity	3	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		42
HP:0001507	HP:0001508	Failure to thrive	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0001824	Weight loss	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0001507	HP:0001508	Failure to thrive	3	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0001507	HP:0003498	Disproportionate short stature	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0001508	Failure to thrive	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0001507	HP:0001520	Large for gestational age	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0001507	HP:0001548	Overgrowth	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040282 - Frequent		99
HP:0001507	HP:0001508	Failure to thrive	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0001507	HP:0001513	Obesity	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0001507	HP:0001508	Failure to thrive	3	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0001507	HP:0001508	Failure to thrive	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001507	HP:0001824	Weight loss	3	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		196
HP:0001507	HP:0001824	Weight loss	3	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		196
HP:0001507	HP:0001548	Overgrowth	3	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0001507	HP:0001508	Failure to thrive	3	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0001507	HP:0001824	Weight loss	3	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent		100
HP:0001507	HP:0001824	Weight loss	3	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040281 - Very frequent		45
HP:0001507	HP:0001508	Failure to thrive	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0001507	HP:0001508	Failure to thrive	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0001507	HP:0001508	Failure to thrive	3	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		27
HP:0001507	HP:0001508	Failure to thrive	3	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		23
HP:0001507	HP:0001508	Failure to thrive	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0001507	HP:0001508	Failure to thrive	3	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		41
HP:0001507	HP:0001508	Failure to thrive	3	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		4
HP:0001507	HP:0003498	Disproportionate short stature	3	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001507	HP:0001508	Failure to thrive	3	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0001507	HP:0001508	Failure to thrive	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0001507	HP:0001508	Failure to thrive	3	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0001507	HP:0001508	Failure to thrive	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0001507	HP:0001508	Failure to thrive	3	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0001507	HP:0001508	Failure to thrive	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0001507	HP:0003508	Proportionate short stature	3	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0001507	HP:0001508	Failure to thrive	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001507	HP:0001513	Obesity	3	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001507	HP:0001519	Disproportionate tall stature	3	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0001507	HP:0001513	Obesity	3	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0001507	HP:0001513	Obesity	3	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0001507	HP:0001508	Failure to thrive	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52	.		2
HP:0001507	HP:0003498	Disproportionate short stature	3	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001507	HP:0003498	Disproportionate short stature	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001507	HP:0001508	Failure to thrive	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0003508	Proportionate short stature	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0003498	Disproportionate short stature	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0003508	Proportionate short stature	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0001508	Failure to thrive	3	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.		1
HP:0001507	HP:0001508	Failure to thrive	3	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0001513	Obesity	3	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	HP:0040280 - Obligate	HP:0011463 - Childhood onset	47
HP:0001507	HP:0001513	Obesity	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040280 - Obligate		47
HP:0001507	HP:0001513	Obesity	3	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0001507	HP:0001513	Obesity	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040280 - Obligate		46
HP:0001507	HP:0001508	Failure to thrive	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001508	Failure to thrive	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0001518	Small for gestational age	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001519	Disproportionate tall stature	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0003363	Abdominal situs inversus	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001507	HP:0001508	Failure to thrive	3	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001507	HP:0000839	Pituitary dwarfism	3	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.		51
HP:0001507	HP:0000839	Pituitary dwarfism	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		51
HP:0001507	HP:0025502	Overweight	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		51
HP:0001507	HP:0000839	Pituitary dwarfism	3	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		43
HP:0001507	HP:0000839	Pituitary dwarfism	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		43
HP:0001507	HP:0025502	Overweight	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		43
HP:0001507	HP:0000839	Pituitary dwarfism	3	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	.		43
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	.		43
HP:0001507	HP:0001508	Failure to thrive	3	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		43
HP:0001507	HP:0001824	Weight loss	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0001507	HP:0001508	Failure to thrive	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		88
HP:0001507	HP:0001508	Failure to thrive	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0001507	HP:0001508	Failure to thrive	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0001507	HP:0001824	Weight loss	3	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0001507	HP:0031819	Increased waist to hip ratio	3	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		35
HP:0001507	HP:0001513	Obesity	3	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001507	HP:0001508	Failure to thrive	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0001507	HP:0001508	Failure to thrive	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0001507	HP:0001508	Failure to thrive	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0001507	HP:0001518	Small for gestational age	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001507	HP:0001508	Failure to thrive	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0001507	HP:0001513	Obesity	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0001507	HP:0001513	Obesity	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0001507	HP:0001824	Weight loss	3	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001507	HP:0001508	Failure to thrive	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001507	HP:0001824	Weight loss	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		645
HP:0001507	HP:0012569	Delayed menarche	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0001507	HP:0001508	Failure to thrive	3	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0001507	HP:0001508	Failure to thrive	3	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001507	HP:0001518	Small for gestational age	3	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		8
HP:0001507	HP:0001519	Disproportionate tall stature	3	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional		6
HP:0001507	HP:0001508	Failure to thrive	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0001507	HP:0001824	Weight loss	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0001507	HP:0001508	Failure to thrive	3	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0001507	HP:0001513	Obesity	3	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		62
HP:0001507	HP:0001508	Failure to thrive	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0001507	HP:0001824	Weight loss	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0001507	HP:0001518	Small for gestational age	3	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		125
HP:0001507	HP:0001508	Failure to thrive	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent		191
HP:0001507	HP:0001508	Failure to thrive	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0001507	HP:0001508	Failure to thrive	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0001507	HP:0001824	Weight loss	3	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0001507	HP:0003508	Proportionate short stature	3	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0001507	HP:0001508	Failure to thrive	3	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0001507	HP:0001508	Failure to thrive	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.		4
HP:0001507	HP:0001508	Failure to thrive	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0001507	HP:0003508	Proportionate short stature	3	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001507	HP:0001513	Obesity	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0001513	Obesity	3	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001507	HP:0003498	Disproportionate short stature	3	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0001507	HP:0001824	Weight loss	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001507	HP:0001824	Weight loss	3	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0001507	HP:0001508	Failure to thrive	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0001507	HP:0001513	Obesity	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001507	HP:0001508	Failure to thrive	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0001513	Obesity	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0001513	Obesity	3	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0001507	HP:0001508	Failure to thrive	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0001507	HP:0001513	Obesity	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		63
HP:0001507	HP:0001518	Small for gestational age	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0001507	HP:0001508	Failure to thrive	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0001507	HP:0001513	Obesity	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		63
HP:0001507	HP:0001518	Small for gestational age	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0001507	HP:0001508	Failure to thrive	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0001507	HP:0001513	Obesity	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		63
HP:0001507	HP:0001518	Small for gestational age	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0001507	HP:0001508	Failure to thrive	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001507	HP:0001513	Obesity	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0001507	HP:0001513	Obesity	3	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		53
HP:0001507	HP:0001824	Weight loss	3	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		6
HP:0001507	HP:0001518	Small for gestational age	3	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare		5
HP:0001507	HP:0001513	Obesity	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0001507	HP:0001513	Obesity	3	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0001519	Disproportionate tall stature	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0001507	HP:0001508	Failure to thrive	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001507	HP:0001508	Failure to thrive	3	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001507	HP:0001508	Failure to thrive	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001507	HP:0001508	Failure to thrive	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001507	HP:0001508	Failure to thrive	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001507	HP:0001824	Weight loss	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0001507	HP:0003508	Proportionate short stature	3	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001507	HP:0031819	Increased waist to hip ratio	3	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0001507	HP:0001513	Obesity	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0001507	HP:0001508	Failure to thrive	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0001518	Small for gestational age	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001507	HP:0001508	Failure to thrive	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0001507	HP:0003508	Proportionate short stature	3	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0001507	HP:0003498	Disproportionate short stature	3	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0001507	HP:0003498	Disproportionate short stature	3	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type			32
HP:0001507	HP:0001824	Weight loss	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0001507	HP:0001508	Failure to thrive	3	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency			54
HP:0001507	HP:0001518	Small for gestational age	3	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0001507	HP:0001508	Failure to thrive	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0001507	HP:0003508	Proportionate short stature	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0001507	HP:0003498	Disproportionate short stature	3	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0001507	HP:0003508	Proportionate short stature	3	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0001507	HP:0001508	Failure to thrive	3	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		94
HP:0001507	HP:0001824	Weight loss	3	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		94
HP:0001507	HP:0001508	Failure to thrive	3	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.		94
HP:0001507	HP:0001513	Obesity	3	MC3R CL E G H	4159	6931	OMIM:602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9			2
HP:0001507	HP:0001513	Obesity	3	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0001507	HP:0001513	Obesity	3	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040280 - Obligate		54
HP:0001507	HP:0001508	Failure to thrive	3	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0001507	HP:0001508	Failure to thrive	3	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0001507	HP:0001508	Failure to thrive	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0001507	HP:0001508	Failure to thrive	3	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0001507	HP:0001508	Failure to thrive	3	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.		19
HP:0001507	HP:0001513	Obesity	3	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	HP:0040284 - Very rare		3
HP:0001507	HP:0001508	Failure to thrive	3	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001507	HP:0001508	Failure to thrive	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0001507	HP:0001518	Small for gestational age	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0001507	HP:0001824	Weight loss	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0001507	HP:0001513	Obesity	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0001507	HP:0001508	Failure to thrive	3	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040282 - Frequent		950
HP:0001507	HP:0001824	Weight loss	3	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0001507	HP:0001513	Obesity	3	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional		950
HP:0001507	HP:0001508	Failure to thrive	3	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0001507	HP:0001508	Failure to thrive	3	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0001507	HP:0001533	Slender build	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0001507	HP:0001508	Failure to thrive	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001507	HP:0001519	Disproportionate tall stature	3	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0001507	HP:0001519	Disproportionate tall stature	3	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0001507	HP:0001508	Failure to thrive	3	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0001507	HP:0001824	Weight loss	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0001507	HP:0001518	Small for gestational age	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001507	HP:0001520	Large for gestational age	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001548	Overgrowth	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001507	HP:0001520	Large for gestational age	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001507	HP:0001548	Overgrowth	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare		1
HP:0001507	HP:0001513	Obesity	3	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001507	HP:0001513	Obesity	3	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		13
HP:0001507	HP:0001513	Obesity	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0001507	HP:0001824	Weight loss	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0001507	HP:0011407	Proportionate tall stature	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0001507	HP:0011407	Proportionate tall stature	3	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		462
HP:0001507	HP:0001513	Obesity	3	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		75
HP:0001507	HP:0003498	Disproportionate short stature	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001507	HP:0003498	Disproportionate short stature	3	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive			45
HP:0001507	HP:0003498	Disproportionate short stature	3	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0003508	Proportionate short stature	3	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0001508	Failure to thrive	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001513	Obesity	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001519	Disproportionate tall stature	3	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001507	HP:0001508	Failure to thrive	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0001507	HP:0001508	Failure to thrive	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040282 - Frequent		39
HP:0001507	HP:0001513	Obesity	3	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0003508	Proportionate short stature	3	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0001507	HP:0001508	Failure to thrive	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001507	HP:0001508	Failure to thrive	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0045082	Decreased body mass index	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0001507	HP:0001508	Failure to thrive	3	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.		7
HP:0001507	HP:0003498	Disproportionate short stature	3	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0001507	HP:0001513	Obesity	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		69
HP:0001507	HP:0001513	Obesity	3	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.		69
HP:0001507	HP:0001508	Failure to thrive	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001507	HP:0001508	Failure to thrive	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0001513	Obesity	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0001508	Failure to thrive	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		127
HP:0001507	HP:0001513	Obesity	3	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0001507	HP:0001824	Weight loss	3	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1819
HP:0001507	HP:0001824	Weight loss	3	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		131
HP:0001507	HP:0001824	Weight loss	3	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001507	HP:0001513	Obesity	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0001513	Obesity	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0001508	Failure to thrive	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0001507	HP:0001508	Failure to thrive	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0001507	HP:0001508	Failure to thrive	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0001507	HP:0001508	Failure to thrive	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0001507	HP:0001508	Failure to thrive	3	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent		50
HP:0001507	HP:0003498	Disproportionate short stature	3	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.		52
HP:0001507	HP:0003498	Disproportionate short stature	3	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent		52
HP:0001507	HP:0003498	Disproportionate short stature	3	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent		52
HP:0001507	HP:0003498	Disproportionate short stature	3	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0001508	Failure to thrive	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001507	HP:0001508	Failure to thrive	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.		1
HP:0001507	HP:0001513	Obesity	3	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		1
HP:0001507	HP:0001508	Failure to thrive	3	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0001507	HP:0001508	Failure to thrive	3	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.		51
HP:0001507	HP:0001508	Failure to thrive	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent		51
HP:0001507	HP:0001824	Weight loss	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		97
HP:0001507	HP:0001824	Weight loss	3	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0001507	HP:0001824	Weight loss	3	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0001507	HP:0001508	Failure to thrive	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0001507	HP:0001508	Failure to thrive	3	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		26
HP:0001507	HP:0001824	Weight loss	3	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		26
HP:0001507	HP:0001513	Obesity	3	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18			1
HP:0001507	HP:0001508	Failure to thrive	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0001507	HP:0001508	Failure to thrive	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001507	HP:0001508	Failure to thrive	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0001507	HP:0001518	Small for gestational age	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.		60
HP:0001507	HP:0001508	Failure to thrive	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0001507	HP:0001508	Failure to thrive	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001507	HP:0001508	Failure to thrive	3	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.		12
HP:0001507	HP:0001508	Failure to thrive	3	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0001824	Weight loss	3	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2162
HP:0001507	HP:0001824	Weight loss	3	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2232
HP:0001507	HP:0001508	Failure to thrive	3	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0001507	HP:0001824	Weight loss	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		12
HP:0001507	HP:0001513	Obesity	3	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0001507	HP:0001508	Failure to thrive	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0001507	HP:0001508	Failure to thrive	3	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0001507	HP:0003517	Birth length greater than 97th percentile	3	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001507	HP:0001520	Large for gestational age	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001507	HP:0031819	Increased waist to hip ratio	3	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		4
HP:0001507	HP:0001508	Failure to thrive	3	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0001507	HP:0001518	Small for gestational age	3	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0001507	HP:0001520	Large for gestational age	3	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0001507	HP:0001520	Large for gestational age	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0001507	HP:0003498	Disproportionate short stature	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0001508	Failure to thrive	3	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.		217
HP:0001507	HP:0001508	Failure to thrive	3	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0001507	HP:0001508	Failure to thrive	3	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.		88
HP:0001507	HP:0001508	Failure to thrive	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0001507	HP:0001513	Obesity	3	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1			81
HP:0001507	HP:0001508	Failure to thrive	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0001507	HP:0001518	Small for gestational age	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001507	HP:0001508	Failure to thrive	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0001520	Large for gestational age	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001507	HP:0001508	Failure to thrive	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0001507	HP:0001518	Small for gestational age	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0001507	HP:0001508	Failure to thrive	3	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0001507	HP:0001508	Failure to thrive	3	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0001507	HP:0001508	Failure to thrive	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0001507	HP:0001508	Failure to thrive	3	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001507	HP:0001508	Failure to thrive	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0001507	HP:0001824	Weight loss	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0001507	HP:0001508	Failure to thrive	3	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0001507	HP:0001508	Failure to thrive	3	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001507	HP:0001508	Failure to thrive	3	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0001507	HP:0001508	Failure to thrive	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001507	HP:0001533	Slender build	3	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001507	HP:0003498	Disproportionate short stature	3	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001507	HP:0003498	Disproportionate short stature	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001507	HP:0001513	Obesity	3	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	HP:0040281 - Very frequent		13
HP:0001507	HP:0001824	Weight loss	3	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0001507	HP:0001508	Failure to thrive	3	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0001507	HP:0001508	Failure to thrive	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0001507	HP:0001508	Failure to thrive	3	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0001507	HP:0001508	Failure to thrive	3	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0001507	HP:0001508	Failure to thrive	3	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0001507	HP:0001508	Failure to thrive	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0001507	HP:0001824	Weight loss	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0001507	HP:0001824	Weight loss	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0001507	HP:0001508	Failure to thrive	3	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0001507	HP:0001518	Small for gestational age	3	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0001507	HP:0001508	Failure to thrive	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001507	HP:0001513	Obesity	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0001507	HP:0001508	Failure to thrive	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent
HP:0001507	HP:0001518	Small for gestational age	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent
HP:0001507	HP:0001518	Small for gestational age	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent
HP:0001507	HP:0001518	Small for gestational age	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0001507	HP:0001824	Weight loss	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0001507	HP:0001518	Small for gestational age	3	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		39
HP:0001507	HP:0001520	Large for gestational age	3	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.		3
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001507	HP:0001508	Failure to thrive	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16	.		34
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0001507	HP:0001824	Weight loss	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		39
HP:0001507	HP:0001508	Failure to thrive	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.		3
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0001507	HP:0003508	Proportionate short stature	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.		9
HP:0001507	HP:0001518	Small for gestational age	3	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0001507	HP:0001508	Failure to thrive	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0001507	HP:0001508	Failure to thrive	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0001507	HP:0001508	Failure to thrive	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0001507	HP:0001508	Failure to thrive	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0001507	HP:0001508	Failure to thrive	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.		27
HP:0001507	HP:0001533	Slender build	3	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001507	HP:0001533	Slender build	3	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040283 - Occasional		745
HP:0001507	HP:0001533	Slender build	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001507	HP:0001508	Failure to thrive	3	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		4
HP:0001507	HP:0001513	Obesity	3	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0001507	HP:0001508	Failure to thrive	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001519	Disproportionate tall stature	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0001507	HP:0003363	Abdominal situs inversus	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0001507	HP:0003508	Proportionate short stature	3	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001507	HP:0031819	Increased waist to hip ratio	3	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		32
HP:0001507	HP:0001513	Obesity	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare		32
HP:0001507	HP:0001520	Large for gestational age	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0001507	HP:0025502	Overweight	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0001507	HP:0001508	Failure to thrive	3	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0001507	HP:0001508	Failure to thrive	3	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.		5
HP:0001507	HP:0001508	Failure to thrive	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001507	HP:0001824	Weight loss	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0001507	HP:0011407	Proportionate tall stature	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0001507	HP:0001548	Overgrowth	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0001507	HP:0001513	Obesity	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0001507	HP:0001508	Failure to thrive	3	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001507	HP:0001508	Failure to thrive	3	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0001507	HP:0001508	Failure to thrive	3	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent		40
HP:0001507	HP:0001508	Failure to thrive	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0001507	HP:0001548	Overgrowth	3	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0001507	HP:0001508	Failure to thrive	3	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0001507	HP:0001508	Failure to thrive	3	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0001507	HP:0001508	Failure to thrive	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional		11
HP:0001507	HP:0001824	Weight loss	3	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0001507	HP:0001508	Failure to thrive	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0001507	HP:0001508	Failure to thrive	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0001507	HP:0001518	Small for gestational age	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0001507	HP:0001513	Obesity	3	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0001507	HP:0001508	Failure to thrive	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001507	HP:0001513	Obesity	3	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0001507	HP:0003508	Proportionate short stature	3	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0001507	HP:0001508	Failure to thrive	3	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		60
HP:0001507	HP:0001508	Failure to thrive	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0001507	HP:0001513	Obesity	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0001507	HP:0001513	Obesity	3	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0001519	Disproportionate tall stature	3	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0001508	Failure to thrive	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0001507	HP:0001518	Small for gestational age	3	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0003498	Disproportionate short stature	3	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0001507	HP:0001508	Failure to thrive	3	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0001507	HP:0001508	Failure to thrive	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0001507	HP:0001508	Failure to thrive	3	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		13
HP:0001507	HP:0001824	Weight loss	3	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		13
HP:0001507	HP:0001508	Failure to thrive	3	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	.		13
HP:0001507	HP:0001824	Weight loss	3	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.		187
HP:0001507	HP:0001824	Weight loss	3	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001507	HP:0001508	Failure to thrive	3	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0003363	Abdominal situs inversus	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0031565	Abdominal situs ambiguus	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0031855	Right isomerism	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0001508	Failure to thrive	3	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0001507	HP:0001508	Failure to thrive	3	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0001508	Failure to thrive	3	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0001507	HP:0001508	Failure to thrive	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0001533	Slender build	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0001507	HP:0001533	Slender build	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001507	HP:0001824	Weight loss	3	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		452
HP:0001507	HP:0001508	Failure to thrive	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0001507	HP:0001508	Failure to thrive	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0001507	HP:0001824	Weight loss	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0001513	Obesity	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0001513	Obesity	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		85
HP:0001507	HP:0001518	Small for gestational age	3	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.		241
HP:0001507	HP:0001824	Weight loss	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0001507	HP:0003498	Disproportionate short stature	3	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.		53
HP:0001507	HP:0003498	Disproportionate short stature	3	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent		53
HP:0001507	HP:0003508	Proportionate short stature	3	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities	.		53
HP:0001507	HP:0001508	Failure to thrive	3	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.		48
HP:0001507	HP:0001513	Obesity	3	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.		4
HP:0001507	HP:0031819	Increased waist to hip ratio	3	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0001507	HP:0001508	Failure to thrive	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001507	HP:0001518	Small for gestational age	3	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0001507	HP:0001513	Obesity	3	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		58
HP:0001507	HP:0001513	Obesity	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001507	HP:0001508	Failure to thrive	3	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.		109
HP:0001507	HP:0001548	Overgrowth	3	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0001507	HP:0001508	Failure to thrive	3	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001507	HP:0001513	Obesity	3	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0001507	HP:0001508	Failure to thrive	3	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0001507	HP:0001824	Weight loss	3	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		4
HP:0001507	HP:0001548	Overgrowth	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001507	HP:0001508	Failure to thrive	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0001507	HP:0001508	Failure to thrive	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0001507	HP:0001508	Failure to thrive	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001518	Small for gestational age	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001519	Disproportionate tall stature	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0001507	HP:0003363	Abdominal situs inversus	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001507	HP:0001533	Slender build	3	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0001507	HP:0001533	Slender build	3	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0001507	HP:0008883	Mild intrauterine growth retardation	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.		34
HP:0001507	HP:0001518	Small for gestational age	3	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001507	HP:0003498	Disproportionate short stature	3	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0001507	HP:0003508	Proportionate short stature	3	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001507	HP:0001508	Failure to thrive	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0001507	HP:0001518	Small for gestational age	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0001507	HP:0003782	Eunuchoid habitus	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		6
HP:0001507	HP:0001508	Failure to thrive	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0001507	HP:0001518	Small for gestational age	3	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0001507	HP:0001508	Failure to thrive	3	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0001507	HP:0001508	Failure to thrive	3	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0001507	HP:0001513	Obesity	3	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0001507	HP:0001508	Failure to thrive	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0001507	HP:0001518	Small for gestational age	3	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001507	HP:0001824	Weight loss	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001507	HP:0001508	Failure to thrive	3	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0001507	HP:0001508	Failure to thrive	3	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0001507	HP:0001824	Weight loss	3	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0001507	HP:0001508	Failure to thrive	3	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0001507	HP:0001508	Failure to thrive	3	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001507	HP:0003498	Disproportionate short stature	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001507	HP:0001518	Small for gestational age	3	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0003508	Proportionate short stature	3	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0001513	Obesity	3	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0001507	HP:0001508	Failure to thrive	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0001507	HP:0001513	Obesity	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		121
HP:0001507	HP:0001518	Small for gestational age	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0001507	HP:0001508	Failure to thrive	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0001507	HP:0001513	Obesity	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		121
HP:0001507	HP:0001518	Small for gestational age	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0001507	HP:0001508	Failure to thrive	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0001507	HP:0001513	Obesity	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		121
HP:0001507	HP:0001518	Small for gestational age	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0001507	HP:0001508	Failure to thrive	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0001507	HP:0001508	Failure to thrive	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0001507	HP:0001508	Failure to thrive	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0001507	HP:0001520	Large for gestational age	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001507	HP:0001520	Large for gestational age	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0001507	HP:0001513	Obesity	3	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		201
HP:0001507	HP:0001513	Obesity	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0001507	HP:0001508	Failure to thrive	3	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0001507	HP:0001508	Failure to thrive	3	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0001507	HP:0001508	Failure to thrive	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0001507	HP:0003508	Proportionate short stature	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0001507	HP:0001508	Failure to thrive	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0001507	HP:0001518	Small for gestational age	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0001507	HP:0001508	Failure to thrive	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0003508	Proportionate short stature	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0001507	HP:0001508	Failure to thrive	3	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0001507	HP:0001508	Failure to thrive	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0001507	HP:0003508	Proportionate short stature	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0001507	HP:0001508	Failure to thrive	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0001507	HP:0001508	Failure to thrive	3	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001507	HP:0001508	Failure to thrive	3	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0001507	HP:0001518	Small for gestational age	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001507	HP:0001508	Failure to thrive	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0001507	HP:0001508	Failure to thrive	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0001507	HP:0000839	Pituitary dwarfism	3	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		41
HP:0001507	HP:0001513	Obesity	3	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0001507	HP:0001513	Obesity	3	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		2
HP:0001507	HP:0003498	Disproportionate short stature	3	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0001507	HP:0001824	Weight loss	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		3
HP:0001507	HP:0001513	Obesity	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001507	HP:0001508	Failure to thrive	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent		24
HP:0001507	HP:0001824	Weight loss	3	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		1349
HP:0001507	HP:0001824	Weight loss	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001507	HP:0001824	Weight loss	3	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		192
HP:0001507	HP:0001518	Small for gestational age	3	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0001507	HP:0001824	Weight loss	3	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional		55
HP:0001507	HP:0001508	Failure to thrive	3	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.		26
HP:0001507	HP:0001508	Failure to thrive	3	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0001507	HP:0001508	Failure to thrive	3	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0001507	HP:0001508	Failure to thrive	3	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0001518	Small for gestational age	3	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001507	HP:0031819	Increased waist to hip ratio	3	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		55
HP:0001507	HP:0001513	Obesity	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare		55
HP:0001507	HP:0001520	Large for gestational age	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0001507	HP:0025502	Overweight	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0001507	HP:0001513	Obesity	3	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		194
HP:0001507	HP:0001513	Obesity	3	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0001507	HP:0001508	Failure to thrive	3	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0001518	Small for gestational age	3	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001507	HP:0001513	Obesity	3	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0001507	HP:0001508	Failure to thrive	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0001507	HP:0001508	Failure to thrive	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001507	HP:0001513	Obesity	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001507	HP:0003498	Disproportionate short stature	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0001507	HP:0001513	Obesity	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0001507	HP:0003498	Disproportionate short stature	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0001507	HP:0001824	Weight loss	3	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0001507	HP:0001508	Failure to thrive	3	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional		65
HP:0001507	HP:0001513	Obesity	3	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040280 - Obligate		65
HP:0001507	HP:0001513	Obesity	3	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.		65
HP:0001507	HP:0003498	Disproportionate short stature	3	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0001507	HP:0003498	Disproportionate short stature	3	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0001507	HP:0003508	Proportionate short stature	3	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0001507	HP:0001513	Obesity	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001507	HP:0001513	Obesity	3	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0001507	HP:0001513	Obesity	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001507	HP:0001513	Obesity	3	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0001507	HP:0003508	Proportionate short stature	3	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0001507	HP:0001513	Obesity	3	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		113
HP:0001507	HP:0003508	Proportionate short stature	3	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0001507	HP:0001513	Obesity	3	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0001507	HP:0001513	Obesity	3	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		116
HP:0001507	HP:0001513	Obesity	3	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		126
HP:0001507	HP:0001508	Failure to thrive	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		18
HP:0001507	HP:0001513	Obesity	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001507	HP:0001513	Obesity	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0001507	HP:0001548	Overgrowth	3	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0001507	HP:0001508	Failure to thrive	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0001507	HP:0001518	Small for gestational age	3	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		88
HP:0001507	HP:0001518	Small for gestational age	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0001507	HP:0001508	Failure to thrive	3	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional		98
HP:0001507	HP:0001508	Failure to thrive	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0001507	HP:0031819	Increased waist to hip ratio	3	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		30
HP:0001507	HP:0001508	Failure to thrive	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0001507	HP:0001824	Weight loss	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0001507	HP:0001513	Obesity	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare		30
HP:0001507	HP:0001520	Large for gestational age	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0001507	HP:0025502	Overweight	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0001507	HP:0001508	Failure to thrive	3	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.		30
HP:0001507	HP:0001508	Failure to thrive	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0001507	HP:0001508	Failure to thrive	3	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent
HP:0001507	HP:0001824	Weight loss	3	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0001507	HP:0001508	Failure to thrive	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001507	HP:0001518	Small for gestational age	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001507	HP:0001508	Failure to thrive	3	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0001507	HP:0001508	Failure to thrive	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0001507	HP:0001508	Failure to thrive	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0001507	HP:0001508	Failure to thrive	3	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0001507	HP:0012569	Delayed menarche	3	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0001507	HP:0001508	Failure to thrive	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0001507	HP:0001508	Failure to thrive	3	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0001507	HP:0001508	Failure to thrive	3	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0001507	HP:0001508	Failure to thrive	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0001507	HP:0001508	Failure to thrive	3	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0001507	HP:0001508	Failure to thrive	3	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.		66
HP:0001507	HP:0001508	Failure to thrive	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0001507	HP:0001508	Failure to thrive	3	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0001507	HP:0001508	Failure to thrive	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0001507	HP:0001508	Failure to thrive	3	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0001507	HP:0001508	Failure to thrive	3	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0001507	HP:0001508	Failure to thrive	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0001507	HP:0001508	Failure to thrive	3	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0001507	HP:0001508	Failure to thrive	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0001507	HP:0001508	Failure to thrive	3	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0001507	HP:0001508	Failure to thrive	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0001507	HP:0001508	Failure to thrive	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0001507	HP:0001508	Failure to thrive	3	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0001507	HP:0001508	Failure to thrive	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0001507	HP:0001508	Failure to thrive	3	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0001507	HP:0001508	Failure to thrive	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0001507	HP:0001508	Failure to thrive	3	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0001507	HP:0001508	Failure to thrive	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0001507	HP:0001508	Failure to thrive	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0001507	HP:0001508	Failure to thrive	3	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0001507	HP:0001508	Failure to thrive	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0001507	HP:0001508	Failure to thrive	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0003498	Disproportionate short stature	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0003508	Proportionate short stature	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0001508	Failure to thrive	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001507	HP:0001508	Failure to thrive	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001507	HP:0001508	Failure to thrive	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent		15
HP:0001507	HP:0003498	Disproportionate short stature	3	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0001507	HP:0001513	Obesity	3	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0001507	HP:0001513	Obesity	3	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0001507	HP:0001513	Obesity	3	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0001507	HP:0001508	Failure to thrive	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0001507	HP:0001513	Obesity	3	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0001507	HP:0001508	Failure to thrive	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0001507	HP:0001508	Failure to thrive	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0001507	HP:0001508	Failure to thrive	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		86
HP:0001507	HP:0001518	Small for gestational age	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		86
HP:0001507	HP:0001508	Failure to thrive	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0001507	HP:0003508	Proportionate short stature	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001507	HP:0001520	Large for gestational age	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0001507	HP:0001548	Overgrowth	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0001507	HP:0003517	Birth length greater than 97th percentile	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0001507	HP:0001513	Obesity	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0001508	Failure to thrive	3	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001507	HP:0001508	Failure to thrive	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0001519	Disproportionate tall stature	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0003363	Abdominal situs inversus	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0001520	Large for gestational age	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0001507	HP:0001520	Large for gestational age	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001507	HP:0001508	Failure to thrive	3	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0001507	HP:0001508	Failure to thrive	3	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0001507	HP:0001513	Obesity	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0001507	HP:0001520	Large for gestational age	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0001507	HP:0001518	Small for gestational age	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0001507	HP:0001548	Overgrowth	3	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.	HP:0003577 - Congenital onset	162
HP:0001507	HP:0001508	Failure to thrive	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0001507	HP:0001548	Overgrowth	3	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040280 - Obligate		162
HP:0001507	HP:0001824	Weight loss	3	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		162
HP:0001507	HP:0001508	Failure to thrive	3	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent		162
HP:0001507	HP:0001548	Overgrowth	3	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0001507	HP:0001513	Obesity	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0001507	HP:0001508	Failure to thrive	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		43
HP:0001507	HP:0001518	Small for gestational age	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0001507	HP:0001824	Weight loss	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0001507	HP:0003508	Proportionate short stature	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0001507	HP:0001548	Overgrowth	3	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001507	HP:0003363	Abdominal situs inversus	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0001507	HP:0001513	Obesity	3	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0003498	Disproportionate short stature	3	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0001824	Weight loss	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0001507	HP:0001508	Failure to thrive	3	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent		107
HP:0001507	HP:0001508	Failure to thrive	3	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0001507	HP:0001508	Failure to thrive	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0001507	HP:0001518	Small for gestational age	3	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0001507	HP:0001518	Small for gestational age	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0001507	HP:0001518	Small for gestational age	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent
HP:0001507	HP:0001824	Weight loss	3	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0001507	HP:0001519	Disproportionate tall stature	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0001507	HP:0001519	Disproportionate tall stature	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent		105
HP:0001507	HP:0001508	Failure to thrive	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001507	HP:0001508	Failure to thrive	3	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040283 - Occasional		60
HP:0001507	HP:0001824	Weight loss	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001507	HP:0001508	Failure to thrive	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0001507	HP:0001508	Failure to thrive	3	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0001507	HP:0001824	Weight loss	3	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		56
HP:0001507	HP:0001824	Weight loss	3	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1121
HP:0001507	HP:0001513	Obesity	3	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040282 - Frequent		244
HP:0001507	HP:0001508	Failure to thrive	3	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		244
HP:0001507	HP:0001508	Failure to thrive	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0001507	HP:0001508	Failure to thrive	3	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		47
HP:0001507	HP:0001513	Obesity	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040281 - Very frequent		103
HP:0001507	HP:0001518	Small for gestational age	3	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0001507	HP:0003508	Proportionate short stature	3	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001507	HP:0001508	Failure to thrive	3	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0001507	HP:0001508	Failure to thrive	3	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0001507	HP:0001508	Failure to thrive	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0001507	HP:0001508	Failure to thrive	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0001518	Small for gestational age	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0001507	HP:0003498	Disproportionate short stature	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0001507	HP:0001508	Failure to thrive	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0001513	Obesity	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001507	HP:0001513	Obesity	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0001507	HP:0001508	Failure to thrive	3	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0001507	HP:0001508	Failure to thrive	3	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0001507	HP:0003508	Proportionate short stature	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0001507	HP:0001508	Failure to thrive	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001507	HP:0001533	Slender build	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0001507	HP:0001824	Weight loss	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0001507	HP:0001508	Failure to thrive	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0001507	HP:0001533	Slender build	3	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0001507	HP:0001824	Weight loss	3	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0001507	HP:0001824	Weight loss	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0001507	HP:0001824	Weight loss	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001507	HP:0001508	Failure to thrive	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0001507	HP:0001508	Failure to thrive	3	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional		45
HP:0001507	HP:0001508	Failure to thrive	3	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0001507	HP:0001508	Failure to thrive	3	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0001507	HP:0001508	Failure to thrive	3	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0001507	HP:0001508	Failure to thrive	3	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001507	HP:0001508	Failure to thrive	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0001507	HP:0001508	Failure to thrive	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0001507	HP:0001518	Small for gestational age	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001507	HP:0001533	Slender build	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0001507	HP:0001508	Failure to thrive	3	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001507	HP:0001513	Obesity	3	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.		27
HP:0001507	HP:0031819	Increased waist to hip ratio	3	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0001507	HP:0001508	Failure to thrive	3	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional		27
HP:0001507	HP:0001513	Obesity	3	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040280 - Obligate		27
HP:0001507	HP:0001513	Obesity	3	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0001507	HP:0001513	Obesity	3	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		180
HP:0001507	HP:0001508	Failure to thrive	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.		2
HP:0001507	HP:0001518	Small for gestational age	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0001507	HP:0001519	Disproportionate tall stature	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0001507	HP:0000839	Pituitary dwarfism	3	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		36
HP:0001507	HP:0000839	Pituitary dwarfism	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		36
HP:0001507	HP:0025502	Overweight	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		36
HP:0001507	HP:0001508	Failure to thrive	3	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.		36
HP:0001507	HP:0001513	Obesity	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0001507	HP:0001824	Weight loss	3	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0001507	HP:0011407	Proportionate tall stature	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0001507	HP:0031819	Increased waist to hip ratio	3	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		42
HP:0001507	HP:0001513	Obesity	3	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.		42
HP:0001507	HP:0031819	Increased waist to hip ratio	3	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0001507	HP:0001508	Failure to thrive	3	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0001518	Small for gestational age	3	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001507	HP:0003498	Disproportionate short stature	3	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0001507	HP:0001508	Failure to thrive	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001507	HP:0001518	Small for gestational age	3	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001507	HP:0001518	Small for gestational age	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0003508	Proportionate short stature	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0031819	Increased waist to hip ratio	3	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		12
HP:0001507	HP:0001518	Small for gestational age	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0001507	HP:0001508	Failure to thrive	3	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0001507	HP:0001518	Small for gestational age	3	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent		28
HP:0001507	HP:0001513	Obesity	3	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		39
HP:0001507	HP:0001508	Failure to thrive	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0001507	HP:0001513	Obesity	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001507	HP:0001508	Failure to thrive	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001507	HP:0001508	Failure to thrive	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.		58
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001507	HP:0001508	Failure to thrive	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0003498	Disproportionate short stature	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0001513	Obesity	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001507	HP:0001508	Failure to thrive	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0003498	Disproportionate short stature	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0001518	Small for gestational age	3	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0001507	HP:0003498	Disproportionate short stature	3	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0001507	HP:0001513	Obesity	3	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		134
HP:0001507	HP:0003508	Proportionate short stature	3	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0001507	HP:0001824	Weight loss	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0001507	HP:0001824	Weight loss	3	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0001507	HP:0001513	Obesity	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001507	HP:0001513	Obesity	3	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0001507	HP:0001513	Obesity	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001507	HP:0001513	Obesity	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0001507	HP:0001508	Failure to thrive	3	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0001507	HP:0001508	Failure to thrive	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0003498	Disproportionate short stature	3	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001507	HP:0003498	Disproportionate short stature	3	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001507	HP:0001513	Obesity	3	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0001507	HP:0001513	Obesity	3	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0001824	Weight loss	3	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0001507	HP:0001824	Weight loss	3	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0001507	HP:0001824	Weight loss	3	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0001507	HP:0001513	Obesity	3	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	HP:0040283 - Occasional		9
HP:0001507	HP:0001513	Obesity	3	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0003782	Eunuchoid habitus	3	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		9
HP:0001507	HP:0001513	Obesity	3	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0001507	HP:0003782	Eunuchoid habitus	3	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		34
HP:0001507	HP:0001513	Obesity	3	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0001507	HP:0001513	Obesity	3	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		110
HP:0001507	HP:0000839	Pituitary dwarfism	3	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		54
HP:0001507	HP:0000839	Pituitary dwarfism	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		54
HP:0001507	HP:0025502	Overweight	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		54
HP:0001507	HP:0000839	Pituitary dwarfism	3	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		54
HP:0001507	HP:0001513	Obesity	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001507	HP:0001513	Obesity	3	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0001507	HP:0001513	Obesity	3	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		70
HP:0001507	HP:0001513	Obesity	3	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0001507	HP:0001513	Obesity	3	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		51
HP:0001507	HP:0001513	Obesity	3	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		94
HP:0001507	HP:0001513	Obesity	3	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		159
HP:0001507	HP:0001518	Small for gestational age	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0001507	HP:0001508	Failure to thrive	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001507	HP:0001824	Weight loss	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		81
HP:0001507	HP:0001824	Weight loss	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0001507	HP:0001508	Failure to thrive	3	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001507	HP:0001508	Failure to thrive	3	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001507	HP:0001508	Failure to thrive	3	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001507	HP:0001508	Failure to thrive	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001507	HP:0001508	Failure to thrive	3	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0001507	HP:0001508	Failure to thrive	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001507	HP:0001508	Failure to thrive	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0001513	Obesity	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0001507	HP:0200053	Hemihypotrophy of lower limb	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0001518	Small for gestational age	3	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0003508	Proportionate short stature	3	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0001508	Failure to thrive	3	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0001508	Failure to thrive	3	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0001507	HP:0001508	Failure to thrive	3	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0001520	Large for gestational age	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0001507	HP:0001508	Failure to thrive	3	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0001507	HP:0001508	Failure to thrive	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0001507	HP:0003508	Proportionate short stature	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0001507	HP:0001824	Weight loss	3	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0001507	HP:0001508	Failure to thrive	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0001507	HP:0001824	Weight loss	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001507	HP:0001513	Obesity	3	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0001507	HP:0001519	Disproportionate tall stature	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0001824	Weight loss	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0001507	HP:0001518	Small for gestational age	3	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.		22
HP:0001507	HP:0001508	Failure to thrive	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001507	HP:0003498	Disproportionate short stature	3	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001507	HP:0003508	Proportionate short stature	3	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0001507	HP:0031819	Increased waist to hip ratio	3	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0001507	HP:0012569	Delayed menarche	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0001507	HP:0001508	Failure to thrive	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001507	HP:0001508	Failure to thrive	3	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		3
HP:0001507	HP:0001824	Weight loss	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0001507	HP:0001824	Weight loss	3	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0001507	HP:0001824	Weight loss	3	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0001507	HP:0001508	Failure to thrive	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0001507	HP:0001508	Failure to thrive	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0001507	HP:0001518	Small for gestational age	3	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0001507	HP:0001518	Small for gestational age	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001507	HP:0003498	Disproportionate short stature	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001507	HP:0001508	Failure to thrive	3	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001507	HP:0001508	Failure to thrive	3	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0001507	HP:0001508	Failure to thrive	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001508	Failure to thrive	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001508	Failure to thrive	3	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0001507	HP:0003508	Proportionate short stature	3	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0001507	HP:0001508	Failure to thrive	3	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0001507	HP:0001508	Failure to thrive	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent		11
HP:0001507	HP:0001508	Failure to thrive	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent		71
HP:0001507	HP:0001508	Failure to thrive	3	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0001507	HP:0001513	Obesity	3	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		31
HP:0001507	HP:0001513	Obesity	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001507	HP:0003498	Disproportionate short stature	3	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2			53
HP:0001507	HP:0001508	Failure to thrive	3	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0001507	HP:0001824	Weight loss	3	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C			9
HP:0001507	HP:0001508	Failure to thrive	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0001507	HP:0001513	Obesity	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0001507	HP:0001824	Weight loss	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001507	HP:0001824	Weight loss	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001507	HP:0001520	Large for gestational age	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001507	HP:0001508	Failure to thrive	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.		127
HP:0001507	HP:0001508	Failure to thrive	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		127
HP:0001507	HP:0001508	Failure to thrive	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent		127
HP:0001507	HP:0001508	Failure to thrive	3	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		127
HP:0001507	HP:0001508	Failure to thrive	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.		50
HP:0001507	HP:0001508	Failure to thrive	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		50
HP:0001507	HP:0001508	Failure to thrive	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent		50
HP:0001507	HP:0001508	Failure to thrive	3	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		50
HP:0001507	HP:0001508	Failure to thrive	3	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0001507	HP:0001508	Failure to thrive	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001507	HP:0001508	Failure to thrive	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001507	HP:0001513	Obesity	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0001507	HP:0001508	Failure to thrive	3	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001507	HP:0001824	Weight loss	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0001508	Failure to thrive	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0001507	HP:0100553	Hemihypertrophy of lower limb	3	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent		88
HP:0001507	HP:0001508	Failure to thrive	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001507	HP:0001824	Weight loss	3	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare		365
HP:0001507	HP:0001824	Weight loss	3	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0001507	HP:0001518	Small for gestational age	3	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.		68
HP:0001507	HP:0001508	Failure to thrive	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.		10
HP:0001507	HP:0001508	Failure to thrive	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0001507	HP:0001508	Failure to thrive	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent		16
HP:0001507	HP:0001513	Obesity	3	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0001507	HP:0001513	Obesity	3	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		108
HP:0001507	HP:0001508	Failure to thrive	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0001513	Obesity	3	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0001507	HP:0001508	Failure to thrive	3	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0001507	HP:0001518	Small for gestational age	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0001507	HP:0001518	Small for gestational age	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0001507	HP:0001513	Obesity	3	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0001507	HP:0001508	Failure to thrive	3	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53	.		1
HP:0001507	HP:0001508	Failure to thrive	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0001507	HP:0001513	Obesity	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001507	HP:0001824	Weight loss	3	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7
HP:0001507	HP:0001508	Failure to thrive	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		572
HP:0001507	HP:0001518	Small for gestational age	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		572
HP:0001507	HP:0001824	Weight loss	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0001507	HP:0001508	Failure to thrive	3	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0001507	HP:0001824	Weight loss	3	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		572
HP:0001507	HP:0001508	Failure to thrive	3	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0001507	HP:0001519	Disproportionate tall stature	3	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.		572
HP:0001507	HP:0001824	Weight loss	3	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0001507	HP:0031819	Increased waist to hip ratio	3	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0001507	HP:0001508	Failure to thrive	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0001507	HP:0001508	Failure to thrive	3	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0001507	HP:0001824	Weight loss	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.		38
HP:0001507	HP:0001508	Failure to thrive	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		38
HP:0001507	HP:0001508	Failure to thrive	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.		26
HP:0001507	HP:0001508	Failure to thrive	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		26
HP:0001507	HP:0001508	Failure to thrive	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.		34
HP:0001507	HP:0001508	Failure to thrive	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		34
HP:0001507	HP:0001513	Obesity	3	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0001507	HP:0001824	Weight loss	3	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent		80
HP:0001507	HP:0001513	Obesity	3	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		107
HP:0001507	HP:0001508	Failure to thrive	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0001507	HP:0001508	Failure to thrive	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0001520	Large for gestational age	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001507	HP:0001513	Obesity	3	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0001507	HP:0003498	Disproportionate short stature	3	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.		37
HP:0001507	HP:0003508	Proportionate short stature	3	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0001508	Failure to thrive	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0001507	HP:0003498	Disproportionate short stature	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001507	HP:0003498	Disproportionate short stature	3	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001507	HP:0001508	Failure to thrive	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		37
HP:0001507	HP:0001508	Failure to thrive	3	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001507	HP:0001508	Failure to thrive	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001520	Large for gestational age	3	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0001548	Overgrowth	3	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0001824	Weight loss	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0001508	Failure to thrive	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001507	HP:0001513	Obesity	3	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0001507	HP:0001518	Small for gestational age	3	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0001507	HP:0003508	Proportionate short stature	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001507	HP:0001508	Failure to thrive	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001507	HP:0003498	Disproportionate short stature	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001507	HP:0001508	Failure to thrive	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001507	HP:0001824	Weight loss	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001507	HP:0001508	Failure to thrive	3	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0001513	Obesity	3	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		38
HP:0001507	HP:0003498	Disproportionate short stature	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001507	HP:0001513	Obesity	3	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		111
HP:0001507	HP:0001513	Obesity	3	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		284
HP:0001507	HP:0001513	Obesity	3	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0001507	HP:0001513	Obesity	3	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0001507	HP:0001513	Obesity	3	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		129
HP:0001507	HP:0001513	Obesity	3	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		200
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040280 - Obligate		10
HP:0001507	HP:0001518	Small for gestational age	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001507	HP:0003508	Proportionate short stature	3	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0001507	HP:0001518	Small for gestational age	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001507	HP:0001518	Small for gestational age	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001507	HP:0001518	Small for gestational age	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0001507	HP:0001518	Small for gestational age	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0001507	HP:0001508	Failure to thrive	3	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0001507	HP:0001518	Small for gestational age	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0001507	HP:0001518	Small for gestational age	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0001507	HP:0001518	Small for gestational age	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0001507	HP:0001508	Failure to thrive	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0001507	HP:0001518	Small for gestational age	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0001824	Weight loss	3	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0001507	HP:0001518	Small for gestational age	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001507	HP:0001518	Small for gestational age	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0001507	HP:0001518	Small for gestational age	3	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0001507	HP:0001513	Obesity	3	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional		65
HP:0001507	HP:0001518	Small for gestational age	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0001507	HP:0001508	Failure to thrive	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0001507	HP:0001508	Failure to thrive	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0001507	HP:0001824	Weight loss	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0001507	HP:0001824	Weight loss	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0001507	HP:0003498	Disproportionate short stature	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001507	HP:0001508	Failure to thrive	3	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0001507	HP:0001518	Small for gestational age	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001507	HP:0001520	Large for gestational age	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0001507	HP:0001548	Overgrowth	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001507	HP:0001520	Large for gestational age	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001507	HP:0001548	Overgrowth	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare
HP:0001507	HP:0001513	Obesity	3	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0003508	Proportionate short stature	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0001507	HP:0003508	Proportionate short stature	3	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0001507	HP:0001824	Weight loss	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0001507	HP:0003508	Proportionate short stature	3	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0001507	HP:0001520	Large for gestational age	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0001507	HP:0001508	Failure to thrive	3	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0001507	HP:0001508	Failure to thrive	3	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001507	HP:0001508	Failure to thrive	3	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001507	HP:0001513	Obesity	3	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001507	HP:0001518	Small for gestational age	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001507	HP:0003508	Proportionate short stature	3	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0001507	HP:0001508	Failure to thrive	3	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040282 - Frequent		8
HP:0001507	HP:0001508	Failure to thrive	3	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.		8
HP:0001507	HP:0001533	Slender build	3	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0001507	HP:0001508	Failure to thrive	3	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0001507	HP:0001513	Obesity	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0025502	Overweight	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001507	HP:0001508	Failure to thrive	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0001507	HP:0001508	Failure to thrive	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0001507	HP:0001518	Small for gestational age	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0001507	HP:0001508	Failure to thrive	3	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0001507	HP:0001513	Obesity	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		126
HP:0001507	HP:0001508	Failure to thrive	3	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		427
HP:0001507	HP:0001508	Failure to thrive	3	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0001507	HP:0001508	Failure to thrive	3	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0001507	HP:0001508	Failure to thrive	3	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0001507	HP:0001508	Failure to thrive	3	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0001507	HP:0001824	Weight loss	3	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		67
HP:0001507	HP:0003508	Proportionate short stature	3	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		67
HP:0001507	HP:0001824	Weight loss	3	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0001507	HP:0001508	Failure to thrive	3	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.		67
HP:0001507	HP:0001508	Failure to thrive	3	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0001507	HP:0001824	Weight loss	3	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		61
HP:0001507	HP:0003508	Proportionate short stature	3	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		61
HP:0001507	HP:0001824	Weight loss	3	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0001507	HP:0001508	Failure to thrive	3	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0001507	HP:0001824	Weight loss	3	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		57
HP:0001507	HP:0003508	Proportionate short stature	3	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		57
HP:0001507	HP:0001824	Weight loss	3	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0001507	HP:0001508	Failure to thrive	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001507	HP:0001508	Failure to thrive	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0001507	HP:0001513	Obesity	3	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.		2
HP:0001507	HP:0031819	Increased waist to hip ratio	3	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0001507	HP:0001513	Obesity	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		61
HP:0001507	HP:0001513	Obesity	3	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0001507	HP:0001824	Weight loss	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0001507	HP:0001824	Weight loss	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001507	HP:0003508	Proportionate short stature	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001507	HP:0001508	Failure to thrive	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0001507	HP:0001824	Weight loss	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001507	HP:0003508	Proportionate short stature	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001507	HP:0001824	Weight loss	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0001507	HP:0001824	Weight loss	3	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		237
HP:0001507	HP:0001508	Failure to thrive	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0001507	HP:0001824	Weight loss	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0001507	HP:0001824	Weight loss	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001507	HP:0003508	Proportionate short stature	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001507	HP:0001824	Weight loss	3	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0001507	HP:0001824	Weight loss	3	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		147
HP:0001507	HP:0001508	Failure to thrive	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0001507	HP:0001824	Weight loss	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0001507	HP:0001824	Weight loss	3	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent		129
HP:0001507	HP:0001508	Failure to thrive	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0001507	HP:0001824	Weight loss	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0001507	HP:0001824	Weight loss	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001507	HP:0003508	Proportionate short stature	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001507	HP:0001824	Weight loss	3	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0001507	HP:0001508	Failure to thrive	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0001507	HP:0001508	Failure to thrive	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001507	HP:0001513	Obesity	3	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001507	HP:0003508	Proportionate short stature	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001507	HP:0001508	Failure to thrive	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0001507	HP:0001508	Failure to thrive	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0001507	HP:0001824	Weight loss	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0001507	HP:0001508	Failure to thrive	3	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001507	HP:0001508	Failure to thrive	3	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001507	HP:0001513	Obesity	3	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0001507	HP:0001508	Failure to thrive	3	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0001824	Weight loss	3	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0001507	HP:0001824	Weight loss	3	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		2
HP:0001507	HP:0001824	Weight loss	3	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		48
HP:0001507	HP:0001513	Obesity	3	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0001507	HP:0001824	Weight loss	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0001507	HP:0001508	Failure to thrive	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0001507	HP:0045082	Decreased body mass index	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0001507	HP:0001513	Obesity	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0001507	HP:0001508	Failure to thrive	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0001507	HP:0001508	Failure to thrive	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0001507	HP:0001513	Obesity	3	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001507	HP:0001513	Obesity	3	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0001548	Overgrowth	3	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001507	HP:0001508	Failure to thrive	3	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	.		51
HP:0001507	HP:0001508	Failure to thrive	3	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0001507	HP:0003508	Proportionate short stature	3	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0001507	HP:0001508	Failure to thrive	3	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	.		2
HP:0001507	HP:0001513	Obesity	3	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.		2
HP:0001507	HP:0001508	Failure to thrive	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0001507	HP:0001513	Obesity	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0001507	HP:0001508	Failure to thrive	3	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0001508	Failure to thrive	3	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0001507	HP:0001508	Failure to thrive	3	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0001508	Failure to thrive	3	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0001507	HP:0001508	Failure to thrive	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0001520	Large for gestational age	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001507	HP:0003498	Disproportionate short stature	3	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0001507	HP:0003498	Disproportionate short stature	3	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0001507	HP:0003508	Proportionate short stature	3	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0001507	HP:0003498	Disproportionate short stature	3	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis			66
HP:0001507	HP:0003498	Disproportionate short stature	3	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0001507	HP:0001513	Obesity	3	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040282 - Frequent		66
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0001507	HP:0001518	Small for gestational age	3	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0001507	HP:0001824	Weight loss	3	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0001507	HP:0001508	Failure to thrive	3	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		11
HP:0001507	HP:0003498	Disproportionate short stature	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001507	HP:0003508	Proportionate short stature	3	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0001507	HP:0001508	Failure to thrive	3	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0001507	HP:0001513	Obesity	3	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0001507	HP:0001513	Obesity	3	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0001507	HP:0001508	Failure to thrive	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0001507	HP:0001513	Obesity	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		40
HP:0001507	HP:0001508	Failure to thrive	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0001513	Obesity	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0001518	Small for gestational age	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0001507	HP:0001513	Obesity	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0001518	Small for gestational age	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001507	HP:0001518	Small for gestational age	3	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0001507	HP:0001513	Obesity	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001507	HP:0001508	Failure to thrive	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0001507	HP:0001518	Small for gestational age	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0001507	HP:0001518	Small for gestational age	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0001507	HP:0001518	Small for gestational age	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001507	HP:0001518	Small for gestational age	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001507	HP:0001508	Failure to thrive	3	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary	.		6
HP:0001507	HP:0001513	Obesity	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0001507	HP:0001508	Failure to thrive	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0045082	Decreased body mass index	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0001507	HP:0001824	Weight loss	3	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001507	HP:0001518	Small for gestational age	3	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001507	HP:0001508	Failure to thrive	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		145
HP:0001507	HP:0001508	Failure to thrive	3	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0001507	HP:0001508	Failure to thrive	3	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0001507	HP:0001508	Failure to thrive	3	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001507	HP:0001518	Small for gestational age	3	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare		57
HP:0001507	HP:0045082	Decreased body mass index	3	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0001507	HP:0001508	Failure to thrive	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0001507	HP:0001508	Failure to thrive	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0001507	HP:0001508	Failure to thrive	3	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0001507	HP:0001824	Weight loss	3	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0001507	HP:0001508	Failure to thrive	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0001507	HP:0001824	Weight loss	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001507	HP:0045082	Decreased body mass index	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent		82
HP:0001507	HP:0012569	Delayed menarche	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.		82
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0001518	Small for gestational age	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040282 - Frequent		35
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0001507	HP:0001513	Obesity	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	HP:0040283 - Occasional		68
HP:0001507	HP:0001508	Failure to thrive	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0001507	HP:0003508	Proportionate short stature	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001507	HP:0001518	Small for gestational age	3	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0001507	HP:0003508	Proportionate short stature	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0001507	HP:0001508	Failure to thrive	3	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0001507	HP:0001508	Failure to thrive	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0001507	HP:0045082	Decreased body mass index	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0001507	HP:0031819	Increased waist to hip ratio	3	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		71
HP:0001507	HP:0001508	Failure to thrive	3	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.		71
HP:0001507	HP:0001508	Failure to thrive	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent		71
HP:0001507	HP:0001824	Weight loss	3	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0001507	HP:0045082	Decreased body mass index	3	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0001507	HP:0031819	Increased waist to hip ratio	3	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0001507	HP:0001508	Failure to thrive	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001507	HP:0001508	Failure to thrive	3	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2			47
HP:0001507	HP:0001824	Weight loss	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		47
HP:0001507	HP:0001824	Weight loss	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0001507	HP:0001508	Failure to thrive	3	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0001507	HP:0001508	Failure to thrive	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001507	HP:0001508	Failure to thrive	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040281 - Very frequent		71
HP:0001507	HP:0001518	Small for gestational age	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent		71
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001507	HP:0001508	Failure to thrive	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001507	HP:0001508	Failure to thrive	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent		110
HP:0001507	HP:0001508	Failure to thrive	3	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0003508	Proportionate short stature	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0001507	HP:0001508	Failure to thrive	3	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		24
HP:0001507	HP:0003508	Proportionate short stature	3	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0001507	HP:0001508	Failure to thrive	3	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0001507	HP:0001824	Weight loss	3	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040283 - Occasional		55
HP:0001507	HP:0001508	Failure to thrive	3	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0001507	HP:0001508	Failure to thrive	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001507	HP:0001508	Failure to thrive	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001507	HP:0003498	Disproportionate short stature	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001507	HP:0001508	Failure to thrive	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0001507	HP:0001508	Failure to thrive	3	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		55
HP:0001507	HP:0001508	Failure to thrive	3	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0001507	HP:0001508	Failure to thrive	3	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent		101
HP:0001507	HP:0001508	Failure to thrive	3	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0001507	HP:0001508	Failure to thrive	3	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001507	HP:0001508	Failure to thrive	3	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040281 - Very frequent		74
HP:0001507	HP:0001824	Weight loss	3	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040281 - Very frequent		74
HP:0001507	HP:0001508	Failure to thrive	3	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.		74
HP:0001507	HP:0008855	Moderate postnatal growth retardation	3	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040283 - Occasional		41
HP:0001507	HP:0001508	Failure to thrive	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045082	Decreased body mass index	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001508	Failure to thrive	3	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0001507	HP:0001824	Weight loss	3	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0001507	HP:0001513	Obesity	3	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040281 - Very frequent		104
HP:0001507	HP:0001508	Failure to thrive	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0001507	HP:0001513	Obesity	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0001507	HP:0001508	Failure to thrive	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0001507	HP:0045082	Decreased body mass index	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0001507	HP:0001824	Weight loss	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0001507	HP:0001824	Weight loss	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001507	HP:0001519	Disproportionate tall stature	3	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0001507	HP:0001519	Disproportionate tall stature	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional		260
HP:0001507	HP:0001519	Disproportionate tall stature	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001507	HP:0001824	Weight loss	3	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		504
HP:0001507	HP:0001508	Failure to thrive	3	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome	HP:0040282 - Frequent		504
HP:0001507	HP:0001513	Obesity	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0001518	Small for gestational age	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0003508	Proportionate short stature	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001507	HP:0001508	Failure to thrive	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0001507	HP:0003508	Proportionate short stature	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0003508	Proportionate short stature	3	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0001518	Small for gestational age	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0003498	Disproportionate short stature	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0001507	HP:0001508	Failure to thrive	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0001507	HP:0001518	Small for gestational age	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0001507	HP:0003498	Disproportionate short stature	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0001507	HP:0001513	Obesity	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0001507	HP:0001508	Failure to thrive	3	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0001507	HP:0001508	Failure to thrive	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001507	HP:0001513	Obesity	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0001507	HP:0001508	Failure to thrive	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0001507	HP:0001513	Obesity	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0001507	HP:0001508	Failure to thrive	3	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		135
HP:0001507	HP:0001508	Failure to thrive	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0001507	HP:0001513	Obesity	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0001507	HP:0001508	Failure to thrive	3	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0001507	HP:0001824	Weight loss	3	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		22
HP:0001507	HP:0001513	Obesity	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0001507	HP:0001508	Failure to thrive	3	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0001507	HP:0001508	Failure to thrive	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001507	HP:0001519	Disproportionate tall stature	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent		19
HP:0001507	HP:0001508	Failure to thrive	3	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0001507	HP:0001824	Weight loss	3	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0001507	HP:0001824	Weight loss	3	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.		65
HP:0001507	HP:0001508	Failure to thrive	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001508	Failure to thrive	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0001513	Obesity	3	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		83
HP:0001507	HP:0001513	Obesity	3	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0001507	HP:0001513	Obesity	3	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0001507	HP:0001513	Obesity	3	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0001507	HP:0001508	Failure to thrive	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0001507	HP:0001513	Obesity	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		37
HP:0001507	HP:0001518	Small for gestational age	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0001507	HP:0001508	Failure to thrive	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0001507	HP:0001513	Obesity	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		37
HP:0001507	HP:0001518	Small for gestational age	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0001507	HP:0001508	Failure to thrive	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0001507	HP:0001513	Obesity	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		37
HP:0001507	HP:0001518	Small for gestational age	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0001507	HP:0001513	Obesity	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent		37
HP:0001507	HP:0001508	Failure to thrive	3	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0001507	HP:0001508	Failure to thrive	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001507	HP:0003508	Proportionate short stature	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0001507	HP:0001508	Failure to thrive	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001507	HP:0001520	Large for gestational age	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001507	HP:0001548	Overgrowth	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0001507	HP:0001513	Obesity	3	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0001507	HP:0001513	Obesity	3	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0001507	HP:0000839	Pituitary dwarfism	3	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		24
HP:0001507	HP:0000839	Pituitary dwarfism	3	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked	.		24
HP:0001507	HP:0001513	Obesity	3	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0001507	HP:0001508	Failure to thrive	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0001507	HP:0003498	Disproportionate short stature	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001507	HP:0001508	Failure to thrive	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0001507	HP:0001508	Failure to thrive	3	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0001507	HP:0001513	Obesity	3	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0001507	HP:0001508	Failure to thrive	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0001513	Obesity	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0001513	Obesity	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001507	HP:0001513	Obesity	3	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0001507	HP:0025502	Overweight	3	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0001507	HP:0001824	Weight loss	3	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0001507	HP:0001513	Obesity	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0001507	HP:0001824	Weight loss	3	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0001507	HP:0001508	Failure to thrive	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0001507	HP:0001508	Failure to thrive	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001507	HP:0001518	Small for gestational age	3	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040283 - Occasional		28
HP:0001507	HP:0001513	Obesity	3	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0003782	Eunuchoid habitus	3	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		5
HP:0001507	HP:0001508	Failure to thrive	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0001513	Obesity	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0025502	Overweight	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001507	HP:0001824	Weight loss	3	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0001507	HP:0001518	Small for gestational age	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040281 - Very frequent		138
HP:0001507	HP:0001508	Failure to thrive	3	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0001507	HP:0001508	Failure to thrive	3	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0001507	HP:0001824	Weight loss	3	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001507	HP:0001518	Small for gestational age	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001507	HP:0001824	Weight loss	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0001507	HP:0001824	Weight loss	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		1
HP:0001507	HP:0001513	Obesity	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0001507	HP:0001508	Failure to thrive	3	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0001507	HP:0001508	Failure to thrive	3	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent		12
HP:0001507	HP:0001508	Failure to thrive	3	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0001507	HP:0001518	Small for gestational age	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001507	HP:0001508	Failure to thrive	3	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0001507	HP:0001508	Failure to thrive	3	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0001507	HP:0001508	Failure to thrive	3	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001507	HP:0001518	Small for gestational age	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001507	HP:0001508	Failure to thrive	3	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		45
HP:0001507	HP:0001824	Weight loss	3	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		45
HP:0001507	HP:0001824	Weight loss	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001507	HP:0001824	Weight loss	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0001507	HP:0001508	Failure to thrive	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		110
HP:0001507	HP:0001824	Weight loss	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		110
HP:0001507	HP:0001824	Weight loss	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0001507	HP:0001530	Mild postnatal growth retardation	3	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0001507	HP:0001824	Weight loss	3	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0001507	HP:0001824	Weight loss	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0001507	HP:0001508	Failure to thrive	3	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0003508	Proportionate short stature	3	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0001824	Weight loss	3	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional		1
HP:0001507	HP:0001513	Obesity	3	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0001507	HP:0001508	Failure to thrive	3	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0001508	Failure to thrive	3	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0001507	HP:0001508	Failure to thrive	3	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0001508	Failure to thrive	3	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0001507	HP:0001508	Failure to thrive	3	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001507	HP:0001518	Small for gestational age	3	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		2
HP:0001507	HP:0031418	Increased body mass index	3	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		2
HP:0001507	HP:0001508	Failure to thrive	3	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		71
HP:0001507	HP:0001533	Slender build	3	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0001507	HP:0001508	Failure to thrive	3	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0001507	HP:0001508	Failure to thrive	3	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw	.		21
HP:0001507	HP:0001508	Failure to thrive	3	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040280 - Obligate		21
HP:0001507	HP:0001508	Failure to thrive	3	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0001507	HP:0001508	Failure to thrive	3	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040280 - Obligate		18
HP:0001507	HP:0012569	Delayed menarche	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0001507	HP:0001824	Weight loss	3	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0001507	HP:0001513	Obesity	3	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	HP:0040283 - Occasional		86
HP:0001507	HP:0001508	Failure to thrive	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0045082	Decreased body mass index	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0001507	HP:0001508	Failure to thrive	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0001507	HP:0001824	Weight loss	3	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0001507	HP:0001508	Failure to thrive	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0001507	HP:0001508	Failure to thrive	3	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001507	HP:0001520	Large for gestational age	3	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0001507	HP:0001513	Obesity	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0001507	HP:0001508	Failure to thrive	3	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional		8
HP:0001507	HP:0001508	Failure to thrive	3	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III	.		8
HP:0001507	HP:0001508	Failure to thrive	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0001507	HP:0001508	Failure to thrive	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0001507	HP:0001508	Failure to thrive	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0001507	HP:0001548	Overgrowth	3	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0001507	HP:0003517	Birth length greater than 97th percentile	3	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0001507	HP:0001824	Weight loss	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0001507	HP:0001518	Small for gestational age	3	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0001507	HP:0001513	Obesity	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0001507	HP:0001518	Small for gestational age	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001507	HP:0001513	Obesity	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0001507	HP:0001508	Failure to thrive	3	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0001507	HP:0001508	Failure to thrive	3	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0001507	HP:0001508	Failure to thrive	3	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001507	HP:0001508	Failure to thrive	3	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0001507	HP:0003782	Eunuchoid habitus	3	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		6
HP:0001507	HP:0001508	Failure to thrive	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0001507	HP:0001513	Obesity	3	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0001507	HP:0003782	Eunuchoid habitus	3	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		34
HP:0001507	HP:0001513	Obesity	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0001507	HP:0001518	Small for gestational age	3	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0001507	HP:0001508	Failure to thrive	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001507	HP:0001508	Failure to thrive	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001507	HP:0001518	Small for gestational age	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001507	HP:0001508	Failure to thrive	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0025502	Overweight	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001507	HP:0001518	Small for gestational age	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001507	HP:0001508	Failure to thrive	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0001507	HP:0001513	Obesity	3	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0001507	HP:0003508	Proportionate short stature	3	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.		52
HP:0001507	HP:0003561	Birth length less than 3rd percentile	3	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.		52
HP:0001507	HP:0008846	Severe intrauterine growth retardation	3	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0001507	HP:0001824	Weight loss	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0001507	HP:0001518	Small for gestational age	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0001507	HP:0001508	Failure to thrive	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001518	Small for gestational age	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001507	HP:0001513	Obesity	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001507	HP:0001513	Obesity	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0001507	HP:0003498	Disproportionate short stature	3	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0001507	HP:0001513	Obesity	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent		100
HP:0001507	HP:0001513	Obesity	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0001507	HP:0001508	Failure to thrive	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0001507	HP:0003508	Proportionate short stature	3	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis			19
HP:0001507	HP:0003498	Disproportionate short stature	3	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0001507	HP:0003508	Proportionate short stature	3	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0001507	HP:0001513	Obesity	3	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	HP:0040284 - Very rare		1
HP:0001507	HP:0001508	Failure to thrive	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0001507	HP:0001508	Failure to thrive	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040282 - Frequent		2
HP:0001507	HP:0001508	Failure to thrive	3	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0001507	HP:0001824	Weight loss	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0001507	HP:0031819	Increased waist to hip ratio	3	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		4
HP:0001507	HP:0001508	Failure to thrive	3	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0001507	HP:0001508	Failure to thrive	3	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0001507	HP:0001508	Failure to thrive	3	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0001507	HP:0001508	Failure to thrive	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent		31
HP:0001507	HP:0003508	Proportionate short stature	3	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001507	HP:0001508	Failure to thrive	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0001507	HP:0001508	Failure to thrive	3	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0001507	HP:0001824	Weight loss	3	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0001507	HP:0001508	Failure to thrive	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0001507	HP:0001508	Failure to thrive	3	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0001507	HP:0001513	Obesity	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0001507	HP:0001824	Weight loss	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0001507	HP:0001824	Weight loss	3	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0001507	HP:0001824	Weight loss	3	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0001507	HP:0001824	Weight loss	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		3
HP:0001507	HP:0001508	Failure to thrive	3	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.		1
HP:0001507	HP:0001513	Obesity	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001507	HP:0001508	Failure to thrive	3	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0001507	HP:0001508	Failure to thrive	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040281 - Very frequent		6
HP:0001507	HP:0001533	Slender build	3	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001507	HP:0001533	Slender build	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0001507	HP:0001824	Weight loss	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001507	HP:0001508	Failure to thrive	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001507	HP:0001508	Failure to thrive	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0001507	HP:0045082	Decreased body mass index	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0001507	HP:0001508	Failure to thrive	3	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0001507	HP:0001508	Failure to thrive	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0001548	Overgrowth	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0001519	Disproportionate tall stature	3	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001507	HP:0001519	Disproportionate tall stature	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001507	HP:0001824	Weight loss	3	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		253
HP:0001507	HP:0001508	Failure to thrive	3	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0001507	HP:0001508	Failure to thrive	3	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent		98
HP:0001507	HP:0001513	Obesity	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0001518	Small for gestational age	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0031418	Increased body mass index	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35	HP:0040284 - Very rare		5
HP:0001507	HP:0025502	Overweight	3	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0001824	Weight loss	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		23
HP:0001507	HP:0031418	Increased body mass index	3	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0001507	HP:0001518	Small for gestational age	3	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.		161
HP:0001507	HP:0001519	Disproportionate tall stature	3	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001507	HP:0001518	Small for gestational age	3	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001507	HP:0001508	Failure to thrive	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0001507	HP:0001533	Slender build	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0001507	HP:0001508	Failure to thrive	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0001507	HP:0001508	Failure to thrive	3	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0001507	HP:0001508	Failure to thrive	3	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.		149
HP:0001507	HP:0001508	Failure to thrive	3	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001507	HP:0001508	Failure to thrive	3	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001507	HP:0003508	Proportionate short stature	3	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0001507	HP:0003508	Proportionate short stature	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040281 - Very frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001507	HP:0001508	Failure to thrive	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0001507	HP:0001824	Weight loss	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0001507	HP:0001520	Large for gestational age	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001507	HP:0001508	Failure to thrive	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001507	HP:0001508	Failure to thrive	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0001507	HP:0001508	Failure to thrive	3	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0001507	HP:0001824	Weight loss	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0001507	HP:0001508	Failure to thrive	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0001507	HP:0001508	Failure to thrive	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0001507	HP:0001508	Failure to thrive	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0001507	HP:0025502	Overweight	3	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001507	HP:0001508	Failure to thrive	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0001507	HP:0001513	Obesity	3	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.		166
HP:0001507	HP:0001508	Failure to thrive	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0001507	HP:0001518	Small for gestational age	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0001507	HP:0001508	Failure to thrive	3	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency	.		5
HP:0001507	HP:0001508	Failure to thrive	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0001507	HP:0001508	Failure to thrive	3	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0001507	HP:0001508	Failure to thrive	3	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0001507	HP:0001508	Failure to thrive	3	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0001507	HP:0001513	Obesity	3	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0001507	HP:0001513	Obesity	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0001507	HP:0001508	Failure to thrive	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001507	HP:0001518	Small for gestational age	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0001507	HP:0003498	Disproportionate short stature	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001507	HP:0003498	Disproportionate short stature	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0001507	HP:0001508	Failure to thrive	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0001507	HP:0001513	Obesity	3	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		61
HP:0001507	HP:0001824	Weight loss	3	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0001507	HP:0001513	Obesity	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001507	HP:0001824	Weight loss	3	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		911
HP:0001507	HP:0001824	Weight loss	3	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare		911
HP:0001507	HP:0001518	Small for gestational age	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		140
HP:0001507	HP:0001508	Failure to thrive	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001507	HP:0001533	Slender build	3	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001507	HP:0001508	Failure to thrive	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0001507	HP:0001824	Weight loss	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0001507	HP:0001508	Failure to thrive	3	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001507	HP:0001533	Slender build	3	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001507	HP:0001508	Failure to thrive	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0001507	HP:0001824	Weight loss	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0001507	HP:0001508	Failure to thrive	3	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001507	HP:0001508	Failure to thrive	3	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.		1
HP:0001507	HP:0001513	Obesity	3	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional		6
HP:0001507	HP:0001513	Obesity	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0001507	HP:0001518	Small for gestational age	3	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001507	HP:0001508	Failure to thrive	3	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0001507	HP:0001508	Failure to thrive	3	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent		46
HP:0001507	HP:0003498	Disproportionate short stature	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0001507	HP:0003498	Disproportionate short stature	3	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0001507	HP:0001513	Obesity	3	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0001507	HP:0001513	Obesity	3	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0001507	HP:0025502	Overweight	3	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001824	Weight loss	3	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0001507	HP:0001513	Obesity	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		108
HP:0001507	HP:0001513	Obesity	3	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11	.		108
HP:0001507	HP:0001824	Weight loss	3	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0001507	HP:0001508	Failure to thrive	3	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0001507	HP:0001508	Failure to thrive	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0001507	HP:0003508	Proportionate short stature	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001507	HP:0003498	Disproportionate short stature	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001507	HP:0003498	Disproportionate short stature	3	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0001507	HP:0001513	Obesity	3	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	HP:0040284 - Very rare		2
HP:0001507	HP:0001824	Weight loss	3	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0001507	HP:0025502	Overweight	3	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional		4
HP:0001507	HP:0001508	Failure to thrive	3	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0001507	HP:0001518	Small for gestational age	3	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0001507	HP:0025515	Delayed thelarche	3	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional		7
HP:0001507	HP:0001518	Small for gestational age	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0003508	Proportionate short stature	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0001508	Failure to thrive	3	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.		3
HP:0001507	HP:0001508	Failure to thrive	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0001507	HP:0001508	Failure to thrive	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001507	HP:0001508	Failure to thrive	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001507	HP:0001508	Failure to thrive	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001824	Weight loss	3	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy			214
HP:0001507	HP:0003498	Disproportionate short stature	3	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3			214
HP:0001507	HP:0003498	Disproportionate short stature	3	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0003508	Proportionate short stature	3	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0001507	HP:0003508	Proportionate short stature	3	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0003508	Proportionate short stature	3	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism			214
HP:0001507	HP:0003498	Disproportionate short stature	3	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0003498	Disproportionate short stature	3	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0003508	Proportionate short stature	3	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0001507	HP:0001508	Failure to thrive	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0001507	HP:0001824	Weight loss	3	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent		97
HP:0001507	HP:0001518	Small for gestational age	3	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent		97
HP:0001507	HP:0001824	Weight loss	3	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent		97
HP:0001507	HP:0001518	Small for gestational age	3	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0001507	HP:0001518	Small for gestational age	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0001507	HP:0001508	Failure to thrive	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001507	HP:0001513	Obesity	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		41
HP:0001507	HP:0001513	Obesity	3	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.		41
HP:0001507	HP:0001513	Obesity	3	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		41
HP:0001507	HP:0001508	Failure to thrive	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0001507	HP:0001824	Weight loss	3	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent		107
HP:0001507	HP:0001513	Obesity	3	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	HP:0040283 - Occasional		1
HP:0001507	HP:0001513	Obesity	3	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0001507	HP:0001533	Slender build	3	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.		66
HP:0001507	HP:0003782	Eunuchoid habitus	3	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040282 - Frequent		66
HP:0001507	HP:0001513	Obesity	3	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		66
HP:0001507	HP:0001508	Failure to thrive	3	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0001508	Failure to thrive	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0001507	HP:0001824	Weight loss	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001507	HP:0001508	Failure to thrive	3	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		85
HP:0001507	HP:0001824	Weight loss	3	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		85
HP:0001507	HP:0001533	Slender build	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0001507	HP:0001824	Weight loss	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0001507	HP:0001824	Weight loss	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0001507	HP:0001508	Failure to thrive	3	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0001507	HP:0001508	Failure to thrive	3	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001507	HP:0001508	Failure to thrive	3	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0001507	HP:0001508	Failure to thrive	3	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0001507	HP:0001824	Weight loss	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001507	HP:0001824	Weight loss	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001507	HP:0001513	Obesity	3	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0001507	HP:0001513	Obesity	3	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0001507	HP:0001513	Obesity	3	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0001507	HP:0001513	Obesity	3	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0001507	HP:0001508	Failure to thrive	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001507	HP:0001508	Failure to thrive	3	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0001507	HP:0001508	Failure to thrive	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001513	Obesity	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001507	HP:0001508	Failure to thrive	3	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent		25
HP:0001507	HP:0001518	Small for gestational age	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001507	HP:0001520	Large for gestational age	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent		15
HP:0001507	HP:0001513	Obesity	3	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.		6
HP:0001507	HP:0031819	Increased waist to hip ratio	3	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0001507	HP:0001508	Failure to thrive	3	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0001507	HP:0001508	Failure to thrive	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001513	Obesity	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001507	HP:0001508	Failure to thrive	3	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional		135
HP:0001507	HP:0001508	Failure to thrive	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001507	HP:0001824	Weight loss	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001507	HP:0025502	Overweight	3	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001507	HP:0001508	Failure to thrive	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0001824	Weight loss	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0001508	Failure to thrive	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0001507	HP:0001824	Weight loss	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0001507	HP:0001519	Disproportionate tall stature	3	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0001507	HP:0001533	Slender build	3	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0001507	HP:0001508	Failure to thrive	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001507	HP:0001518	Small for gestational age	3	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001507	HP:0001518	Small for gestational age	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001507	HP:0001508	Failure to thrive	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0001507	HP:0001513	Obesity	3	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		777
HP:0001507	HP:0001513	Obesity	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001507	HP:0001508	Failure to thrive	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0025502	Overweight	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0001507	HP:0001513	Obesity	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001507	HP:0001513	Obesity	3	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0001507	HP:0001508	Failure to thrive	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001507	HP:0001518	Small for gestational age	3	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001507	HP:0001508	Failure to thrive	3	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0001507	HP:0001508	Failure to thrive	3	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2			490
HP:0001507	HP:0001824	Weight loss	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0001507	HP:0001824	Weight loss	3	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0001507	HP:0001508	Failure to thrive	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0001507	HP:0001824	Weight loss	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0001507	HP:0001508	Failure to thrive	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001507	HP:0001513	Obesity	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001507	HP:0001513	Obesity	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0001518	Small for gestational age	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0001507	HP:0001508	Failure to thrive	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0001507	HP:0001518	Small for gestational age	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001507	HP:0001824	Weight loss	3	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		37
HP:0001507	HP:0001508	Failure to thrive	3	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040284 - Very rare		7
HP:0001507	HP:0001508	Failure to thrive	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001507	HP:0001513	Obesity	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001507	HP:0001508	Failure to thrive	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.		7
HP:0001507	HP:0001508	Failure to thrive	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001507	HP:0001508	Failure to thrive	3	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001507	HP:0001508	Failure to thrive	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0001507	HP:0001513	Obesity	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0001507	HP:0001513	Obesity	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		60
HP:0001507	HP:0001513	Obesity	3	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0001507	HP:0003782	Eunuchoid habitus	3	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent		10
HP:0001507	HP:0001508	Failure to thrive	3	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040281 - Very frequent		10
HP:0001507	HP:0003498	Disproportionate short stature	3	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0001507	HP:0003498	Disproportionate short stature	3	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0001507	HP:0001508	Failure to thrive	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0001507	HP:0003498	Disproportionate short stature	3	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0001507	HP:0003498	Disproportionate short stature	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001507	HP:0003498	Disproportionate short stature	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001507	HP:0001508	Failure to thrive	3	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0001507	HP:0001518	Small for gestational age	3	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001507	HP:0001508	Failure to thrive	3	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001507	HP:0001518	Small for gestational age	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0001507	HP:0031819	Increased waist to hip ratio	3	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		389
HP:0001507	HP:0008850	Severe postnatal growth retardation	3	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040283 - Occasional		389
HP:0001507	HP:0001508	Failure to thrive	3	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9	.		1
HP:0001507	HP:0001513	Obesity	3	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040282 - Frequent		4
HP:0001507	HP:0003508	Proportionate short stature	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0001507	HP:0003498	Disproportionate short stature	3	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0001507	HP:0003498	Disproportionate short stature	3	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent		13
HP:0001507	HP:0003498	Disproportionate short stature	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	HP:0040282 - Frequent		13
HP:0001507	HP:0001533	Slender build	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0001507	HP:0001824	Weight loss	3	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent		177
HP:0001507	HP:0001824	Weight loss	3	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		177
HP:0001507	HP:0001513	Obesity	3	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040283 - Occasional		177
HP:0001507	HP:0001513	Obesity	3	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0001507	HP:0001508	Failure to thrive	3	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0001507	HP:0001508	Failure to thrive	3	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0001507	HP:0001824	Weight loss	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001507	HP:0003498	Disproportionate short stature	3	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0001507	HP:0001513	Obesity	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0003498	Disproportionate short stature	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0001513	Obesity	3	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0003508	Proportionate short stature	3	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0003498	Disproportionate short stature	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001507	HP:0003508	Proportionate short stature	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001507	HP:0001513	Obesity	3	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0001507	HP:0003498	Disproportionate short stature	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001507	HP:0001508	Failure to thrive	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001507	HP:0001508	Failure to thrive	3	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0001507	HP:0001518	Small for gestational age	3	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001507	HP:0001508	Failure to thrive	3	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001507	HP:0001518	Small for gestational age	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0001508	Failure to thrive	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent		46
HP:0001507	HP:0001508	Failure to thrive	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.		46
HP:0001507	HP:0001824	Weight loss	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0001507	HP:0003508	Proportionate short stature	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001507	HP:0001513	Obesity	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0025502	Overweight	3	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001507	HP:0001519	Disproportionate tall stature	3	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0001507	HP:0001519	Disproportionate tall stature	3	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.		10
HP:0001507	HP:0001508	Failure to thrive	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0001507	HP:0001508	Failure to thrive	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0001507	HP:0001508	Failure to thrive	3	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0001507	HP:0001508	Failure to thrive	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0001507	HP:0001518	Small for gestational age	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0001507	HP:0001508	Failure to thrive	3	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0001507	HP:0001508	Failure to thrive	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001507	HP:0003363	Abdominal situs inversus	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0031855	Right isomerism	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0001508	Failure to thrive	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001507	HP:0001824	Weight loss	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		83
HP:0001507	HP:0012569	Delayed menarche	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0001507	HP:0001518	Small for gestational age	3	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0001507	HP:0001513	Obesity	3	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040283 - Occasional		3
HP:0001507	HP:0001513	Obesity	3	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0001507	HP:0001519	Disproportionate tall stature	3	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0001507	HP:0001513	Obesity	3	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		27
HP:0001507	HP:0001508	Failure to thrive	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0001518	Small for gestational age	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0200053	Hemihypotrophy of lower limb	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001507	HP:0001513	Obesity	3	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0001507	HP:0001508	Failure to thrive	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001507	HP:0001824	Weight loss	3	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0001507	HP:0001513	Obesity	3	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0001508	Failure to thrive	3	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0001507	HP:0025499	Class I obesity	4	CL E G H
HP:0001507	HP:0025500	Class II obesity	4	CL E G H
HP:0001507	HP:0025501	Class III obesity	4	CL E G H
HP:0001507	HP:0033172	Increased triceps skinfold thickness	4	CL E G H
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		135
HP:0001507	HP:0004326	Cachexia	4	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0001507	HP:0003510	Severe short stature	4	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0001507	HP:0003510	Severe short stature	4	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0001507	HP:0001956	Truncal obesity	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.		117
HP:0001507	HP:0012743	Abdominal obesity	4	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0001507	HP:0004326	Cachexia	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0001507	HP:0001956	Truncal obesity	4	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0001507	HP:0001956	Truncal obesity	4	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0001507	HP:0003510	Severe short stature	4	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001507	HP:0001956	Truncal obesity	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0001507	HP:0001956	Truncal obesity	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0001507	HP:0004326	Cachexia	4	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0001507	HP:0003510	Severe short stature	4	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0001507	HP:0003510	Severe short stature	4	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001507	HP:0001956	Truncal obesity	4	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001507	HP:0012743	Abdominal obesity	4	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001507	HP:0012743	Abdominal obesity	4	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	HP:0040283 - Occasional		7
HP:0001507	HP:0012743	Abdominal obesity	4	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001507	HP:0001525	Severe failure to thrive	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0003510	Severe short stature	4	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		192
HP:0001507	HP:0004326	Cachexia	4	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0001507	HP:0004326	Cachexia	4	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001956	Truncal obesity	4	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		169
HP:0001507	HP:0012743	Abdominal obesity	4	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001507	HP:0003510	Severe short stature	4	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001507	HP:0001531	Failure to thrive in infancy	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001956	Truncal obesity	4	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001507	HP:0012743	Abdominal obesity	4	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001507	HP:0001956	Truncal obesity	4	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0001507	HP:0001531	Failure to thrive in infancy	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0001507	HP:0012743	Abdominal obesity	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0001507	HP:0004326	Cachexia	4	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.		90
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent		90
HP:0001507	HP:0001531	Failure to thrive in infancy	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001956	Truncal obesity	4	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0001531	Failure to thrive in infancy	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0001507	HP:0001956	Truncal obesity	4	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		276
HP:0001507	HP:0012743	Abdominal obesity	4	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001507	HP:0001531	Failure to thrive in infancy	4	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0001507	HP:0001956	Truncal obesity	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001507	HP:0003510	Severe short stature	4	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001507	HP:0001525	Severe failure to thrive	4	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		53
HP:0001507	HP:0001531	Failure to thrive in infancy	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004326	Cachexia	4	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare		1
HP:0001507	HP:0003502	Mild short stature	4	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0001507	HP:0003510	Severe short stature	4	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	HP:0003577 - Congenital onset	85
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0001507	HP:0003510	Severe short stature	4	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0001507	HP:0003502	Mild short stature	4	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001507	HP:0001956	Truncal obesity	4	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001507	HP:0012743	Abdominal obesity	4	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		38
HP:0001507	HP:0008866	Failure to thrive secondary to recurrent infections	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent		8
HP:0001507	HP:0008866	Failure to thrive secondary to recurrent infections	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent		18
HP:0001507	HP:0008866	Failure to thrive secondary to recurrent infections	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent		24
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent		83
HP:0001507	HP:0003510	Severe short stature	4	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0003510	Severe short stature	4	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0001507	HP:0001956	Truncal obesity	4	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		636
HP:0001507	HP:0012743	Abdominal obesity	4	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001507	HP:0003510	Severe short stature	4	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0001507	HP:0004326	Cachexia	4	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0001507	HP:0004326	Cachexia	4	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0001507	HP:0003510	Severe short stature	4	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0001507	HP:0004326	Cachexia	4	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0001507	HP:0011537	Left atrial isomerism	4	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001507	HP:0004326	Cachexia	4	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		1371
HP:0001507	HP:0003502	Mild short stature	4	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.		1
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001507	HP:0003510	Severe short stature	4	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0001525	Severe failure to thrive	4	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		9
HP:0001507	HP:0001525	Severe failure to thrive	4	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		27
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001507	HP:0004326	Cachexia	4	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001507	HP:0001531	Failure to thrive in infancy	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0001531	Failure to thrive in infancy	4	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0001507	HP:0001531	Failure to thrive in infancy	4	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0001507	HP:0003502	Mild short stature	4	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent		79
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001507	HP:0003510	Severe short stature	4	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0001507	HP:0003502	Mild short stature	4	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0001507	HP:0003510	Severe short stature	4	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent		284
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent		284
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001507	HP:0003510	Severe short stature	4	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040281 - Very frequent		284
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0001507	HP:0003510	Severe short stature	4	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent		284
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent		284
HP:0001507	HP:0003502	Mild short stature	4	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.		110
HP:0001507	HP:0003502	Mild short stature	4	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	.		137
HP:0001507	HP:0003502	Mild short stature	4	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0001507	HP:0003510	Severe short stature	4	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040281 - Very frequent		89
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0001507	HP:0001531	Failure to thrive in infancy	4	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0001507	HP:0001531	Failure to thrive in infancy	4	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001507	HP:0003510	Severe short stature	4	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0001507	HP:0001956	Truncal obesity	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001507	HP:0003510	Severe short stature	4	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		15
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent		17
HP:0001507	HP:0003510	Severe short stature	4	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0001531	Failure to thrive in infancy	4	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0001507	HP:0003510	Severe short stature	4	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.		51
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0012743	Abdominal obesity	4	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0001507	HP:0004326	Cachexia	4	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0001507	HP:0003510	Severe short stature	4	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001507	HP:0001531	Failure to thrive in infancy	4	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0001507	HP:0003510	Severe short stature	4	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001507	HP:0001956	Truncal obesity	4	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0003510	Severe short stature	4	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0003510	Severe short stature	4	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	HP:0040283 - Occasional		3
HP:0001507	HP:0001531	Failure to thrive in infancy	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0003510	Severe short stature	4	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0001507	HP:0003502	Mild short stature	4	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.		3
HP:0001507	HP:0003510	Severe short stature	4	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0001507	HP:0003510	Severe short stature	4	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0001507	HP:0003510	Severe short stature	4	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040281 - Very frequent		65
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		304
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001507	HP:0001531	Failure to thrive in infancy	4	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent		134
HP:0001507	HP:0001531	Failure to thrive in infancy	4	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7	.		134
HP:0001507	HP:0001956	Truncal obesity	4	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.		7
HP:0001507	HP:0012743	Abdominal obesity	4	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.		7
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		13
HP:0001507	HP:0001531	Failure to thrive in infancy	4	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		67
HP:0001507	HP:0001531	Failure to thrive in infancy	4	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		55
HP:0001507	HP:0001531	Failure to thrive in infancy	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0001507	HP:0001956	Truncal obesity	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001507	HP:0003510	Severe short stature	4	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		77
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		12
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0001507	HP:0004326	Cachexia	4	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0001507	HP:0004326	Cachexia	4	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0001507	HP:0004326	Cachexia	4	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0001507	HP:0003510	Severe short stature	4	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0001507	HP:0004326	Cachexia	4	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0001507	HP:0004326	Cachexia	4	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0001507	HP:0001525	Severe failure to thrive	4	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0001507	HP:0003510	Severe short stature	4	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0001507	HP:0003510	Severe short stature	4	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0001507	HP:0003510	Severe short stature	4	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040281 - Very frequent		92
HP:0001507	HP:0003502	Mild short stature	4	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		209
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0001507	HP:0003502	Mild short stature	4	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.		209
HP:0001507	HP:0003502	Mild short stature	4	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent		137
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0001507	HP:0003502	Mild short stature	4	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.		137
HP:0001507	HP:0004326	Cachexia	4	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0001507	HP:0003510	Severe short stature	4	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0001507	HP:0003510	Severe short stature	4	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		1361
HP:0001507	HP:0003510	Severe short stature	4	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0001507	HP:0001531	Failure to thrive in infancy	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001507	HP:0003502	Mild short stature	4	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0001507	HP:0001531	Failure to thrive in infancy	4	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent		172
HP:0001507	HP:0003510	Severe short stature	4	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040281 - Very frequent		172
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001507	HP:0003510	Severe short stature	4	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001507	HP:0001525	Severe failure to thrive	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0001507	HP:0001525	Severe failure to thrive	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001507	HP:0001531	Failure to thrive in infancy	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001507	HP:0001531	Failure to thrive in infancy	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001531	Failure to thrive in infancy	4	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III			233
HP:0001507	HP:0003510	Severe short stature	4	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.		233
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0001507	HP:0001956	Truncal obesity	4	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent		30
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0001507	HP:0001531	Failure to thrive in infancy	4	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0001507	HP:0001531	Failure to thrive in infancy	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent		32
HP:0001507	HP:0004326	Cachexia	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0001507	HP:0004326	Cachexia	4	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0001507	HP:0003510	Severe short stature	4	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001507	HP:0004326	Cachexia	4	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0001507	HP:0004326	Cachexia	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001507	HP:0011536	Right atrial isomerism	4	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent		52
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.		52
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0001507	HP:0001531	Failure to thrive in infancy	4	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		59
HP:0001507	HP:0004326	Cachexia	4	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001507	HP:0003510	Severe short stature	4	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA	.		50
HP:0001507	HP:0003510	Severe short stature	4	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II	.		50
HP:0001507	HP:0001956	Truncal obesity	4	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent		98
HP:0001507	HP:0003510	Severe short stature	4	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	.		98
HP:0001507	HP:0003510	Severe short stature	4	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent		98
HP:0001507	HP:0003510	Severe short stature	4	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4			44
HP:0001507	HP:0001956	Truncal obesity	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001507	HP:0001956	Truncal obesity	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001507	HP:0003510	Severe short stature	4	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001507	HP:0003510	Severe short stature	4	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0001507	HP:0003510	Severe short stature	4	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0001507	HP:0001956	Truncal obesity	4	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0001507	HP:0012743	Abdominal obesity	4	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0001507	HP:0003510	Severe short stature	4	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		52
HP:0001507	HP:0003510	Severe short stature	4	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0001507	HP:0001531	Failure to thrive in infancy	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0001507	HP:0001531	Failure to thrive in infancy	4	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0001507	HP:0001531	Failure to thrive in infancy	4	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0001507	HP:0001531	Failure to thrive in infancy	4	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0001507	HP:0003510	Severe short stature	4	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0001507	HP:0001956	Truncal obesity	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001507	HP:0001956	Truncal obesity	4	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0001507	HP:0001956	Truncal obesity	4	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0001507	HP:0001531	Failure to thrive in infancy	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001507	HP:0012743	Abdominal obesity	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.		38
HP:0001507	HP:0003510	Severe short stature	4	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0003510	Severe short stature	4	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0001507	HP:0008848	Moderately short stature	4	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.		25
HP:0001507	HP:0001531	Failure to thrive in infancy	4	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001507	HP:0001531	Failure to thrive in infancy	4	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001507	HP:0003510	Severe short stature	4	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001507	HP:0003510	Severe short stature	4	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040282 - Frequent		345
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0001507	HP:0004326	Cachexia	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001507	HP:0001525	Severe failure to thrive	4	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0001507	HP:0003502	Mild short stature	4	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0001507	HP:0003510	Severe short stature	4	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2			65
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		65
HP:0001507	HP:0001956	Truncal obesity	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0001507	HP:0001956	Truncal obesity	4	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001507	HP:0001956	Truncal obesity	4	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040282 - Frequent		53
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia	.		44
HP:0001507	HP:0001531	Failure to thrive in infancy	4	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001507	HP:0001531	Failure to thrive in infancy	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0001507	HP:0008866	Failure to thrive secondary to recurrent infections	4	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	.		94
HP:0001507	HP:0001956	Truncal obesity	4	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0001507	HP:0001956	Truncal obesity	4	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent		111
HP:0001507	HP:0003510	Severe short stature	4	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0003510	Severe short stature	4	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent		18
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0001507	HP:0001525	Severe failure to thrive	4	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0001507	HP:0001531	Failure to thrive in infancy	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0012743	Abdominal obesity	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0001507	HP:0001531	Failure to thrive in infancy	4	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0001507	HP:0001531	Failure to thrive in infancy	4	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		4
HP:0001507	HP:0004326	Cachexia	4	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0001507	HP:0001531	Failure to thrive in infancy	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent		3
HP:0001507	HP:0004326	Cachexia	4	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare		57
HP:0001507	HP:0001531	Failure to thrive in infancy	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional		140
HP:0001507	HP:0003510	Severe short stature	4	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0001507	HP:0003510	Severe short stature	4	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0001507	HP:0001531	Failure to thrive in infancy	4	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001507	HP:0001531	Failure to thrive in infancy	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001507	HP:0003510	Severe short stature	4	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0001507	HP:0001956	Truncal obesity	4	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001507	HP:0003502	Mild short stature	4	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001507	HP:0003502	Mild short stature	4	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0004326	Cachexia	4	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004326	Cachexia	4	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent		73
HP:0001507	HP:0012743	Abdominal obesity	4	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.		7
HP:0001507	HP:0004326	Cachexia	4	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional		645
HP:0001507	HP:0001525	Severe failure to thrive	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		645
HP:0001507	HP:0004326	Cachexia	4	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0001507	HP:0003510	Severe short stature	4	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		12
HP:0001507	HP:0001531	Failure to thrive in infancy	4	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0001507	HP:0003510	Severe short stature	4	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0001507	HP:0004326	Cachexia	4	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent		63
HP:0001507	HP:0012743	Abdominal obesity	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001507	HP:0012743	Abdominal obesity	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.		63
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0001507	HP:0001956	Truncal obesity	4	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0001507	HP:0001956	Truncal obesity	4	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0001507	HP:0003510	Severe short stature	4	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0003502	Mild short stature	4	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent		32
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.		32
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040282 - Frequent		32
HP:0001507	HP:0003510	Severe short stature	4	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0001507	HP:0003510	Severe short stature	4	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.		22
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0001507	HP:0001956	Truncal obesity	4	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040282 - Frequent		81
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040282 - Frequent		77
HP:0001507	HP:0004326	Cachexia	4	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0001507	HP:0001956	Truncal obesity	4	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive	.		45
HP:0001507	HP:0003510	Severe short stature	4	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1			45
HP:0001507	HP:0001531	Failure to thrive in infancy	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001507	HP:0012743	Abdominal obesity	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.		5
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0012743	Abdominal obesity	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0001507	HP:0004326	Cachexia	4	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare		97
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0001507	HP:0012743	Abdominal obesity	4	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1	.		81
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0001507	HP:0001531	Failure to thrive in infancy	4	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001507	HP:0001525	Severe failure to thrive	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0001507	HP:0004326	Cachexia	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0001507	HP:0004326	Cachexia	4	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0001507	HP:0001531	Failure to thrive in infancy	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0001507	HP:0004326	Cachexia	4	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0001507	HP:0001531	Failure to thrive in infancy	4	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001507	HP:0003510	Severe short stature	4	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0001507	HP:0003510	Severe short stature	4	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001507	HP:0001531	Failure to thrive in infancy	4	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		7
HP:0001507	HP:0001531	Failure to thrive in infancy	4	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		11
HP:0001507	HP:0003510	Severe short stature	4	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0001507	HP:0001956	Truncal obesity	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001507	HP:0012743	Abdominal obesity	4	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0001507	HP:0011536	Right atrial isomerism	4	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001507	HP:0001531	Failure to thrive in infancy	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001507	HP:0012743	Abdominal obesity	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.		1
HP:0001507	HP:0001956	Truncal obesity	4	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		79
HP:0001507	HP:0012743	Abdominal obesity	4	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001507	HP:0001531	Failure to thrive in infancy	4	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		4
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0001507	HP:0003510	Severe short stature	4	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001507	HP:0001531	Failure to thrive in infancy	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0001507	HP:0004326	Cachexia	4	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0003510	Severe short stature	4	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0001507	HP:0003510	Severe short stature	4	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0001507	HP:0003510	Severe short stature	4	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0001507	HP:0003510	Severe short stature	4	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0001507	HP:0001531	Failure to thrive in infancy	4	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0001507	HP:0001956	Truncal obesity	4	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0001507	HP:0001956	Truncal obesity	4	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0001507	HP:0004326	Cachexia	4	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0001507	HP:0001956	Truncal obesity	4	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0001507	HP:0003510	Severe short stature	4	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0001507	HP:0012743	Abdominal obesity	4	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001507	HP:0001956	Truncal obesity	4	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0001507	HP:0012743	Abdominal obesity	4	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001507	HP:0003502	Mild short stature	4	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040283 - Occasional		113
HP:0001507	HP:0003502	Mild short stature	4	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		113
HP:0001507	HP:0012743	Abdominal obesity	4	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001507	HP:0001525	Severe failure to thrive	4	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0001507	HP:0003510	Severe short stature	4	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0001507	HP:0001956	Truncal obesity	4	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0001507	HP:0003510	Severe short stature	4	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0001507	HP:0001956	Truncal obesity	4	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001507	HP:0003510	Severe short stature	4	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent		43
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0004326	Cachexia	4	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0003510	Severe short stature	4	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0001531	Failure to thrive in infancy	4	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0001507	HP:0003510	Severe short stature	4	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0001507	HP:0004326	Cachexia	4	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0001507	HP:0004326	Cachexia	4	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0001507	HP:0004326	Cachexia	4	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		464
HP:0001507	HP:0001956	Truncal obesity	4	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.		39
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0012743	Abdominal obesity	4	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0001507	HP:0003502	Mild short stature	4	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		134
HP:0001507	HP:0012743	Abdominal obesity	4	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001507	HP:0001956	Truncal obesity	4	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0001507	HP:0012743	Abdominal obesity	4	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001507	HP:0001525	Severe failure to thrive	4	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0001507	HP:0004326	Cachexia	4	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent		27
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0001507	HP:0001956	Truncal obesity	4	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		4
HP:0001507	HP:0003510	Severe short stature	4	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001507	HP:0003510	Severe short stature	4	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0001507	HP:0004326	Cachexia	4	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0001507	HP:0004326	Cachexia	4	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0001507	HP:0004326	Cachexia	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001507	HP:0003510	Severe short stature	4	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	HP:0003593 - Infantile onset	58
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0012743	Abdominal obesity	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0012743	Abdominal obesity	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0001507	HP:0003510	Severe short stature	4	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		53
HP:0001507	HP:0001531	Failure to thrive in infancy	4	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.		53
HP:0001507	HP:0001531	Failure to thrive in infancy	4	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C			9
HP:0001507	HP:0001956	Truncal obesity	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001507	HP:0008866	Failure to thrive secondary to recurrent infections	4	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		127
HP:0001507	HP:0008866	Failure to thrive secondary to recurrent infections	4	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		50
HP:0001507	HP:0001531	Failure to thrive in infancy	4	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent		150
HP:0001507	HP:0001531	Failure to thrive in infancy	4	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0001507	HP:0004326	Cachexia	4	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0001507	HP:0001531	Failure to thrive in infancy	4	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent		445
HP:0001507	HP:0001531	Failure to thrive in infancy	4	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		572
HP:0001507	HP:0001531	Failure to thrive in infancy	4	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.		572
HP:0001507	HP:0001531	Failure to thrive in infancy	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0003510	Severe short stature	4	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001507	HP:0001956	Truncal obesity	4	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0001507	HP:0012743	Abdominal obesity	4	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0001507	HP:0003510	Severe short stature	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent		120
HP:0001507	HP:0003510	Severe short stature	4	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0001507	HP:0004326	Cachexia	4	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0001507	HP:0004326	Cachexia	4	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		125
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0001507	HP:0001956	Truncal obesity	4	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001507	HP:0001525	Severe failure to thrive	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0001507	HP:0003510	Severe short stature	4	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0001507	HP:0003502	Mild short stature	4	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	.		113
HP:0001507	HP:0008848	Moderately short stature	4	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0001507	HP:0003510	Severe short stature	4	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040281 - Very frequent		86
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent		67
HP:0001507	HP:0004326	Cachexia	4	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		67
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent		61
HP:0001507	HP:0004326	Cachexia	4	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		61
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent		57
HP:0001507	HP:0004326	Cachexia	4	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		57
HP:0001507	HP:0003510	Severe short stature	4	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001507	HP:0003510	Severe short stature	4	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001507	HP:0003510	Severe short stature	4	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001507	HP:0003510	Severe short stature	4	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001507	HP:0008848	Moderately short stature	4	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		2
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0001507	HP:0003510	Severe short stature	4	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0001507	HP:0003510	Severe short stature	4	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent		66
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia			66
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent		66
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent		66
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis			66
HP:0001507	HP:0004326	Cachexia	4	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001507	HP:0003510	Severe short stature	4	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0001507	HP:0012743	Abdominal obesity	4	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0001507	HP:0001956	Truncal obesity	4	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent		82
HP:0001507	HP:0003510	Severe short stature	4	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0001507	HP:0008848	Moderately short stature	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent		166
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0001507	HP:0008848	Moderately short stature	4	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.		24
HP:0001507	HP:0008848	Moderately short stature	4	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		24
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040282 - Frequent		11
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0001507	HP:0004326	Cachexia	4	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent		122
HP:0001507	HP:0001956	Truncal obesity	4	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0001507	HP:0004326	Cachexia	4	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0001507	HP:0003510	Severe short stature	4	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0001507	HP:0003502	Mild short stature	4	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0001507	HP:0003510	Severe short stature	4	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent		146
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0001507	HP:0001956	Truncal obesity	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001507	HP:0001956	Truncal obesity	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		22
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0012743	Abdominal obesity	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001507	HP:0012743	Abdominal obesity	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	HP:0003577 - Congenital onset	109
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent		49
HP:0001507	HP:0004326	Cachexia	4	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001507	HP:0004326	Cachexia	4	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0001507	HP:0001531	Failure to thrive in infancy	4	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0001507	HP:0003510	Severe short stature	4	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001507	HP:0004326	Cachexia	4	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0001507	HP:0001531	Failure to thrive in infancy	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0004326	Cachexia	4	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0001507	HP:0003510	Severe short stature	4	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040281 - Very frequent		19
HP:0001507	HP:0003510	Severe short stature	4	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.		19
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5			19
HP:0001507	HP:0003510	Severe short stature	4	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0001507	HP:0004326	Cachexia	4	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare		3
HP:0001507	HP:0004326	Cachexia	4	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent		13
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001507	HP:0001956	Truncal obesity	4	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		12
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0001507	HP:0001531	Failure to thrive in infancy	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040281 - Very frequent
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0001507	HP:0001956	Truncal obesity	4	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		911
HP:0001507	HP:0012743	Abdominal obesity	4	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001507	HP:0004326	Cachexia	4	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent		46
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0001507	HP:0001956	Truncal obesity	4	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional		158
HP:0001507	HP:0004326	Cachexia	4	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent		78
HP:0001507	HP:0003510	Severe short stature	4	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0001507	HP:0004326	Cachexia	4	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy	HP:0040281 - Very frequent		214
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3			214
HP:0001507	HP:0003510	Severe short stature	4	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent		214
HP:0001507	HP:0003510	Severe short stature	4	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001507	HP:0003510	Severe short stature	4	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.		214
HP:0001507	HP:0003510	Severe short stature	4	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.		214
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040281 - Very frequent		214
HP:0001507	HP:0004326	Cachexia	4	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0001507	HP:0004326	Cachexia	4	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		138
HP:0001507	HP:0001531	Failure to thrive in infancy	4	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0004326	Cachexia	4	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0001507	HP:0001525	Severe failure to thrive	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0001507	HP:0004326	Cachexia	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0001507	HP:0001956	Truncal obesity	4	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		1
HP:0001507	HP:0012743	Abdominal obesity	4	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001507	HP:0001956	Truncal obesity	4	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		7
HP:0001507	HP:0012743	Abdominal obesity	4	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001507	HP:0012743	Abdominal obesity	4	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0001507	HP:0001525	Severe failure to thrive	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0001507	HP:0001531	Failure to thrive in infancy	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001507	HP:0001956	Truncal obesity	4	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001507	HP:0001531	Failure to thrive in infancy	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001507	HP:0001956	Truncal obesity	4	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		136
HP:0001507	HP:0003510	Severe short stature	4	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0001507	HP:0004326	Cachexia	4	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional		177
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0001507	HP:0001956	Truncal obesity	4	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	HP:0040283 - Occasional		9
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001507	HP:0001956	Truncal obesity	4	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0003510	Severe short stature	4	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0001507	HP:0003510	Severe short stature	4	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0001507	HP:0008873	Disproportionate short-limb short stature	4	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0001507	HP:0001956	Truncal obesity	4	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional		14
HP:0001507	HP:0003521	Disproportionate short-trunk short stature	4	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0001507	HP:0001531	Failure to thrive in infancy	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001507	HP:0001956	Truncal obesity	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0001507	HP:0001525	Severe failure to thrive	4	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.		30
HP:0001507	HP:0011536	Right atrial isomerism	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001507	HP:0001525	Severe failure to thrive	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent		83
HP:0001507	HP:0012743	Abdominal obesity	4	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001507	HP:0011404	Lethal short-trunk short stature	5	CL E G H
HP:0001507	HP:0008905	Rhizomelia	5	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0001507	HP:0008905	Rhizomelia	5	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent		34
HP:0001507	HP:0008905	Rhizomelia	5	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.		117
HP:0001507	HP:0008905	Rhizomelia	5	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0001507	HP:0008905	Rhizomelia	5	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001507	HP:0008905	Rhizomelia	5	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0001507	HP:0008905	Rhizomelia	5	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001507	HP:0008905	Rhizomelia	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		5
HP:0001507	HP:0008905	Rhizomelia	5	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0001507	HP:0008905	Rhizomelia	5	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001507	HP:0011406	Infancy onset short-trunk short stature	5	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0001507	HP:0011406	Infancy onset short-trunk short stature	5	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0001507	HP:0008905	Rhizomelia	5	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0001507	HP:0008905	Rhizomelia	5	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001507	HP:0008905	Rhizomelia	5	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0001507	HP:0008905	Rhizomelia	5	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0001507	HP:0008905	Rhizomelia	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		165
HP:0001507	HP:0008905	Rhizomelia	5	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0001507	HP:0008905	Rhizomelia	5	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001507	HP:0008905	Rhizomelia	5	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0001507	HP:0008905	Rhizomelia	5	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001507	HP:0008905	Rhizomelia	5	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040281 - Very frequent		215
HP:0001507	HP:0008905	Rhizomelia	5	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0001507	HP:0008905	Rhizomelia	5	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0001507	HP:0008905	Rhizomelia	5	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.		284
HP:0001507	HP:0008857	Neonatal short-trunk short stature	5	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0001507	HP:0011405	Childhood onset short-limb short stature	5	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia	.		89
HP:0001507	HP:0008905	Rhizomelia	5	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.		4
HP:0001507	HP:0008905	Rhizomelia	5	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0001507	HP:0008905	Rhizomelia	5	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0001507	HP:0008905	Rhizomelia	5	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0001507	HP:0008905	Rhizomelia	5	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001507	HP:0008905	Rhizomelia	5	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0001507	HP:0008905	Rhizomelia	5	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0001507	HP:0008905	Rhizomelia	5	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0008905	Rhizomelia	5	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0001507	HP:0008905	Rhizomelia	5	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0001507	HP:0008905	Rhizomelia	5	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0001507	HP:0008905	Rhizomelia	5	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent		172
HP:0001507	HP:0008905	Rhizomelia	5	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001507	HP:0008905	Rhizomelia	5	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional		145
HP:0001507	HP:0008905	Rhizomelia	5	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0001507	HP:0008905	Rhizomelia	5	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0001507	HP:0011405	Childhood onset short-limb short stature	5	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040281 - Very frequent		145
HP:0001507	HP:0011405	Childhood onset short-limb short stature	5	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.		145
HP:0001507	HP:0008909	Lethal short-limbed short stature	5	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0001507	HP:0008909	Lethal short-limbed short stature	5	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0001507	HP:0008909	Lethal short-limbed short stature	5	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0001507	HP:0008857	Neonatal short-trunk short stature	5	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0001507	HP:0008905	Rhizomelia	5	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent		233
HP:0001507	HP:0008905	Rhizomelia	5	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0001507	HP:0008905	Rhizomelia	5	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.		233
HP:0001507	HP:0008890	Severe short-limb dwarfism	5	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent		233
HP:0001507	HP:0008905	Rhizomelia	5	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0001507	HP:0008905	Rhizomelia	5	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0001507	HP:0008890	Severe short-limb dwarfism	5	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent		52
HP:0001507	HP:0008890	Severe short-limb dwarfism	5	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.		52
HP:0001507	HP:0008905	Rhizomelia	5	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly			52
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0001507	HP:0008905	Rhizomelia	5	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0001507	HP:0008905	Rhizomelia	5	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent		99
HP:0001507	HP:0008905	Rhizomelia	5	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0001507	HP:0008905	Rhizomelia	5	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001507	HP:0008905	Rhizomelia	5	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0001507	HP:0008905	Rhizomelia	5	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0001507	HP:0008905	Rhizomelia	5	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0001507	HP:0008905	Rhizomelia	5	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent		2
HP:0001507	HP:0008905	Rhizomelia	5	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0001507	HP:0008905	Rhizomelia	5	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		93
HP:0001507	HP:0008905	Rhizomelia	5	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001507	HP:0008905	Rhizomelia	5	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0001507	HP:0008905	Rhizomelia	5	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		4
HP:0001507	HP:0008905	Rhizomelia	5	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2	.		65
HP:0001507	HP:0008915	Childhood-onset truncal obesity	5	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0001507	HP:0008905	Rhizomelia	5	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0001507	HP:0008905	Rhizomelia	5	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0001507	HP:0008857	Neonatal short-trunk short stature	5	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0001507	HP:0008905	Rhizomelia	5	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0001507	HP:0008905	Rhizomelia	5	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.		5
HP:0001507	HP:0008890	Severe short-limb dwarfism	5	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0001507	HP:0008890	Severe short-limb dwarfism	5	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001507	HP:0008905	Rhizomelia	5	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0001507	HP:0008905	Rhizomelia	5	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.		70
HP:0001507	HP:0008905	Rhizomelia	5	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0001507	HP:0008905	Rhizomelia	5	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional		5
HP:0001507	HP:0008905	Rhizomelia	5	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.		22
HP:0001507	HP:0008915	Childhood-onset truncal obesity	5	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040282 - Frequent		54
HP:0001507	HP:0008905	Rhizomelia	5	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0001507	HP:0008905	Rhizomelia	5	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0001507	HP:0008905	Rhizomelia	5	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0001507	HP:0008905	Rhizomelia	5	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001507	HP:0008890	Severe short-limb dwarfism	5	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0008915	Childhood-onset truncal obesity	5	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent		65
HP:0001507	HP:0008905	Rhizomelia	5	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0001507	HP:0008905	Rhizomelia	5	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0001507	HP:0008905	Rhizomelia	5	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0001507	HP:0008905	Rhizomelia	5	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001507	HP:0008905	Rhizomelia	5	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0001507	HP:0008915	Childhood-onset truncal obesity	5	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent		27
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001507	HP:0008905	Rhizomelia	5	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001507	HP:0008905	Rhizomelia	5	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001507	HP:0008905	Rhizomelia	5	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0001507	HP:0011406	Infancy onset short-trunk short stature	5	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001507	HP:0008905	Rhizomelia	5	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.		37
HP:0001507	HP:0008905	Rhizomelia	5	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.		37
HP:0001507	HP:0008845	Mesomelic short stature	5	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.		66
HP:0001507	HP:0008905	Rhizomelia	5	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia			66
HP:0001507	HP:0008905	Rhizomelia	5	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0001507	HP:0008905	Rhizomelia	5	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent		166
HP:0001507	HP:0008905	Rhizomelia	5	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0001507	HP:0008921	Neonatal short-limb short stature	5	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0001507	HP:0008905	Rhizomelia	5	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0001507	HP:0008905	Rhizomelia	5	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0001507	HP:0008845	Mesomelic short stature	5	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0001507	HP:0008922	Childhood-onset short-trunk short stature	5	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.		214
HP:0001507	HP:0008915	Childhood-onset truncal obesity	5	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0001507	HP:0008905	Rhizomelia	5	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		95
HP:0001507	HP:0008905	Rhizomelia	5	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.		95
HP:0001507	HP:0008905	Rhizomelia	5	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		136
HP:0001507	HP:0008905	Rhizomelia	5	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001507	HP:0008905	Rhizomelia	5	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0001507	HP:0008890	Severe short-limb dwarfism	5	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		9
HP:0001507	HP:0005069	Rhizo-meso-acromelic limb shortening	6	CL E G H
HP:0001507	HP:0005026	Mesomelic/rhizomelic limb shortening	6	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0001507	HP:0012106	Rhizomelic leg shortening	6	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent		3
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0001507	HP:0012106	Rhizomelic leg shortening	6	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0001507	HP:0005026	Mesomelic/rhizomelic limb shortening	6	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent		66
HP:0001507	HP:0004991	Rhizomelic arm shortening	6	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent		166

Genes (2562) :AAAS AARS1 AARS2 AASS ABAT ABCA12 ABCA3 ABCA4 ABCB11 ABCB4 ABCB6 ABCB7 ABCC6 ABCC8 ABCC9 ABCD1 ABCD4 ABHD5 ABL1 ACACA ACAD9 ACADM ACADS ACADVL ACAN ACAT1 ACD ACER3 ACO2 ACOX1 ACP5 ACSF3 ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACTL6B ACVR1 ADA ADA2 ADAM17 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADARB1 ADAT3 ADCY3 ADCY5 ADGRG1 ADGRG6 ADGRL1 ADH5 ADK ADNP ADRB2 ADRB3 ADSL AFF2 AFF3 AFF4 AGA AGBL5 AGGF1 AGK AGL AGPAT2 AGPS AGRP AGTPBP1 AGXT AHCY AHDC1 AHI1 AHR AHSG AIFM1 AIMP1 AIMP2 AIP AK2 AKR1D1 AKT1 AKT2 ALAD ALB ALDH18A1 ALDH3A2 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ALS2 ALX4 AMACR AMER1 AMMECR1 AMN AMPD2 ANAPC1 ANK1 ANK3 ANKLE2 ANKRD11 ANKRD17 ANKRD55 ANO1 ANOS1 ANTXR1 ANTXR2 AP1B1 AP1S1 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APOE APPL1 AQP2 AR ARCN1 ARFGEF2 ARG1 ARHGAP31 ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARL6IP6 ARMC5 ARNT2 ARPC1B ARPC4 ARSB ARSK ARSL ARV1 ARVCF ARX ASAH1 ASCL1 ASH1L ASL ASNS ASPM ASPRV1 ASS1 ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATL1 ATM ATP10A ATP11A ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP6 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATP8B1 ATPAF2 ATR ATRIP ATRX ATXN7 AUH AUTS2 AVP AVPR2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCAS3 BCKDHA BCKDHB BCL10 BCL2 BCL6 BCL7B BCOR BCR BCS1L BDNF BEST1 BGN BICRA BIN1 BIRC3 BLK BLM BLNK BMP1 BMP15 BMP2 BMP4 BMP6 BMPER BMPR1A BMPR1B BNC1 BNC2 BPNT2 BPTF BRAF BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BRPF1 BSCL2 BSND BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C18ORF32 C1R C1S C2ORF69 C4A CA12 CA2 CA4 CA8 CACNA1A CACNA1B CACNA1C CACNA1S CACNA2D1 CALR CAMK2A CAMK2B CAMK2G CAMKMT CAMTA1 CANT1 CAPN15 CARMIL2 CARS1 CARS2 CARTPT CASK CASP8 CASR CASZ1 CAV1 CAVIN1 CBL CBS CCBE1 CCDC134 CCDC141 CCDC22 CCDC28B CCDC32 CCDC39 CCDC47 CCDC8 CCN6 CCND1 CCNQ CCR1 CD19 CD244 CD247 CD3D CD3E CD3G CD40LG CD46 CD55 CD79A CD79B CD81 CD96 CDAN1 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH23 CDH3 CDHR1 CDIN1 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CDT1 CEACAM3 CEACAM6 CEL CELA2A CELF2 CENPE CENPJ CENPT CEP120 CEP135 CEP152 CEP164 CEP19 CEP290 CEP57 CEP63 CERKL CERS3 CFAP410 CFAP418 CFAP52 CFAP53 CFC1 CFH CFI CFTR CHCHD10 CHD1 CHD4 CHD7 CHD8 CHEK2 CHKA CHP1 CHRM3 CHRNA1 CHRNA3 CHRNA7 CHRND CHRNG CHST11 CHST14 CHST3 CHSY1 CIC CIITA CIROP CISD2 CIT CITED2 CKAP2L CLCA4 CLCN3 CLCN5 CLCN7 CLCNKA CLCNKB CLDN16 CLIP2 CLMP CLP1 CLPB CLPP CLRN1 CLTC CLTCL1 CLTRN CNGA1 CNGB1 CNKSR2 CNOT1 CNTN1 CNTNAP1 CNTNAP2 COA3 COA8 COG1 COG4 COG5 COG6 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL17A1 COL1A1 COL1A2 COL27A1 COL2A1 COL3A1 COL4A2 COL4A5 COL4A6 COL5A1 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMP COMT COPB1 COPB2 COQ2 COQ4 COQ7 COQ9 CORIN COX1 COX10 COX15 COX16 COX2 COX20 COX3 COX4I1 COX4I2 COX5A COX6B1 COX7B COX8A CPE CPLANE1 CPLX1 CPS1 CPSF3 CR2 CRB1 CREB3L1 CREBBP CRIPT CRKL CRLF1 CRTAP CRX CSF2RA CSF2RB CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNNB1 CTNNBL1 CTNND2 CTNS CTRC CTSA CTSH CTSK CTU2 CUBN CUL3 CUL4B CUL7 CUX1 CWC27 CYB5A CYB5R3 CYBC1 CYC1 CYFIP2 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2R1 CYP3A4 CYP4F22 CYP7A1 CYP7B1 CYTB DACT1 DALRD3 DAXX DBR1 DBT DCAF17 DCC DCHS1 DCLRE1C DCTN1 DCTN4 DCX DDB1 DDB2 DDHD2 DDOST DDR2 DDRGK1 DDX11 DDX3X DDX6 DEAF1 DEF6 DEGS1 DGAT1 DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHODH DHPS DHX37 DHX38 DIAPH1 DICER1 DIS3L2 DISP1 DKC1 DLD DLG4 DLK1 DLL1 DLL3 DLL4 DLST DLX5 DMP1 DMPK DMRT3 DMXL2 DNA2 DNAH9 DNAJC13 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNASE2 DNM1 DNM1L DNM2 DNMT3A DNMT3B DOCK2 DOCK3 DOCK6 DOCK8 DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPP6 DPYD DPYS DPYSL5 DSE DSG1 DSP DST DSTYK DTYMK DUOXA2 DUSP6 DVL1 DVL3 DYM DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A DYRK1B DZIP1L EARS2 EBF3 EBP ECE1 ECEL1 ECHS1 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EFL1 EFNB1 EFTUD2 EGFR EHHADH EHMT1 EIF2AK3 EIF2S3 EIF3F EIF4A3 EIF4G1 EIF4H EIF5A ELAC2 ELANE ELF4 ELMO2 ELN ELOVL4 ELP1 ELP2 EMD EMG1 EN1 ENG ENPP1 ENTPD1 EOGT EP300 EPAS1 EPB41 EPB41L1 EPB42 EPCAM EPG5 EPRS1 ERAP1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERMARD ESCO2 ESR1 ESR2 ESS2 ETHE1 EVC EVC2 EWSR1 EXOC6B EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 F5 FAH FAM111A FAM111B FAM149B1 FAM161A FAM20A FAM20C FAM50A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FAS FAT4 FBLN5 FBN1 FBN2 FBXL3 FBXL4 FBXO11 FCGR2A FCHO1 FDFT1 FDXR FEZF1 FGD1 FGF12 FGF13 FGF17 FGF23 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FIBP FIG4 FIP1L1 FKBP10 FKBP14 FKBP6 FKTN FLCN FLI1 FLII FLNA FLNB FLNC FLRT3 FLT1 FLT4 FLVCR2 FMR1 FN1 FOCAD FOS FOXA2 FOXC1 FOXE1 FOXE3 FOXG1 FOXH1 FOXJ1 FOXP1 FOXP3 FOXRED1 FRMD4A FSCN2 FSHB FSHR FTCD FTO FUCA1 FUS FUT8 FXR1 FZD2 FZD4 FZR1 G6PC1 G6PC3 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRD GABRG2 GALC GALE GALK1 GALM GALNS GALNT2 GALT GARS1 GAS1 GATA1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD2B GATB GATC GATM GBA1 GBE1 GCDH GCK GCLC GDF1 GDF5 GDNF GEMIN4 GFAP GFM1 GFM2 GGPS1 GH1 GHR GHRHR GHRL GHSR GIGYF2 GINS1 GIPC1 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GK GLA GLB1 GLE1 GLI1 GLI2 GLI3 GLIS3 GLUD1 GLYCTK GM2A GMNN GMPPA GNA11 GNAI1 GNAO1 GNAQ GNAS GNAS-AS1 GNB1 GNB2 GNPAT GNPTAB GNPTG GNRH1 GNRHR GNS GORAB GOT2 GP1BB GPC3 GPC4 GPC6 GPD1 GPD2 GPIHBP1 GPKOW GPR101 GPR161 GPR35 GPT2 GPX4 GRB10 GRHL2 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2D GRM1 GRM7 GSC GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GUCA1B GUCY2D GUF1 GUSB GYPC GYS2 GZF1 H19 H19-ICR H3-3B H4C11 H4C3 H4C5 H6PD HAAO HACD1 HACE1 HADH HADHA HADHB HAVCR2 HBA1 HBA2 HBB HCCS HCFC1 HCN1 HCRT HDAC4 HDAC6 HDAC8 HEATR3 HELLPAR HELLS HERC1 HERC2 HES7 HESX1 HEXB HEY2 HFE HGD HGSNAT HHAT HIBCH HIC1 HIKESHI HIRA HIVEP2 HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGA1 HMGA2 HMGB3 HMGCL HMOX1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXD13 HPD HPDL HPGD HPRT1 HRAS HS2ST1 HS6ST1 HSD11B1 HSD11B2 HSD17B4 HSD3B2 HSD3B7 HSPA9 HSPG2 HTRA2 HTT HUWE1 HYAL1 HYLS1 HYMAI HYOU1 IARS1 IARS2 IBA57 ICOS IDH1 IDH2 IDH3A IDH3B IDS IDUA IFIH1 IFITM5 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT88 IGBP1 IGF1 IGF1R IGF2 IGF2BP2 IGFALS IGH IGHM IGHMBP2 IGLL1 IGSF1 IHH IKBKB IKBKG IKZF1 IL10 IL10RA IL11RA IL12A IL12A-AS1 IL12B IL17RD IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INPPL1 INS INSR INTS1 INTS8 INTU INVS IPO8 IPW IQCB1 IQSEC1 IQSEC2 IRF2BP2 IRF4 IRF6 IRF8 IRS1 IRS2 IRS4 ISCA1 ITCH ITGA7 ITGB4 ITGB6 ITPA IYD JAG1 JAGN1 JAK1 JAK2 JAK3 JAM2 JMJD1C JPH3 JUP KANSL1 KARS1 KAT6A KAT6B KATNB1 KATNIP KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC3 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNJ6 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KDELR2 KDM1A KDM3B KDM5C KDM6A KDR KDSR KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF1B KIF1C KIF20A KIF22 KIF23 KIF2A KIF5C KIF7 KIFBP KISS1 KISS1R KIT KIZ KLF1 KLF11 KLHL41 KLHL7 KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT5B KNL1 KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KYNU L1CAM LAGE3 LAMA2 LAMA3 LAMA5 LAMB3 LAMC2 LAMTOR2 LARGE1 LARP7 LARS1 LARS2 LAS1L LAT LBR LCK LEMD2 LEMD3 LEP LEPR LETM1 LFNG LGI3 LGR4 LHB LHCGR LHX1 LHX3 LHX4 LIAS LIFR LIG1 LIG3 LIG4 LIMK1 LINS1 LIPA LIPC LIPE LIPN LIPT1 LMBR1 LMBRD1 LMNA LMNB1 LMX1B LONP1 LOX LOXL3 LPIN2 LRAT LRBA LRP12 LRP4 LRP5 LRPPRC LRRC32 LRRC8A LRRK1 LRRK2 LSM11 LSS LTBP1 LTBP2 LTBP3 LTBP4 LTC4S LUZP1 LYRM4 LYRM7 LYSET LZTFL1 LZTR1 MAB21L2 MACF1 MAD2L2 MADD MAF MAFB MAGEL2 MAK MALT1 MAMLD1 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MARS2 MASP1 MAST1 MAT2A MATN3 MAX MBD5 MBL2 MBTPS1 MBTPS2 MC2R MC3R MC4R MCCC1 MCCC2 MCEE MCM3AP MCM4 MCM5 MCM7 MCM9 MCPH1 MCTP2 MDH1 MDH2 MDM2 MECP2 MECR MED12 MED13L MED17 MEFV MEG3 MEGF10 MEGF8 MEIS2 MEN1 MERTK MESD MESP2 METTL27 METTL5 MFAP5 MFF MFSD2A MGAT2 MGP MIA3 MICOS13 MICU1 MID1 MIF MIPEP MIR140 MIR17HG MKKS MKRN3 MKRN3-AS1 MKS1 MLH1 MLH3 MLX MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMP1 MMP13 MMP2 MMP21 MMP23B MMP9 MMUT MNX1 MOCS1 MOCS2 MOG MORC2 MPDU1 MPI MPL MPLKIP MPV17 MRAP MRAP2 MRAS MRE11 MRPL12 MRPL3 MRPS14 MRPS16 MRPS2 MRPS22 MRPS25 MRPS28 MRPS7 MS4A1 MSH2 MSH6 MSMO1 MST1 MSTO1 MSX1 MTFMT MTHFR MTHFS MTM1 MTMR14 MTNR1B MTO1 MTOR MTR MTRFR MTRR MTTP MTX2 MUSK MVK MYCN MYF6 MYH11 MYH3 MYH7 MYH8 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO5B MYOD1 MYORG MYPN MYSM1 MYT1L NAA10 NAB2 NABP1 NACC1 NADK2 NAGS NALCN NAT8L NBAS NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCDN NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDN NDNF NDP NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NEK1 NEK2 NEK9 NELFA NEPRO NEU1 NEUROD1 NEUROD2 NEUROG3 NEXMIF NF1 NF2 NFASC NFE2L2 NFIX NFKB1 NFKB2 NFKBIL1 NFU1 NGLY1 NHEJ1 NHLH2 NHLRC2 NHP2 NIN NIPAL4 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NKX3-2 NLRC4 NLRP1 NLRP3 NMNAT1 NNT NOD2 NODAL NOG NONO NOP10 NOS1 NOS3 NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NPHS1 NPM1 NPR2 NPR3 NR0B1 NR0B2 NR1H4 NR2E3 NR2F1 NR3C1 NR3C2 NR5A1 NRAS NRCAM NRL NRTN NSD1 NSD2 NSDHL NSF NSMCE2 NSMCE3 NSMF NSRP1 NSUN2 NSUN3 NTNG1 NTRK1 NTRK2 NUBPL NUDT2 NUMA1 NUP107 NUP133 NUP188 NUP214 NUP62 NUP85 NUP88 NUS1 NXN OBSL1 OCA2 OCLN OCRL ODC1 OFD1 OGDH OGDHL ORAI1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTC OTUD5 OTUD6B OTULIN OTX2 P2RY11 P3H1 P4HA2 P4HB P4HTM PACS1 PAFAH1B1 PAH PAICS PAK3 PALB2 PALLD PAM16 PANK2 PAPPA2 PAPSS2 PARN PARS2 PAX1 PAX2 PAX4 PAX6 PAX8 PBX1 PCARE PCCA PCCB PCDH12 PCGF2 PCLO PCNA PCNT PCSK1 PCYT1A PDE11A PDE3A PDE4D PDE6A PDE6B PDE6D PDE6G PDE8B PDGFB PDGFRB PDHA1 PDHB PDHX PDPN PDSS1 PDSS2 PDX1 PEPD PERCC1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM1 PGM3 PHC1 PHEX PHF21A PHF6 PHGDH PHIP PHKA2 PHKB PHKG2 PHOX2B PI4KA PIEZO1 PIEZO2 PIGA PIGB PIGG PIGH PIGL PIGN PIGO PIGP PIGQ PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3R1 PIK3R2 PISD PITX1 PITX2 PKD1L1 PKDCC PKHD1 PKLR PKP1 PLAA PLAG1 PLAGL1 PLCH1 PLEC PLK4 PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PML PMM2 PMPCA PMPCB PMS1 PMS2 PNKP PNP PNPLA1 PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POF1B POGZ POLA1 POLE POLG POLG2 POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POLR3B POLR3GL POLR3H POLR3K POLRMT POMC POMGNT1 POMP POP1 POR PORCN POU1F1 POU3F4 POU6F2 PPARG PPFIBP1 PPIB PPM1B PPM1D PPP1CB PPP1R15B PPP1R3A PPP2R3C PPP2R5D PPP3CA PQBP1 PRCD PRDM13 PRDM16 PRDX1 PREPL PRF1 PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCD PRKCZ PRKDC PRKG1 PRKG2 PRMT7 PRNP PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRTN3 PSAP PSAT1 PSMB10 PSMB4 PSMB8 PSMB9 PSMC1 PSMC3IP PSMD12 PSPH PTCD3 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN1 PTPN11 PTPN2 PTPN22 PTRH2 PTS PUF60 PUM1 PUS1 PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 PYGL PYROXD1 QRICH1 QRSL1 RAB18 RAB23 RAB33B RAB39B RAB3GAP1 RAB3GAP2 RABL3 RAC1 RAC2 RACGAP1 RAD21 RAD50 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RAPSN RARA RARB RARS2 RASA1 RASA2 RASGRP1 RB1 RBBP8 RBCK1 RBM10 RBM28 RBM8A RBMX RBP3 RBPJ RDH11 RDH12 RECQL4 REEP6 RELB RELN RERE REST RET RETN RFC2 RFT1 RFWD3 RFX5 RFX6 RFXANK RFXAP RGR RHAG RHBDF2 RHCE RHD RHO RIGI RIN2 RINT1 RIPK1 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNF135 RNF168 RNF2 RNF216 RNPC3 RNR1 RNU4ATAC RNU7-1 ROBO1 ROGDI ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RPL11 RPL13 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPH4A RSPH9 RSPRY1 RTEL1 RTL1 RTTN RUNX1 RUNX2 RYR1 SAG SALL1 SALL4 SAMD9 SAMHD1 SAR1B SARS1 SARS2 SASS6 SATB1 SATB2 SBDS SC5D SCAPER SCARB2 SCN1B SCN2A SCN3A SCN4A SCN8A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCUBE3 SDC3 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23A SEC23B SEC24C SEC24D SEC31A SEC61A1 SECISBP2 SELENOI SELENON SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA4D SEMA5A SEPTIN9 SERAC1 SERPINA1 SERPINH1 SET SETBP1 SETD1A SETD2 SETD5 SF3B4 SFTPB SFTPC SFXN4 SGMS2 SGO1 SGSH SH2B1 SH3KBP1 SH3PXD2B SH3TC2 SHANK3 SHH SHMT2 SHOC2 SHOX SHPK SHQ1 SHROOM4 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SIX2 SIX3 SIX6 SKI SKIC2 SKIC3 SLC10A2 SLC10A7 SLC11A1 SLC12A1 SLC12A3 SLC13A5 SLC16A2 SLC17A5 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC20A2 SLC22A4 SLC22A5 SLC25A11 SLC25A13 SLC25A15 SLC25A21 SLC25A22 SLC25A24 SLC25A3 SLC25A4 SLC25A46 SLC26A2 SLC26A3 SLC26A4 SLC26A9 SLC29A3 SLC2A1 SLC2A2 SLC2A3 SLC30A8 SLC30A9 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC35C1 SLC35D1 SLC37A4 SLC38A3 SLC39A13 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC46A1 SLC4A1 SLC4A4 SLC51A SLC5A1 SLC5A2 SLC5A5 SLC6A14 SLC6A19 SLC6A8 SLC7A14 SLC7A7 SLC9A1 SLC9A3 SLC9A6 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMO SMOC1 SMPD1 SMPD4 SMS SNAP29 SNCA SNORD115-1 SNORD116-1 SNRNP200 SNRPB SNRPN SNX10 SOHLH1 SON SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SOX9 SP110 SP7 SPARC SPART SPATA5 SPATA7 SPECC1L SPEN SPG11 SPIDR SPINK1 SPINK5 SPOP SPR SPRED1 SPRED2 SPRTN SPRY4 SPTA1 SPTB SPTBN1 SPTLC1 SRCAP SRD5A3 SREBF1 SRP54 SRPX2 SRSF2 SRY SSR4 ST3GAL5 STAC3 STAG1 STAG2 STAMBP STAR STAT1 STAT3 STAT4 STAT5B STAT6 STEAP3 STEEP1 STIL STIM1 STING1 STN1 STOX1 STRA6 STRADA STS STT3A STT3B STUB1 STX16 STX1A SUCLA2 SUCLG1 SUFU SUGCT SULT2B1 SUMF1 SURF1 SUZ12 SYK SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TAB2 TAC3 TACO1 TACR3 TAF1 TAF13 TAF6 TAFAZZIN TALDO1 TAOK1 TAPT1 TARS1 TASP1 TAT TBC1D20 TBC1D23 TBC1D2B TBCD TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX6 TCF12 TCF20 TCF3 TCF4 TCF7L2 TCIRG1 TCN2 TCOF1 TCTN3 TDGF1 TECPR2 TELO2 TERC TERT TET2 TFAM TFAP2A TFE3 TFRC TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 THG1L THOC2 THPO THRA THRB THSD4 THUMPD1 TIAM1 TIMM22 TIMM50 TIMMDC1 TINF2 TJP2 TK2 TKFC TKT TLK2 TLL1 TLR4 TLR8 TMCO1 TMEM106B TMEM126B TMEM127 TMEM165 TMEM216 TMEM218 TMEM237 TMEM270 TMEM38B TMEM43 TMEM53 TMEM67 TMEM70 TMPRSS15 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNFSF4 TNNI2 TNNI3 TNNT2 TNNT3 TNPO2 TOGARAM1 TOM1 TONSL TOP3A TOPORS TOR1A TP53 TP53RK TP63 TPI1 TPM2 TPM3 TPRKB TRAC TRAF3IP1 TRAF7 TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC2 TRAPPC6B TRAPPC9 TREX1 TRH TRHR TRIM28 TRIM32 TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT10C TRMT5 TRNC TRNF TRNH TRNK TRNL1 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPS1 TRPV4 TRPV6 TRRAP TSFM TSHB TSHR TSPYL1 TSR2 TTC21B TTC26 TTC7A TTC8 TTI2 TTN TTR TUB TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBGCP4 TUBGCP6 TUFM TULP1 TWIST1 TWIST2 TWNK TXNL4A TXNRD2 TYMP TYMS UBA2 UBA5 UBAC2 UBE2A UBE2T UBE3A UBE3B UBE4A UBE4B UBR1 UBR7 UBTF UCP2 UCP3 UFC1 UFD1 UFM1 UFSP2 UMPS UNC45A UNC45B UNC80 UPF3B UQCC2 UQCC3 UQCRC2 UQCRFS1 UROC1 UROS USB1 USF3 USH2A USP48 USP7 USP8 USP9X VAC14 VAMP7 VANGL2 VARS2 VCP VDR VHL VIPAS39 VLDLR VPS11 VPS13A VPS13B VPS33B VPS35 VPS35L VPS37A VPS37D VPS45 VPS51 VPS53 VRK1 WAC WARS2 WASHC4 WASHC5 WBP11 WDPCP WDR11 WDR19 WDR26 WDR35 WDR4 WDR62 WDR73 WDR81 WFS1 WIPI2 WLS WNT1 WNT2B WNT4 WNT5A WNT7A WRAP53 WRN WT1 WWOX XPA XPC XPR1 XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YARS2 YIF1B YIPF5 YME1L1 YWHAE YWHAG YY1 YY1AP1 ZAP70 ZBTB16 ZBTB18 ZBTB20 ZBTB24 ZBTB7A ZC4H2 ZDHHC9 ZEB2 ZFP57 ZFPM2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF292 ZNF335 ZNF365 ZNF407 ZNF408 ZNF469 ZNF513 ZNF699 ZNF711 ZNFX1 ZNRF3 ZPR1 ZSWIM6 ZSWIM7

Diseases (3014) :OMIM:231550 ORPHA:869 OMIM:616339 ORPHA:442835 OMIM:614096 ORPHA:2203 ORPHA:3124 OMIM:613163 ORPHA:79394 ORPHA:313 OMIM:610921 ORPHA:791 OMIM:601847 ORPHA:69665 ORPHA:69663 ORPHA:241 ORPHA:2802 ORPHA:51608 ORPHA:276575 OMIM:125853 OMIM:618857 OMIM:256450 ORPHA:99885 ORPHA:552 ORPHA:99886 OMIM:239850 ORPHA:388 OMIM:614857 ORPHA:98907 OMIM:617602 OMIM:613933 ORPHA:99901 ORPHA:42 OMIM:201470 ORPHA:26792 ORPHA:26793 OMIM:165800 ORPHA:171866 OMIM:612813 ORPHA:93283 OMIM:608361 ORPHA:134 OMIM:616553 ORPHA:3322 OMIM:617762 OMIM:614559 ORPHA:2971 ORPHA:1855 OMIM:607944 ORPHA:289504 OMIM:614265 ORPHA:171439 ORPHA:2020 OMIM:255310 OMIM:161800 ORPHA:91387 ORPHA:2995 OMIM:243310 ORPHA:64755 ORPHA:79107 OMIM:607371 OMIM:614583 ORPHA:2604 ORPHA:337 ORPHA:39041 ORPHA:277 OMIM:102700 ORPHA:124 OMIM:614328 ORPHA:3449 OMIM:277600 OMIM:613195 ORPHA:1901 OMIM:225410 ORPHA:2136 OMIM:231050 ORPHA:51 OMIM:615010 ORPHA:225154 OMIM:618862 ORPHA:363528 OMIM:615286 OMIM:617885 OMIM:619651 ORPHA:98889 OMIM:616503 OMIM:620065 OMIM:619151 OMIM:614300 ORPHA:404448 OMIM:615873 OMIM:601665 OMIM:103050 ORPHA:100973 OMIM:309548 OMIM:619297 OMIM:616368 ORPHA:444077 OMIM:208400 ORPHA:90308 OMIM:212350 ORPHA:366 OMIM:232400 ORPHA:528 OMIM:608594 OMIM:600121 OMIM:618276 ORPHA:2254 ORPHA:93598 OMIM:613752 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:2850 OMIM:300232 OMIM:260600 OMIM:618006 ORPHA:963 OMIM:219090 OMIM:102200 ORPHA:99725 ORPHA:2965 ORPHA:33355 OMIM:235555 ORPHA:79303 ORPHA:201 ORPHA:2495 ORPHA:744 OMIM:176920 ORPHA:293964 OMIM:240900 OMIM:612740 ORPHA:86816 ORPHA:90348 ORPHA:447760 OMIM:616603 OMIM:219150 OMIM:601162 OMIM:616586 ORPHA:816 OMIM:270200 ORPHA:57 OMIM:611881 OMIM:229600 ORPHA:469 OMIM:608540 ORPHA:280071 ORPHA:79324 OMIM:607143 ORPHA:324422 OMIM:607906 OMIM:601110 ORPHA:79320 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:608776 ORPHA:64 OMIM:203800 OMIM:242100 OMIM:241510 OMIM:241500 OMIM:205100 ORPHA:300605 OMIM:613451 ORPHA:228390 ORPHA:52022 OMIM:214950 OMIM:300373 ORPHA:2780 OMIM:300990 ORPHA:35858 ORPHA:401805 OMIM:615686 ORPHA:221008 OMIM:618625 ORPHA:251066 ORPHA:822 ORPHA:356996 ORPHA:2512 OMIM:616681 ORPHA:2332 OMIM:148050 OMIM:619504 ORPHA:85410 ORPHA:85408 OMIM:620045 OMIM:308700 ORPHA:478 OMIM:230740 ORPHA:2067 OMIM:228600 ORPHA:2176 OMIM:242150 OMIM:609313 ORPHA:85329 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:614067 ORPHA:821 ORPHA:412 OMIM:125800 ORPHA:223 OMIM:300068 ORPHA:99429 ORPHA:95706 OMIM:617164 OMIM:608097 OMIM:207800 ORPHA:974 ORPHA:1465 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:612291 ORPHA:110 OMIM:209900 OMIM:600151 ORPHA:1556 OMIM:615954 ORPHA:189427 ORPHA:3157 OMIM:617718 OMIM:620141 OMIM:253200 OMIM:619698 ORPHA:79345 OMIM:302950 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:308350 ORPHA:1934 ORPHA:333 OMIM:228000 ORPHA:99803 OMIM:617796 OMIM:207900 ORPHA:23 OMIM:615574 OMIM:608716 OMIM:215700 ORPHA:98850 OMIM:605039 ORPHA:97297 ORPHA:98849 OMIM:617190 ORPHA:352577 OMIM:615485 ORPHA:496790 OMIM:619422 ORPHA:100984 ORPHA:100 OMIM:208900 ORPHA:52416 ORPHA:411515 OMIM:619851 ORPHA:2131 OMIM:616045 OMIM:618120 ORPHA:255210 ORPHA:644 OMIM:300972 ORPHA:93952 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:602722 OMIM:617403 ORPHA:3473 OMIM:616455 OMIM:617402 OMIM:309400 ORPHA:565 ORPHA:905 ORPHA:1766 OMIM:211600 OMIM:604273 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 ORPHA:96253 OMIM:309580 ORPHA:100075 ORPHA:94147 ORPHA:67046 OMIM:250950 ORPHA:352490 OMIM:615834 ORPHA:30925 OMIM:304800 OMIM:609465 ORPHA:536467 OMIM:615349 ORPHA:2725 ORPHA:93359 OMIM:271640 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:79332 ORPHA:75496 OMIM:130070 OMIM:614008 OMIM:619762 ORPHA:50251 ORPHA:904 OMIM:615995 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615986 OMIM:300475 ORPHA:369939 OMIM:619641 OMIM:248600 ORPHA:52417 ORPHA:545 ORPHA:520 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:261330 OMIM:603358 ORPHA:53693 OMIM:124000 ORPHA:893 OMIM:300106 OMIM:619325 ORPHA:169189 OMIM:255200 OMIM:613375 ORPHA:125 OMIM:210900 ORPHA:33110 OMIM:614856 ORPHA:243 OMIM:300510 ORPHA:261295 OMIM:617877 OMIM:607932 ORPHA:465508 OMIM:608022 ORPHA:440437 ORPHA:329971 ORPHA:79076 OMIM:174900 OMIM:609441 ORPHA:2098 ORPHA:93388 ORPHA:93384 ORPHA:2639 ORPHA:93110 OMIM:614078 ORPHA:529962 OMIM:617755 ORPHA:1340 OMIM:115150 ORPHA:54595 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 ORPHA:1333 ORPHA:84 OMIM:617883 OMIM:605724 ORPHA:654 ORPHA:280679 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:609054 OMIM:617333 OMIM:269700 OMIM:602522 ORPHA:89938 OMIM:307200 ORPHA:47 ORPHA:797 ORPHA:1052 OMIM:257300 OMIM:619985 OMIM:130080 ORPHA:75392 OMIM:619423 ORPHA:117 OMIM:143860 ORPHA:2785 OMIM:259730 OMIM:620029 ORPHA:79102 OMIM:188580 ORPHA:131 ORPHA:824 OMIM:617798 OMIM:617799 OMIM:618522 ORPHA:163693 OMIM:614756 OMIM:251450 ORPHA:1425 OMIM:617719 OMIM:619318 OMIM:618131 OMIM:618891 ORPHA:33364 OMIM:616672 OMIM:300749 ORPHA:163937 OMIM:607271 OMIM:239200 OMIM:601198 ORPHA:417 ORPHA:1606 OMIM:612526 OMIM:606721 OMIM:613327 ORPHA:648 OMIM:613563 ORPHA:394 OMIM:236200 OMIM:235510 OMIM:619795 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:613807 OMIM:618268 ORPHA:2616 OMIM:614205 ORPHA:1159 ORPHA:29073 ORPHA:140952 OMIM:300707 ORPHA:1572 OMIM:180300 ORPHA:169160 OMIM:615617 OMIM:615607 OMIM:308230 ORPHA:244242 OMIM:226300 OMIM:613501 ORPHA:1308 OMIM:211750 OMIM:224120 ORPHA:487796 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 ORPHA:143 ORPHA:2268 OMIM:616910 ORPHA:91347 ORPHA:1573 OMIM:615631 OMIM:617694 OMIM:617360 OMIM:604804 ORPHA:3095 ORPHA:505652 ORPHA:652 OMIM:130650 ORPHA:85173 ORPHA:436144 OMIM:614732 ORPHA:397590 ORPHA:1501 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:95496 ORPHA:220386 OMIM:613804 ORPHA:586 OMIM:618620 OMIM:616051 OMIM:613676 OMIM:618702 ORPHA:474 OMIM:616300 OMIM:613823 OMIM:614845 ORPHA:3156 OMIM:615703 OMIM:615991 OMIM:611134 OMIM:614114 OMIM:614728 OMIM:602271 OMIM:617406 OMIM:619607 OMIM:614779 OMIM:605376 OMIM:219700 ORPHA:60033 ORPHA:457050 OMIM:616209 ORPHA:529965 OMIM:617159 OMIM:214800 ORPHA:138 ORPHA:432 OMIM:615032 ORPHA:668 OMIM:620023 OMIM:618438 ORPHA:2970 OMIM:253290 OMIM:191800 ORPHA:199318 ORPHA:2990 OMIM:265000 OMIM:618167 ORPHA:2953 ORPHA:263463 OMIM:143095 ORPHA:363417 OMIM:617600 OMIM:209920 ORPHA:572 OMIM:619702 ORPHA:3463 OMIM:617090 ORPHA:3303 OMIM:272440 ORPHA:3255 OMIM:619512 OMIM:300009 OMIM:300554 OMIM:308990 ORPHA:53 ORPHA:667 OMIM:618541 OMIM:611490 OMIM:613090 ORPHA:358 OMIM:248250 OMIM:615237 ORPHA:2301 ORPHA:411493 OMIM:615803 ORPHA:445038 OMIM:616271 OMIM:614129 ORPHA:453510 ORPHA:2116 OMIM:618500 ORPHA:556955 OMIM:619033 OMIM:612540 OMIM:618186 ORPHA:163681 OMIM:619058 ORPHA:436271 ORPHA:263508 OMIM:611209 ORPHA:263501 OMIM:613489 ORPHA:85172 OMIM:618150 ORPHA:263487 OMIM:613612 OMIM:614576 ORPHA:79333 OMIM:608779 ORPHA:95428 OMIM:611182 OMIM:156500 ORPHA:174 ORPHA:440354 ORPHA:250984 ORPHA:2021 OMIM:228520 OMIM:154780 ORPHA:560 ORPHA:1427 OMIM:215150 ORPHA:536516 ORPHA:79402 ORPHA:1899 OMIM:619115 OMIM:130060 OMIM:166200 OMIM:166210 OMIM:259420 OMIM:166220 ORPHA:230851 OMIM:619120 OMIM:615155 ORPHA:93296 OMIM:200610 OMIM:609162 ORPHA:85198 OMIM:132450 ORPHA:86820 OMIM:156550 ORPHA:485 ORPHA:2380 OMIM:150600 ORPHA:166011 OMIM:604864 ORPHA:85166 OMIM:151210 OMIM:184250 ORPHA:94068 OMIM:183900 OMIM:616583 ORPHA:93315 OMIM:184255 ORPHA:93316 OMIM:271700 ORPHA:1856 OMIM:108300 ORPHA:2500 OMIM:130050 ORPHA:286 OMIM:614483 ORPHA:1018 OMIM:130000 OMIM:254090 OMIM:255600 ORPHA:89842 ORPHA:79408 OMIM:226600 ORPHA:79409 ORPHA:166002 OMIM:614134 OMIM:600204 OMIM:614284 OMIM:600969 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:132400 ORPHA:93308 OMIM:177170 ORPHA:750 OMIM:619255 OMIM:617800 ORPHA:255249 OMIM:616276 OMIM:616733 OMIM:614654 ORPHA:275555 ORPHA:550 OMIM:540000 OMIM:619046 ORPHA:255241 OMIM:619355 OMIM:619054 OMIM:619060 OMIM:612714 OMIM:619064 OMIM:619051 OMIM:300887 ORPHA:2556 OMIM:309801 OMIM:619059 OMIM:619326 ORPHA:2754 OMIM:277170 ORPHA:280 OMIM:194190 OMIM:237300 OMIM:619876 OMIM:616229 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:615789 ORPHA:930 OMIM:610682 ORPHA:264675 OMIM:300770 OMIM:618870 OMIM:617062 ORPHA:397715 OMIM:612199 ORPHA:1775 ORPHA:363611 OMIM:615502 OMIM:604168 ORPHA:48431 ORPHA:900 OMIM:615075 OMIM:619846 ORPHA:281 OMIM:219900 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:103918 OMIM:256540 ORPHA:2073 OMIM:265800 ORPHA:763 OMIM:618142 OMIM:619239 OMIM:300354 ORPHA:85293 OMIM:273750 OMIM:618330 ORPHA:166035 OMIM:250410 ORPHA:90796 ORPHA:621 OMIM:250800 OMIM:618935 OMIM:615453 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 ORPHA:91 OMIM:139300 OMIM:201910 OMIM:143880 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:619073 ORPHA:209902 OMIM:613812 ORPHA:137675 ORPHA:857 OMIM:618910 OMIM:619441 ORPHA:3464 ORPHA:314679 OMIM:601390 OMIM:603554 ORPHA:275 OMIM:602450 ORPHA:178509 OMIM:168605 OMIM:300067 OMIM:619426 ORPHA:910 ORPHA:320380 OMIM:615033 OMIM:614507 ORPHA:300536 OMIM:271665 ORPHA:93352 OMIM:602557 OMIM:613398 OMIM:300958 OMIM:618653 ORPHA:819 OMIM:619573 OMIM:618404 OMIM:615863 OMIM:192430 OMIM:251880 ORPHA:35107 OMIM:602398 OMIM:270400 ORPHA:818 OMIM:617836 OMIM:613861 OMIM:263750 OMIM:618480 ORPHA:251510 OMIM:616632 OMIM:618272 ORPHA:2849 OMIM:267000 OMIM:305000 ORPHA:2394 OMIM:618793 ORPHA:254534 ORPHA:254528 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:2311 OMIM:277300 ORPHA:29072 OMIM:220600 ORPHA:289176 ORPHA:589821 OMIM:616113 ORPHA:453533 ORPHA:352470 OMIM:615156 OMIM:615807 OMIM:618300 ORPHA:411602 OMIM:610198 ORPHA:66634 OMIM:617052 ORPHA:811 OMIM:260400 OMIM:616192 ORPHA:445062 OMIM:619858 ORPHA:330050 OMIM:614388 OMIM:615368 OMIM:618724 ORPHA:276621 ORPHA:404443 OMIM:615879 OMIM:242860 OMIM:616433 OMIM:618292 OMIM:243700 ORPHA:994 OMIM:610768 ORPHA:91131 OMIM:617604 OMIM:251230 ORPHA:86309 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 OMIM:620070 OMIM:608799 ORPHA:79322 ORPHA:329178 ORPHA:2514 OMIM:616311 ORPHA:293948 OMIM:274270 OMIM:222748 OMIM:619435 OMIM:615508 ORPHA:158687 OMIM:607655 OMIM:614653 ORPHA:101003 OMIM:619847 OMIM:274900 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:239 OMIM:223800 OMIM:607326 OMIM:618492 OMIM:613091 ORPHA:93271 OMIM:615503 OMIM:615633 ORPHA:289 OMIM:617088 OMIM:617405 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:615812 ORPHA:731 OMIM:614924 OMIM:617330 OMIM:302960 ORPHA:401973 OMIM:300960 ORPHA:35173 OMIM:615065 OMIM:600501 OMIM:617561 ORPHA:3447 ORPHA:90349 OMIM:614437 OMIM:617941 OMIM:304110 OMIM:610536 ORPHA:79113 OMIM:616069 OMIM:615605 ORPHA:3337 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:226980 ORPHA:1667 ORPHA:85282 OMIM:300148 OMIM:618295 OMIM:268305 OMIM:619376 OMIM:615440 OMIM:202700 OMIM:301074 ORPHA:3019 OMIM:194050 OMIM:614457 ORPHA:1764 OMIM:223900 OMIM:617270 ORPHA:98863 OMIM:211180 ORPHA:1270 OMIM:619218 OMIM:208000 OMIM:613312 ORPHA:401810 OMIM:615683 OMIM:613684 ORPHA:353284 ORPHA:288 OMIM:614257 ORPHA:92050 OMIM:613217 ORPHA:144 ORPHA:1493 OMIM:242840 OMIM:617951 OMIM:610758 ORPHA:90322 ORPHA:1466 OMIM:610756 OMIM:601675 ORPHA:220295 OMIM:616390 OMIM:610651 ORPHA:90321 OMIM:615272 OMIM:278760 OMIM:610965 OMIM:616570 OMIM:278780 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 OMIM:617180 ORPHA:75857 OMIM:216100 ORPHA:2319 ORPHA:3103 OMIM:268300 ORPHA:785 OMIM:618187 OMIM:602473 ORPHA:51188 ORPHA:952 OMIM:225500 OMIM:193530 ORPHA:83469 OMIM:618395 OMIM:619304 OMIM:617763 OMIM:614678 OMIM:619576 OMIM:616081 OMIM:618065 OMIM:133700 ORPHA:321 ORPHA:502 OMIM:617425 ORPHA:508533 ORPHA:2792 OMIM:277590 OMIM:276700 ORPHA:93325 OMIM:602361 OMIM:127000 OMIM:615704 OMIM:204690 ORPHA:1832 OMIM:259775 OMIM:300261 OMIM:227650 OMIM:300514 OMIM:314390 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 OMIM:614083 ORPHA:438178 OMIM:616154 OMIM:614946 OMIM:619013 OMIM:613658 ORPHA:3437 OMIM:616006 OMIM:615546 OMIM:219100 OMIM:102370 ORPHA:969 OMIM:614185 ORPHA:2084 OMIM:616914 OMIM:154700 OMIM:604308 ORPHA:284979 ORPHA:2462 ORPHA:2833 OMIM:184900 OMIM:608328 ORPHA:115 OMIM:121050 OMIM:606220 OMIM:615471 OMIM:618089 OMIM:619164 OMIM:618156 ORPHA:543470 OMIM:305400 ORPHA:915 OMIM:615270 ORPHA:89937 OMIM:193100 ORPHA:90024 OMIM:612702 ORPHA:2117 OMIM:147950 OMIM:166250 ORPHA:2645 OMIM:101200 ORPHA:794 OMIM:101400 ORPHA:15 OMIM:100800 OMIM:616482 OMIM:610474 ORPHA:429 OMIM:146000 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:187601 OMIM:606812 ORPHA:500095 OMIM:617107 ORPHA:3472 OMIM:216340 ORPHA:2771 OMIM:259450 OMIM:610968 ORPHA:300179 ORPHA:272 OMIM:610883 ORPHA:2308 ORPHA:370348 OMIM:300321 ORPHA:1826 ORPHA:2484 OMIM:309350 ORPHA:90652 OMIM:311300 OMIM:304120 ORPHA:88630 ORPHA:75497 ORPHA:1190 OMIM:108720 OMIM:108721 ORPHA:1263 OMIM:112310 OMIM:150250 ORPHA:503 OMIM:272460 ORPHA:75249 OMIM:615271 OMIM:225790 ORPHA:261483 OMIM:619991 ORPHA:95494 ORPHA:782 ORPHA:95713 ORPHA:261144 OMIM:618699 ORPHA:391372 OMIM:613670 ORPHA:37042 OMIM:304790 ORPHA:2609 ORPHA:466688 ORPHA:52901 OMIM:229100 OMIM:612460 OMIM:612938 OMIM:230000 ORPHA:349 OMIM:618005 OMIM:618822 ORPHA:93328 OMIM:164745 ORPHA:90050 OMIM:232200 OMIM:612541 ORPHA:308552 ORPHA:206436 OMIM:245200 OMIM:230350 ORPHA:79237 ORPHA:570422 OMIM:253000 OMIM:618885 ORPHA:79239 OMIM:230400 OMIM:619042 OMIM:190685 ORPHA:3226 ORPHA:2237 ORPHA:251071 OMIM:600001 ORPHA:2255 ORPHA:363686 OMIM:618838 OMIM:618839 OMIM:612718 OMIM:134600 ORPHA:77259 ORPHA:77261 OMIM:608013 OMIM:230900 OMIM:231000 ORPHA:2072 OMIM:232500 OMIM:231670 OMIM:606176 OMIM:208530 OMIM:201250 ORPHA:968 ORPHA:63442 OMIM:615072 OMIM:113100 OMIM:200700 OMIM:228900 OMIM:617913 ORPHA:363717 OMIM:609060 ORPHA:565624 OMIM:618397 OMIM:619518 OMIM:262400 OMIM:612781 OMIM:173100 OMIM:262650 OMIM:604271 ORPHA:633 OMIM:262500 ORPHA:314802 OMIM:618157 OMIM:615925 ORPHA:314811 OMIM:617827 ORPHA:98897 ORPHA:317 OMIM:257850 OMIM:612474 ORPHA:477 OMIM:129500 OMIM:307030 ORPHA:324 OMIM:301500 ORPHA:79255 OMIM:230500 OMIM:230600 OMIM:230650 OMIM:253010 ORPHA:1486 OMIM:618123 OMIM:615849 OMIM:610829 ORPHA:36 OMIM:146510 ORPHA:672 OMIM:610199 OMIM:606762 OMIM:220120 ORPHA:309246 OMIM:616835 OMIM:615361 OMIM:619854 ORPHA:624 OMIM:219080 ORPHA:562 OMIM:174800 OMIM:166350 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 ORPHA:79445 OMIM:612463 ORPHA:488613 OMIM:616973 OMIM:619503 OMIM:222765 OMIM:252500 OMIM:252600 ORPHA:576 OMIM:252605 OMIM:614841 OMIM:252940 ORPHA:2078 OMIM:231070 OMIM:618721 ORPHA:373 OMIM:312870 ORPHA:2662 ORPHA:93329 OMIM:258315 OMIM:614480 OMIM:615947 ORPHA:2570 OMIM:300942 ORPHA:171 OMIM:616281 ORPHA:477673 ORPHA:93317 OMIM:250220 ORPHA:96182 OMIM:616029 OMIM:300699 ORPHA:364028 OMIM:617864 ORPHA:208447 ORPHA:289266 OMIM:245570 OMIM:617162 OMIM:614831 OMIM:618922 OMIM:602471 OMIM:616943 OMIM:616395 OMIM:617988 ORPHA:444013 OMIM:616198 OMIM:204000 OMIM:617065 OMIM:253220 ORPHA:2089 OMIM:617662 ORPHA:2128 ORPHA:231144 ORPHA:231140 OMIM:180860 OMIM:619721 OMIM:619759 OMIM:619758 OMIM:619950 OMIM:604931 OMIM:617660 OMIM:616756 ORPHA:464282 OMIM:231530 ORPHA:71212 ORPHA:5 ORPHA:746 OMIM:609015 ORPHA:86884 ORPHA:98791 ORPHA:231214 ORPHA:231226 ORPHA:2133 OMIM:309541 ORPHA:1001 OMIM:600430 OMIM:300863 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:620072 OMIM:617011 ORPHA:457359 OMIM:176270 OMIM:613686 ORPHA:226307 OMIM:182230 ORPHA:309162 OMIM:203500 OMIM:252930 ORPHA:1422 OMIM:600092 ORPHA:88639 ORPHA:531 OMIM:616881 OMIM:616977 OMIM:618547 ORPHA:397 ORPHA:29207 ORPHA:36426 ORPHA:3287 ORPHA:133 OMIM:212750 ORPHA:703 ORPHA:747 OMIM:181000 ORPHA:79242 ORPHA:94063 OMIM:618908 OMIM:300915 ORPHA:20 OMIM:614034 ORPHA:324575 ORPHA:261265 ORPHA:1309 OMIM:616026 ORPHA:263455 ORPHA:52430 OMIM:620083 OMIM:300986 ORPHA:352665 ORPHA:453504 ORPHA:238769 ORPHA:93387 OMIM:113300 ORPHA:887 ORPHA:2118 OMIM:140350 OMIM:619026 OMIM:259100 OMIM:300322 OMIM:218040 ORPHA:3071 ORPHA:2612 ORPHA:2874 OMIM:163200 OMIM:619194 OMIM:614662 OMIM:218030 ORPHA:320 OMIM:261515 OMIM:233400 ORPHA:90791 OMIM:607765 ORPHA:79301 OMIM:616854 OMIM:224410 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:617248 ORPHA:399 ORPHA:248111 OMIM:309590 ORPHA:67041 OMIM:601492 OMIM:236680 OMIM:601410 ORPHA:96191 OMIM:233600 ORPHA:541423 OMIM:617093 ORPHA:436174 OMIM:616007 OMIM:615330 ORPHA:163634 ORPHA:99646 ORPHA:217093 ORPHA:217085 OMIM:309900 ORPHA:93473 OMIM:607014 ORPHA:93476 OMIM:607015 OMIM:615846 OMIM:182250 OMIM:610967 OMIM:618963 OMIM:209950 ORPHA:1515 OMIM:218330 OMIM:266920 OMIM:619471 OMIM:615630 OMIM:615996 OMIM:614099 OMIM:617102 OMIM:617927 OMIM:617119 OMIM:611263 ORPHA:52055 OMIM:300472 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:616489 OMIM:615961 ORPHA:140941 OMIM:601495 OMIM:604320 OMIM:300888 ORPHA:63446 OMIM:607778 OMIM:112500 OMIM:615592 ORPHA:464 OMIM:308300 OMIM:613148 OMIM:614188 OMIM:612852 OMIM:615767 OMIM:615207 OMIM:606367 OMIM:618495 OMIM:300400 ORPHA:276 OMIM:266600 OMIM:619750 OMIM:619751 OMIM:608971 ORPHA:169154 OMIM:610156 ORPHA:75858 ORPHA:559 OMIM:617404 ORPHA:2746 OMIM:258480 ORPHA:3144 OMIM:618858 OMIM:613370 OMIM:246200 ORPHA:2297 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:618571 OMIM:618572 OMIM:617926 ORPHA:60030 OMIM:619472 OMIM:618687 ORPHA:217377 ORPHA:3452 ORPHA:199302 OMIM:226990 OMIM:301035 OMIM:617613 OMIM:613385 ORPHA:228426 OMIM:616647 OMIM:274800 OMIM:118450 OMIM:616022 OMIM:618999 ORPHA:71493 ORPHA:729 OMIM:600802 ORPHA:35078 ORPHA:1980 ORPHA:98934 OMIM:606438 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619147 OMIM:616268 ORPHA:457193 ORPHA:3047 ORPHA:85201 ORPHA:89844 OMIM:616784 OMIM:618284 ORPHA:98768 ORPHA:420561 OMIM:135500 OMIM:241200 OMIM:612780 ORPHA:276580 ORPHA:79644 OMIM:601820 OMIM:613239 OMIM:170390 ORPHA:37553 OMIM:614098 ORPHA:435628 OMIM:618596 OMIM:619131 OMIM:616728 OMIM:618846 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:619476 OMIM:619479 OMIM:617296 ORPHA:521390 ORPHA:2526 OMIM:616258 OMIM:617914 ORPHA:261323 OMIM:614213 OMIM:256700 ORPHA:397946 OMIM:603546 ORPHA:93360 ORPHA:98870 OMIM:615411 OMIM:615282 OMIM:200990 ORPHA:166024 ORPHA:66629 OMIM:176400 OMIM:613673 ORPHA:319182 OMIM:605130 OMIM:619934 ORPHA:589618 OMIM:617284 OMIM:617768 OMIM:617788 OMIM:609942 OMIM:600268 ORPHA:3339 ORPHA:312 OMIM:609165 ORPHA:79396 ORPHA:89838 OMIM:131760 ORPHA:2309 OMIM:619599 OMIM:617661 OMIM:303350 ORPHA:2466 ORPHA:2065 OMIM:301006 ORPHA:258 OMIM:226700 ORPHA:79404 OMIM:620076 OMIM:610798 ORPHA:90023 OMIM:608840 ORPHA:319671 OMIM:615071 OMIM:615438 OMIM:617021 OMIM:615300 OMIM:309585 OMIM:617514 OMIM:215140 ORPHA:1426 OMIM:169400 OMIM:618019 OMIM:615758 OMIM:619322 ORPHA:1306 OMIM:614962 ORPHA:66628 OMIM:614963 ORPHA:179494 OMIM:609813 OMIM:620007 OMIM:619613 OMIM:228300 ORPHA:3000 OMIM:221750 ORPHA:231720 OMIM:262700 OMIM:614462 ORPHA:3206 OMIM:601559 OMIM:619774 ORPHA:298 ORPHA:235 OMIM:606593 ORPHA:99812 OMIM:614340 OMIM:278000 ORPHA:75233 OMIM:615980 ORPHA:988 ORPHA:79284 OMIM:277380 ORPHA:79474 ORPHA:98853 ORPHA:98855 ORPHA:157973 OMIM:176670 ORPHA:740 OMIM:248370 ORPHA:90153 OMIM:613205 ORPHA:1662 OMIM:619793 OMIM:619179 OMIM:161200 ORPHA:2613 ORPHA:1458 OMIM:600373 ORPHA:79243 OMIM:617168 ORPHA:77297 OMIM:609628 OMIM:614700 OMIM:164310 ORPHA:3152 OMIM:144750 ORPHA:2788 OMIM:259770 ORPHA:70472 OMIM:220111 OMIM:619074 OMIM:615198 OMIM:619451 OMIM:614819 OMIM:601216 OMIM:617809 OMIM:613177 OMIM:614037 OMIM:615595 OMIM:615838 OMIM:619345 OMIM:615994 OMIM:616564 OMIM:605275 OMIM:615877 OMIM:618325 OMIM:617243 OMIM:619004 OMIM:619005 ORPHA:1272 OMIM:601088 ORPHA:2774 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:615468 ORPHA:397941 OMIM:614202 OMIM:248500 ORPHA:309282 OMIM:615279 OMIM:615280 ORPHA:638 OMIM:157800 ORPHA:3238 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:619869 ORPHA:2505 OMIM:616734 OMIM:615486 OMIM:616430 OMIM:257920 OMIM:618273 OMIM:607078 ORPHA:93311 OMIM:608728 ORPHA:156728 ORPHA:228402 OMIM:156200 OMIM:614372 OMIM:618392 ORPHA:85284 ORPHA:2273 OMIM:308205 OMIM:301014 ORPHA:361 OMIM:202200 OMIM:602025 OMIM:618406 ORPHA:71529 OMIM:210200 ORPHA:6 OMIM:210210 OMIM:251120 OMIM:618124 OMIM:609981 OMIM:617564 OMIM:616185 OMIM:251200 ORPHA:1596 OMIM:618959 OMIM:617339 OMIM:618681 OMIM:300673 OMIM:300260 OMIM:300055 ORPHA:1762 OMIM:312750 ORPHA:778 ORPHA:3077 OMIM:617282 ORPHA:508093 ORPHA:93932 OMIM:301068 OMIM:309520 ORPHA:776 OMIM:300895 OMIM:305450 ORPHA:369891 OMIM:613668 OMIM:614399 ORPHA:65759 OMIM:614976 ORPHA:261190 OMIM:600987 ORPHA:97279 OMIM:618644 OMIM:608681 OMIM:618665 OMIM:616166 OMIM:617086 ORPHA:485421 OMIM:212066 ORPHA:79329 OMIM:245150 ORPHA:85202 OMIM:619269 OMIM:618329 OMIM:615673 ORPHA:2745 OMIM:300000 OMIM:617228 OMIM:618618 ORPHA:391646 OMIM:605231 ORPHA:2473 OMIM:615990 OMIM:249000 OMIM:248360 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 ORPHA:79283 ORPHA:1040 OMIM:250400 ORPHA:2501 OMIM:602111 ORPHA:93356 OMIM:259600 OMIM:616749 OMIM:251000 ORPHA:79312 ORPHA:289916 ORPHA:1552 OMIM:252150 OMIM:252160 OMIM:614250 OMIM:619090 OMIM:609180 OMIM:602579 ORPHA:79319 ORPHA:3319 OMIM:234050 OMIM:256810 OMIM:615457 OMIM:618499 ORPHA:251347 OMIM:618951 OMIM:614582 OMIM:618378 OMIM:610498 OMIM:617950 OMIM:611719 OMIM:618117 OMIM:619025 OMIM:618958 OMIM:617872 OMIM:616834 ORPHA:502423 OMIM:617675 OMIM:614947 ORPHA:395 ORPHA:563609 OMIM:618367 OMIM:310400 OMIM:614702 ORPHA:457485 OMIM:616638 OMIM:250940 ORPHA:254930 OMIM:613559 OMIM:236270 ORPHA:2169 OMIM:605552 ORPHA:14 OMIM:619127 OMIM:208150 ORPHA:343 OMIM:610377 ORPHA:29 ORPHA:391641 OMIM:193700 OMIM:618436 OMIM:178110 ORPHA:2053 ORPHA:1147 ORPHA:324604 OMIM:255160 OMIM:158300 ORPHA:3377 OMIM:619110 OMIM:254940 ORPHA:1358 OMIM:619941 OMIM:616549 OMIM:619868 OMIM:251850 OMIM:618975 OMIM:618116 ORPHA:508542 OMIM:616521 OMIM:300855 ORPHA:276432 ORPHA:2126 OMIM:617393 ORPHA:500545 OMIM:616034 ORPHA:431361 ORPHA:927 OMIM:237310 OMIM:615419 ORPHA:371364 OMIM:614063 OMIM:614800 ORPHA:647 OMIM:251260 OMIM:617983 OMIM:617984 OMIM:618460 OMIM:617985 OMIM:619373 ORPHA:551 ORPHA:2177 OMIM:614019 OMIM:605013 ORPHA:649 OMIM:616116 OMIM:618243 OMIM:618244 OMIM:618249 OMIM:619065 OMIM:618253 OMIM:619272 OMIM:618234 ORPHA:70474 OMIM:618237 OMIM:618238 OMIM:618776 OMIM:619003 OMIM:300952 OMIM:301021 OMIM:618246 OMIM:620135 OMIM:618252 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618229 ORPHA:399103 OMIM:256030 ORPHA:2751 OMIM:617022 OMIM:618853 OMIM:256550 ORPHA:812 OMIM:610370 OMIM:300912 ORPHA:97685 ORPHA:139474 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:193520 OMIM:618356 OMIM:617744 ORPHA:447980 ORPHA:420179 ORPHA:561 OMIM:602535 OMIM:614753 ORPHA:293978 OMIM:605711 ORPHA:404454 OMIM:615273 ORPHA:169079 OMIM:619755 OMIM:618278 OMIM:613987 ORPHA:319675 OMIM:614851 OMIM:122470 OMIM:301039 ORPHA:209905 OMIM:225250 ORPHA:95712 ORPHA:3384 OMIM:613330 OMIM:616050 OMIM:617388 ORPHA:1451 OMIM:607115 OMIM:191900 ORPHA:575 OMIM:619260 OMIM:614736 OMIM:617321 OMIM:270100 ORPHA:1412 ORPHA:466791 OMIM:300967 OMIM:189800 ORPHA:955 OMIM:102500 OMIM:130720 OMIM:256100 OMIM:606966 OMIM:256300 OMIM:602875 ORPHA:40 OMIM:615923 OMIM:616255 OMIM:619543 OMIM:300200 OMIM:617049 ORPHA:401777 OMIM:177735 OMIM:613224 OMIM:619833 ORPHA:228415 OMIM:117550 OMIM:619695 OMIM:300831 ORPHA:251383 OMIM:308050 OMIM:619340 ORPHA:436182 OMIM:617253 OMIM:617241 OMIM:620001 OMIM:611091 OMIM:619012 ORPHA:642 OMIM:613886 OMIM:618242 OMIM:619844 OMIM:618348 OMIM:618804 OMIM:618426 OMIM:271930 OMIM:618176 OMIM:617082 ORPHA:1507 OMIM:618529 OMIM:612921 ORPHA:98794 OMIM:251290 OMIM:300555 OMIM:309000 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:300804 OMIM:311200 OMIM:300209 ORPHA:31 OMIM:619701 OMIM:612782 ORPHA:3204 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:617729 OMIM:259720 OMIM:311250 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:617099 OMIM:610125 OMIM:613986 OMIM:610915 ORPHA:2050 OMIM:112240 OMIM:618493 ORPHA:329224 ORPHA:217385 ORPHA:79254 ORPHA:2209 OMIM:619859 OMIM:300558 OMIM:610832 OMIM:613320 ORPHA:216866 OMIM:619489 OMIM:612847 OMIM:616353 OMIM:120330 ORPHA:97362 OMIM:120200 ORPHA:137902 OMIM:194072 OMIM:218700 ORPHA:95720 OMIM:617641 OMIM:606054 OMIM:251280 OMIM:618371 OMIM:608027 OMIM:615919 ORPHA:438134 ORPHA:2637 OMIM:210720 ORPHA:71528 OMIM:600955 OMIM:608940 ORPHA:85167 ORPHA:1359 OMIM:610475 ORPHA:189439 ORPHA:1276 OMIM:112410 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:615665 OMIM:616592 OMIM:601812 OMIM:312170 ORPHA:255138 ORPHA:255182 OMIM:614651 OMIM:260370 OMIM:170100 OMIM:619055 ORPHA:3220 ORPHA:772 ORPHA:44 OMIM:214100 ORPHA:912 OMIM:614871 OMIM:266510 OMIM:614883 OMIM:614877 OMIM:614886 OMIM:614866 OMIM:214110 OMIM:616716 OMIM:215100 OMIM:615802 ORPHA:247262 OMIM:615716 OMIM:614921 OMIM:615816 ORPHA:443811 OMIM:615414 OMIM:307800 ORPHA:89936 OMIM:618725 ORPHA:127 OMIM:301900 ORPHA:79351 OMIM:256520 OMIM:601815 OMIM:617991 ORPHA:589905 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:261750 OMIM:613027 ORPHA:436252 OMIM:616843 OMIM:114300 OMIM:108145 OMIM:617146 ORPHA:376 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:301072 OMIM:618580 ORPHA:488635 OMIM:616917 OMIM:618010 ORPHA:3474 OMIM:280000 OMIM:614080 OMIM:614749 OMIM:617599 ORPHA:369837 OMIM:615398 OMIM:616809 ORPHA:557003 OMIM:618440 OMIM:613089 OMIM:612918 ORPHA:276280 ORPHA:60040 OMIM:602501 OMIM:616005 OMIM:269880 ORPHA:3163 OMIM:603387 OMIM:618889 OMIM:119800 OMIM:617205 OMIM:618821 ORPHA:53035 OMIM:266200 ORPHA:158668 OMIM:617527 ORPHA:521426 OMIM:618907 OMIM:226670 ORPHA:2518 OMIM:616171 OMIM:225400 ORPHA:1900 OMIM:609220 OMIM:612394 OMIM:312080 ORPHA:280229 ORPHA:280210 OMIM:212065 ORPHA:79318 ORPHA:1170 OMIM:213200 OMIM:617954 ORPHA:459033 OMIM:613179 OMIM:610717 ORPHA:98908 ORPHA:1173 OMIM:245800 ORPHA:2377 OMIM:275400 OMIM:251950 ORPHA:79096 OMIM:610090 ORPHA:319514 OMIM:614932 OMIM:614813 OMIM:300604 OMIM:616364 ORPHA:468678 OMIM:301220 OMIM:301030 ORPHA:163976 OMIM:615139 OMIM:618336 ORPHA:254892 OMIM:603041 OMIM:203700 OMIM:613662 OMIM:607459 OMIM:610131 OMIM:616462 ORPHA:1200 ORPHA:861 OMIM:616494 OMIM:618603 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:614381 OMIM:619234 OMIM:619310 OMIM:619743 ORPHA:71526 OMIM:609734 OMIM:618048 OMIM:617396 OMIM:201750 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:613038 ORPHA:1435 OMIM:620024 OMIM:259440 OMIM:617450 ORPHA:2701 OMIM:617506 OMIM:616817 ORPHA:391408 OMIM:618419 OMIM:616355 OMIM:618265 OMIM:617711 ORPHA:93946 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 OMIM:619909 OMIM:619761 ORPHA:163690 OMIM:616224 OMIM:603553 OMIM:620005 OMIM:615830 OMIM:101800 OMIM:160980 OMIM:610489 OMIM:619680 OMIM:615966 OMIM:619636 OMIM:619638 OMIM:617157 ORPHA:464288 OMIM:600072 OMIM:137440 ORPHA:157941 OMIM:610628 ORPHA:90695 OMIM:262600 OMIM:619737 OMIM:301835 OMIM:300661 ORPHA:423479 OMIM:619539 OMIM:616038 ORPHA:284417 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:620071 OMIM:614324 ORPHA:79350 OMIM:614023 OMIM:619057 ORPHA:77301 OMIM:151050 ORPHA:2658 ORPHA:109 OMIM:605309 ORPHA:2969 ORPHA:137608 OMIM:615935 OMIM:609069 ORPHA:50945 ORPHA:79106 OMIM:600002 OMIM:156400 OMIM:613382 OMIM:151100 ORPHA:456312 OMIM:616263 OMIM:261640 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:617931 ORPHA:2598 OMIM:600462 ORPHA:488627 OMIM:618342 OMIM:612940 OMIM:614438 OMIM:616420 ORPHA:481152 ORPHA:369 OMIM:232700 OMIM:617258 OMIM:617982 OMIM:618835 ORPHA:2510 OMIM:614222 OMIM:201000 OMIM:615222 OMIM:300271 ORPHA:1387 OMIM:619420 OMIM:600118 OMIM:212720 OMIM:614225 OMIM:617751 OMIM:618987 OMIM:614701 OMIM:613078 OMIM:617244 OMIM:613390 OMIM:611554 OMIM:611553 ORPHA:331206 OMIM:601457 ORPHA:1713 ORPHA:477817 OMIM:182290 OMIM:616326 ORPHA:2470 OMIM:611523 ORPHA:90307 OMIM:618534 ORPHA:1587 OMIM:606744 OMIM:615895 ORPHA:2886 OMIM:311900 OMIM:612079 ORPHA:157954 OMIM:274000 OMIM:300238 OMIM:616108 ORPHA:436245 OMIM:218600 ORPHA:1225 OMIM:266280 ORPHA:221016 OMIM:268400 OMIM:617585 OMIM:616975 ORPHA:494344 OMIM:162300 OMIM:612015 ORPHA:244310 OMIM:617784 OMIM:615710 ORPHA:71275 ORPHA:2198 OMIM:616298 OMIM:613075 OMIM:618641 OMIM:618108 OMIM:263650 OMIM:615355 OMIM:300978 OMIM:607095 ORPHA:175 OMIM:250250 OMIM:250460 OMIM:610333 OMIM:300953 OMIM:616260 OMIM:618379 ORPHA:544503 ORPHA:137634 OMIM:611943 ORPHA:420741 OMIM:619460 OMIM:618160 OMIM:226960 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:619487 ORPHA:1946 OMIM:268310 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:612562 OMIM:618728 OMIM:614900 OMIM:612528 OMIM:612561 OMIM:613308 OMIM:612527 OMIM:105650 OMIM:617412 OMIM:613309 OMIM:606164 OMIM:303600 ORPHA:192 OMIM:300844 ORPHA:276630 OMIM:612563 OMIM:612075 OMIM:268315 OMIM:612649 OMIM:612650 ORPHA:457395 OMIM:616723 OMIM:615190 ORPHA:468631 OMIM:614833 OMIM:119600 ORPHA:1452 OMIM:156510 ORPHA:98905 ORPHA:424107 OMIM:619542 OMIM:107480 ORPHA:959 ORPHA:2307 OMIM:617053 ORPHA:71 OMIM:246700 OMIM:617709 OMIM:613845 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:607330 ORPHA:46059 OMIM:617938 ORPHA:99735 ORPHA:171876 OMIM:264350 OMIM:619048 OMIM:619184 OMIM:615993 ORPHA:3208 OMIM:252011 OMIM:619166 ORPHA:97286 OMIM:607812 ORPHA:50814 OMIM:616294 OMIM:618651 OMIM:617056 ORPHA:171706 OMIM:609698 ORPHA:506353 OMIM:602771 OMIM:162100 ORPHA:2901 OMIM:614739 OMIM:613848 OMIM:618106 OMIM:616078 OMIM:269150 ORPHA:798 OMIM:619056 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:154400 ORPHA:1788 OMIM:265120 OMIM:610913 OMIM:615578 OMIM:126550 OMIM:616201 OMIM:252900 ORPHA:261222 ORPHA:261197 ORPHA:329249 OMIM:300310 OMIM:249420 ORPHA:99949 ORPHA:48652 OMIM:606232 OMIM:147250 OMIM:619121 OMIM:607721 OMIM:249700 ORPHA:2632 ORPHA:240 OMIM:127300 OMIM:300582 ORPHA:314795 ORPHA:440713 OMIM:619922 ORPHA:85288 OMIM:618162 OMIM:248800 ORPHA:171829 ORPHA:369873 ORPHA:398079 ORPHA:94065 OMIM:613406 ORPHA:488437 OMIM:206900 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:613291 OMIM:618363 ORPHA:3389 OMIM:601678 OMIM:263800 ORPHA:59 OMIM:269920 OMIM:604369 OMIM:249270 ORPHA:49827 OMIM:212140 ORPHA:247585 OMIM:605814 ORPHA:247598 OMIM:238970 ORPHA:415 OMIM:618811 OMIM:612289 ORPHA:2095 ORPHA:2963 ORPHA:91130 OMIM:615418 ORPHA:93298 OMIM:600972 ORPHA:56304 ORPHA:628 OMIM:222600 OMIM:226900 ORPHA:93307 OMIM:214700 ORPHA:1782 ORPHA:168569 OMIM:602782 ORPHA:168577 OMIM:608885 OMIM:227810 ORPHA:2088 OMIM:617595 OMIM:613388 ORPHA:157215 OMIM:616963 ORPHA:60025 OMIM:241530 OMIM:300896 ORPHA:356961 OMIM:266265 ORPHA:99843 OMIM:269250 OMIM:619525 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:612350 ORPHA:157965 ORPHA:37 OMIM:201100 OMIM:619693 OMIM:616721 ORPHA:468699 OMIM:229050 ORPHA:90045 OMIM:611590 OMIM:604278 OMIM:619484 ORPHA:35710 OMIM:606824 ORPHA:69076 OMIM:274400 OMIM:234500 OMIM:300352 ORPHA:52503 ORPHA:470 OMIM:222700 OMIM:616291 ORPHA:85278 OMIM:300243 OMIM:613951 OMIM:619657 OMIM:619656 ORPHA:284984 OMIM:613795 ORPHA:2588 OMIM:139210 ORPHA:2728 OMIM:601358 ORPHA:3051 OMIM:614609 OMIM:242900 ORPHA:1830 OMIM:614608 OMIM:618362 OMIM:617475 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:619268 OMIM:619995 OMIM:616920 OMIM:241800 OMIM:206920 ORPHA:1106 ORPHA:77293 OMIM:257200 OMIM:607616 OMIM:618622 OMIM:309583 ORPHA:3063 ORPHA:66631 OMIM:609528 OMIM:605543 OMIM:117650 ORPHA:1393 OMIM:105830 ORPHA:177907 OMIM:615085 OMIM:617690 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:616559 ORPHA:1513 OMIM:122860 OMIM:269500 OMIM:609136 OMIM:615866 ORPHA:77298 OMIM:300123 OMIM:312000 ORPHA:67045 ORPHA:140 OMIM:114290 ORPHA:79124 OMIM:613849 OMIM:616507 ORPHA:101000 OMIM:275900 OMIM:616577 OMIM:145420 OMIM:619312 ORPHA:2822 OMIM:604360 OMIM:619665 OMIM:256500 ORPHA:634 OMIM:618829 ORPHA:70594 OMIM:612716 ORPHA:137605 OMIM:619745 OMIM:616200 OMIM:619475 ORPHA:2044 OMIM:136140 OMIM:612379 OMIM:618752 ORPHA:1772 OMIM:400045 OMIM:400044 OMIM:300934 ORPHA:370927 OMIM:609056 OMIM:255995 ORPHA:168572 OMIM:617635 ORPHA:502434 OMIM:301022 ORPHA:521258 OMIM:614261 ORPHA:391487 OMIM:614162 OMIM:615952 OMIM:618985 OMIM:245590 OMIM:615234 ORPHA:300298 OMIM:301013 OMIM:185070 OMIM:615934 OMIM:617341 OMIM:601186 OMIM:611087 ORPHA:500533 ORPHA:281090 OMIM:615596 OMIM:619714 ORPHA:370921 OMIM:615597 ORPHA:370924 ORPHA:412057 OMIM:618093 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:245400 OMIM:617757 ORPHA:35706 OMIM:231690 ORPHA:585 OMIM:272200 OMIM:220110 OMIM:618786 OMIM:619381 OMIM:618484 ORPHA:319332 OMIM:619461 ORPHA:228410 OMIM:619052 OMIM:300966 ORPHA:480907 OMIM:617432 OMIM:617126 OMIM:302060 OMIM:606003 OMIM:619575 OMIM:616897 OMIM:618950 OMIM:276600 OMIM:615663 OMIM:617695 ORPHA:397973 ORPHA:496641 OMIM:617193 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 OMIM:602342 ORPHA:487825 ORPHA:1617 ORPHA:1727 OMIM:188400 OMIM:260660 ORPHA:93333 OMIM:618223 ORPHA:921 OMIM:302905 ORPHA:3138 OMIM:181450 ORPHA:261279 ORPHA:238578 OMIM:147891 ORPHA:1797 OMIM:122600 OMIM:619718 OMIM:618430 OMIM:619824 ORPHA:2896 OMIM:259700 OMIM:275350 OMIM:614815 OMIM:258860 ORPHA:2753 ORPHA:320385 OMIM:615031 ORPHA:488642 OMIM:613989 OMIM:617156 ORPHA:1297 OMIM:113620 OMIM:301066 OMIM:616740 OMIM:616145 ORPHA:1388 ORPHA:1328 OMIM:131300 OMIM:618213 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:618800 OMIM:300957 ORPHA:457240 OMIM:614450 OMIM:274300 OMIM:619825 OMIM:619989 OMIM:619908 OMIM:618851 ORPHA:505216 OMIM:617698 OMIM:618251 OMIM:613990 OMIM:268130 OMIM:607748 ORPHA:254875 OMIM:618805 OMIM:617044 ORPHA:488618 OMIM:618050 ORPHA:99106 OMIM:301078 ORPHA:1394 OMIM:213980 OMIM:617964 OMIM:618250 OMIM:614727 OMIM:608091 OMIM:603194 OMIM:619562 OMIM:614424 OMIM:615066 OMIM:619727 OMIM:216360 OMIM:613550 OMIM:602152 ORPHA:140976 OMIM:614052 ORPHA:1194 OMIM:226200 ORPHA:2801 OMIM:612301 OMIM:239000 OMIM:601680 OMIM:619556 OMIM:619185 OMIM:619510 ORPHA:93357 OMIM:271510 OMIM:618097 OMIM:618947 OMIM:618165 OMIM:617730 ORPHA:1896 OMIM:129400 OMIM:615512 OMIM:108120 OMIM:615387 OMIM:616629 OMIM:616777 OMIM:618201 OMIM:620027 OMIM:615356 ORPHA:93284 OMIM:313400 OMIM:617862 ORPHA:352530 OMIM:613192 OMIM:225750 OMIM:275120 OMIM:618573 ORPHA:99832 OMIM:615988 ORPHA:1878 ORPHA:2576 OMIM:253250 OMIM:619428 ORPHA:476126 ORPHA:93299 OMIM:200600 ORPHA:166272 OMIM:184260 OMIM:617752 OMIM:617598 ORPHA:486815 OMIM:617873 OMIM:618302 OMIM:616033 OMIM:616974 OMIM:616539 OMIM:616084 ORPHA:77258 OMIM:190350 OMIM:190351 ORPHA:93304 ORPHA:1216 OMIM:113500 OMIM:606071 OMIM:156530 ORPHA:2635 OMIM:168400 ORPHA:93314 OMIM:184252 OMIM:618454 OMIM:610505 OMIM:275100 ORPHA:90674 ORPHA:99819 ORPHA:424 OMIM:609152 OMIM:608800 ORPHA:168593 OMIM:613819 OMIM:619534 OMIM:243150 OMIM:615985 OMIM:615541 ORPHA:391307 ORPHA:85447 OMIM:616188 ORPHA:300570 OMIM:128101 OMIM:612438 ORPHA:98805 OMIM:251270 OMIM:610678 ORPHA:920 ORPHA:1231 OMIM:608572 OMIM:620040 OMIM:619959 OMIM:617132 OMIM:300860 OMIM:616435 ORPHA:238446 ORPHA:411511 OMIM:244450 ORPHA:2707 OMIM:619639 OMIM:243800 ORPHA:2315 OMIM:619189 OMIM:617672 ORPHA:276556 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:617974 OMIM:258900 OMIM:619377 OMIM:619178 OMIM:616801 OMIM:300676 OMIM:615824 OMIM:616111 OMIM:615160 OMIM:618775 OMIM:276880 OMIM:263700 OMIM:604173 ORPHA:500055 OMIM:300968 OMIM:300919 ORPHA:480880 OMIM:615917 ORPHA:93160 OMIM:277440 OMIM:263400 OMIM:613404 OMIM:224050 ORPHA:466934 ORPHA:2388 OMIM:216550 ORPHA:193 OMIM:620010 OMIM:208085 OMIM:619135 ORPHA:319199 OMIM:615285 OMIM:618606 OMIM:615851 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 OMIM:615817 OMIM:220210 OMIM:619227 OMIM:614378 OMIM:614377 OMIM:614376 ORPHA:513456 OMIM:613610 OMIM:614091 OMIM:618347 OMIM:618346 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:222300 ORPHA:411590 OMIM:618453 OMIM:619648 OMIM:615220 OMIM:618168 OMIM:611812 ORPHA:247768 ORPHA:139466 OMIM:228930 ORPHA:2879 OMIM:276820 OMIM:277700 ORPHA:902 OMIM:614322 OMIM:617247 OMIM:616541 OMIM:615777 ORPHA:370930 ORPHA:85194 OMIM:605822 OMIM:619418 OMIM:613561 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:617557 ORPHA:506358 OMIM:602531 ORPHA:911 OMIM:269840 ORPHA:36367 OMIM:612337 ORPHA:3042 OMIM:259050 OMIM:614069 OMIM:619769 OMIM:314580 OMIM:301041 OMIM:300799 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:306955 OMIM:618659 ORPHA:90154 OMIM:608612 OMIM:275210 OMIM:619522 OMIM:617260 OMIM:619188 OMIM:615095 OMIM:619557 OMIM:229200 OMIM:619488 OMIM:300803 OMIM:619644 OMIM:619321 OMIM:617865 OMIM:619834

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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