Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001510	HP:0001510	Growth delay	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0001510	HP:0001510	Growth delay	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0001510	HP:0001510	Growth delay	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001510	HP:0001510	Growth delay	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001510	HP:0001510	Growth delay	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0001510	HP:0001510	Growth delay	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0001510	HP:0001510	Growth delay	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0001510	HP:0001510	Growth delay	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis		130
HP:0001510	HP:0001510	Growth delay	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0001510	HP:0001510	Growth delay	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria		20
HP:0001510	HP:0001510	Growth delay	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia		35
HP:0001510	HP:0001510	Growth delay	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0001510	HP:0001510	Growth delay	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0001510	HP:0001510	Growth delay	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0001510	HP:0001510	Growth delay	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease		135
HP:0001510	HP:0001510	Growth delay	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0001510	HP:0001510	Growth delay	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0001510	HP:0001510	Growth delay	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0001510	HP:0001510	Growth delay	0	ACACA CL E G H	31	84	OMIM:613933	Acetyl-CoA carboxylase deficiency	.
HP:0001510	HP:0001510	Growth delay	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0001510	HP:0001510	Growth delay	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:0001510	HP:0001510	Growth delay	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0001510	HP:0001510	Growth delay	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0001510	HP:0001510	Growth delay	0	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type		34
HP:0001510	HP:0001510	Growth delay	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type		34
HP:0001510	HP:0001510	Growth delay	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6		11
HP:0001510	HP:0001510	Growth delay	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0001510	HP:0001510	Growth delay	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0001510	HP:0001510	Growth delay	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0001510	HP:0001510	Growth delay	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001510	HP:0001510	Growth delay	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0001510	HP:0001510	Growth delay	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0001510	HP:0001510	Growth delay	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome		72
HP:0001510	HP:0001510	Growth delay	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0001510	HP:0001510	Growth delay	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0001510	HP:0001510	Growth delay	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		2
HP:0001510	HP:0001510	Growth delay	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001510	HP:0001510	Growth delay	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome		63
HP:0001510	HP:0001510	Growth delay	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0001510	HP:0001510	Growth delay	0	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4		214
HP:0001510	HP:0001510	Growth delay	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0001510	HP:0001510	Growth delay	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0001510	HP:0001510	Growth delay	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0001510	HP:0001510	Growth delay	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0001510	HP:0001510	Growth delay	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0001510	HP:0001510	Growth delay	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001510	HP:0001510	Growth delay	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0001510	HP:0001510	Growth delay	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0001510	HP:0001510	Growth delay	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0001510	HP:0001510	Growth delay	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0001510	HP:0001510	Growth delay	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0001510	HP:0001510	Growth delay	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0001510	HP:0001510	Growth delay	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001510	HP:0001510	Growth delay	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0001510	HP:0001510	Growth delay	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0001510	HP:0001510	Growth delay	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0001510	HP:0001510	Growth delay	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability		59
HP:0001510	HP:0001510	Growth delay	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0001510	HP:0001510	Growth delay	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0001510	HP:0001510	Growth delay	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0001510	HP:0001510	Growth delay	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:0001510	HP:0001510	Growth delay	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001510	HP:0001510	Growth delay	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0001510	HP:0001510	Growth delay	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency		216
HP:0001510	HP:0001510	Growth delay	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III		216
HP:0001510	HP:0001510	Growth delay	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3		117
HP:0001510	HP:0001510	Growth delay	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001510	HP:0001510	Growth delay	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	5
HP:0001510	HP:0001510	Growth delay	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0001510	HP:0001510	Growth delay	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0001510	HP:0001510	Growth delay	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma		95
HP:0001510	HP:0001510	Growth delay	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001510	HP:0001510	Growth delay	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0001510	HP:0001510	Growth delay	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001510	HP:0001510	Growth delay	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0001510	HP:0001510	Growth delay	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0001510	HP:0001510	Growth delay	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0001510	HP:0001510	Growth delay	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0001510	HP:0001510	Growth delay	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0001510	HP:0001510	Growth delay	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome		87
HP:0001510	HP:0001510	Growth delay	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0001510	HP:0001510	Growth delay	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional	50
HP:0001510	HP:0001510	Growth delay	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0001510	HP:0001510	Growth delay	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040282 - Frequent	73
HP:0001510	HP:0001510	Growth delay	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik		58
HP:0001510	HP:0001510	Growth delay	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001510	HP:0001510	Growth delay	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0001510	HP:0001510	Growth delay	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001510	HP:0001510	Growth delay	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0001510	HP:0001510	Growth delay	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001510	HP:0001510	Growth delay	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0001510	HP:0001510	Growth delay	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001510	HP:0001510	Growth delay	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0001510	HP:0001510	Growth delay	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0001510	HP:0001510	Growth delay	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0001510	HP:0001510	Growth delay	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis		75
HP:0001510	HP:0001510	Growth delay	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0001510	HP:0001510	Growth delay	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0001510	HP:0001510	Growth delay	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis		63
HP:0001510	HP:0001510	Growth delay	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood		126
HP:0001510	HP:0001510	Growth delay	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0001510	HP:0001510	Growth delay	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0001510	HP:0001510	Growth delay	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0001510	HP:0001510	Growth delay	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0001510	HP:0001510	Growth delay	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0001510	HP:0001510	Growth delay	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0001510	HP:0001510	Growth delay	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0001510	HP:0001510	Growth delay	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0001510	HP:0001510	Growth delay	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63		21
HP:0001510	HP:0001510	Growth delay	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0001510	HP:0001510	Growth delay	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0001510	HP:0001510	Growth delay	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0001510	HP:0001510	Growth delay	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0001510	HP:0001510	Growth delay	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	150
HP:0001510	HP:0001510	Growth delay	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	3
HP:0001510	HP:0001510	Growth delay	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive		3
HP:0001510	HP:0001510	Growth delay	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0001510	HP:0001510	Growth delay	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0001510	HP:0001510	Growth delay	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0001510	HP:0001510	Growth delay	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0001510	HP:0001510	Growth delay	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001510	HP:0001510	Growth delay	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0001510	HP:0001510	Growth delay	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0001510	HP:0001510	Growth delay	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0001510	HP:0001510	Growth delay	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0001510	HP:0001510	Growth delay	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001510	HP:0001510	Growth delay	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0001510	HP:0001510	Growth delay	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome		13
HP:0001510	HP:0001510	Growth delay	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		7
HP:0001510	HP:0001510	Growth delay	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0001510	HP:0001510	Growth delay	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0001510	HP:0001510	Growth delay	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0001510	HP:0001510	Growth delay	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0001510	HP:0001510	Growth delay	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0001510	HP:0001510	Growth delay	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0001510	HP:0001510	Growth delay	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0001510	HP:0001510	Growth delay	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0001510	HP:0001510	Growth delay	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0001510	HP:0001510	Growth delay	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional	75
HP:0001510	HP:0001510	Growth delay	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0001510	HP:0001510	Growth delay	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0001510	HP:0001510	Growth delay	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0001510	HP:0001510	Growth delay	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0001510	HP:0001510	Growth delay	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0001510	HP:0001510	Growth delay	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0001510	HP:0001510	Growth delay	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0001510	HP:0001510	Growth delay	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001510	HP:0001510	Growth delay	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0001510	HP:0001510	Growth delay	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0001510	HP:0001510	Growth delay	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0001510	HP:0001510	Growth delay	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0001510	HP:0001510	Growth delay	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001510	HP:0001510	Growth delay	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001510	HP:0001510	Growth delay	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0001510	HP:0001510	Growth delay	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001510	HP:0001510	Growth delay	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001510	HP:0001510	Growth delay	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0001510	HP:0001510	Growth delay	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0001510	HP:0001510	Growth delay	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0001510	HP:0001510	Growth delay	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0001510	HP:0001510	Growth delay	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0001510	HP:0001510	Growth delay	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0001510	HP:0001510	Growth delay	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001510	HP:0001510	Growth delay	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria		81
HP:0001510	HP:0001510	Growth delay	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	512
HP:0001510	HP:0001510	Growth delay	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0001510	HP:0001510	Growth delay	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis		1
HP:0001510	HP:0001510	Growth delay	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0001510	HP:0001510	Growth delay	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0001510	HP:0001510	Growth delay	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0001510	HP:0001510	Growth delay	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001510	HP:0001510	Growth delay	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0001510	HP:0001510	Growth delay	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001510	HP:0001510	Growth delay	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040284 - Very rare	71
HP:0001510	HP:0001510	Growth delay	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0001510	HP:0001510	Growth delay	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001510	HP:0001510	Growth delay	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001510	HP:0001510	Growth delay	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		239
HP:0001510	HP:0001510	Growth delay	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		150
HP:0001510	HP:0001510	Growth delay	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0001510	HP:0001510	Growth delay	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001510	HP:0001510	Growth delay	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0001510	HP:0001510	Growth delay	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0001510	HP:0001510	Growth delay	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0001510	HP:0001510	Growth delay	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001510	HP:0001510	Growth delay	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0001510	HP:0001510	Growth delay	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0001510	HP:0001510	Growth delay	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0001510	HP:0001510	Growth delay	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0001510	HP:0001510	Growth delay	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0001510	HP:0001510	Growth delay	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0001510	HP:0001510	Growth delay	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0001510	HP:0001510	Growth delay	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0001510	HP:0001510	Growth delay	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease		192
HP:0001510	HP:0001510	Growth delay	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0001510	HP:0001510	Growth delay	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0001510	HP:0001510	Growth delay	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome		24
HP:0001510	HP:0001510	Growth delay	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0001510	HP:0001510	Growth delay	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0001510	HP:0001510	Growth delay	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0001510	HP:0001510	Growth delay	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0001510	HP:0001510	Growth delay	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0001510	HP:0001510	Growth delay	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001510	HP:0001510	Growth delay	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0001510	HP:0001510	Growth delay	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0001510	HP:0001510	Growth delay	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0001510	HP:0001510	Growth delay	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent	22
HP:0001510	HP:0001510	Growth delay	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0001510	HP:0001510	Growth delay	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional	67
HP:0001510	HP:0001510	Growth delay	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0001510	HP:0001510	Growth delay	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0001510	HP:0001510	Growth delay	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		38
HP:0001510	HP:0001510	Growth delay	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0001510	HP:0001510	Growth delay	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:0001510	HP:0001510	Growth delay	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0001510	HP:0001510	Growth delay	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0001510	HP:0001510	Growth delay	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0001510	HP:0001510	Growth delay	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0001510	HP:0001510	Growth delay	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0001510	HP:0001510	Growth delay	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0001510	HP:0001510	Growth delay	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001510	HP:0001510	Growth delay	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0001510	HP:0001510	Growth delay	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0001510	HP:0001510	Growth delay	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0001510	HP:0001510	Growth delay	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0001510	HP:0001510	Growth delay	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0001510	HP:0001510	Growth delay	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0001510	HP:0001510	Growth delay	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0001510	HP:0001510	Growth delay	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0001510	HP:0001510	Growth delay	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0001510	HP:0001510	Growth delay	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome		8
HP:0001510	HP:0001510	Growth delay	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0001510	HP:0001510	Growth delay	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001510	HP:0001510	Growth delay	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0001510	HP:0001510	Growth delay	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0001510	HP:0001510	Growth delay	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001510	HP:0001510	Growth delay	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0001510	HP:0001510	Growth delay	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0001510	HP:0001510	Growth delay	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0001510	HP:0001510	Growth delay	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0001510	HP:0001510	Growth delay	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0001510	HP:0001510	Growth delay	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0001510	HP:0001510	Growth delay	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0001510	HP:0001510	Growth delay	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0001510	HP:0001510	Growth delay	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent	314
HP:0001510	HP:0001510	Growth delay	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001510	HP:0001510	Growth delay	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0001510	HP:0001510	Growth delay	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0001510	HP:0001510	Growth delay	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0001510	HP:0001510	Growth delay	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0001510	HP:0001510	Growth delay	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0001510	HP:0001510	Growth delay	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0001510	HP:0001510	Growth delay	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional	385
HP:0001510	HP:0001510	Growth delay	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0001510	HP:0001510	Growth delay	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0001510	HP:0001510	Growth delay	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0001510	HP:0001510	Growth delay	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0001510	HP:0001510	Growth delay	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0001510	HP:0001510	Growth delay	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0001510	HP:0001510	Growth delay	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0001510	HP:0001510	Growth delay	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0001510	HP:0001510	Growth delay	0	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0001510	HP:0001510	Growth delay	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0001510	HP:0001510	Growth delay	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0001510	HP:0001510	Growth delay	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001510	HP:0001510	Growth delay	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0001510	HP:0001510	Growth delay	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0001510	HP:0001510	Growth delay	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001510	HP:0001510	Growth delay	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0001510	HP:0001510	Growth delay	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0001510	HP:0001510	Growth delay	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001510	HP:0001510	Growth delay	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0001510	HP:0001510	Growth delay	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001510	HP:0001510	Growth delay	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001510	HP:0001510	Growth delay	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0001510	HP:0001510	Growth delay	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001510	HP:0001510	Growth delay	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0001510	HP:0001510	Growth delay	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0001510	HP:0001510	Growth delay	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001510	HP:0001510	Growth delay	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0001510	HP:0001510	Growth delay	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	HP:0040283 - Occasional	10
HP:0001510	HP:0001510	Growth delay	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001510	HP:0001510	Growth delay	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0001510	HP:0001510	Growth delay	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001510	HP:0001510	Growth delay	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001510	HP:0001510	Growth delay	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0001510	HP:0001510	Growth delay	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001510	HP:0001510	Growth delay	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001510	HP:0001510	Growth delay	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0001510	HP:0001510	Growth delay	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0001510	HP:0001510	Growth delay	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0001510	HP:0001510	Growth delay	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001510	HP:0001510	Growth delay	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001510	HP:0001510	Growth delay	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0001510	HP:0001510	Growth delay	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome		8
HP:0001510	HP:0001510	Growth delay	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		449
HP:0001510	HP:0001510	Growth delay	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		5
HP:0001510	HP:0001510	Growth delay	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0001510	HP:0001510	Growth delay	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		59
HP:0001510	HP:0001510	Growth delay	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0001510	HP:0001510	Growth delay	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001510	HP:0001510	Growth delay	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0001510	HP:0001510	Growth delay	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0001510	HP:0001510	Growth delay	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0001510	HP:0001510	Growth delay	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0001510	HP:0001510	Growth delay	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0001510	HP:0001510	Growth delay	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0001510	HP:0001510	Growth delay	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001510	HP:0001510	Growth delay	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0001510	HP:0001510	Growth delay	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001510	HP:0001510	Growth delay	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001510	HP:0001510	Growth delay	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0001510	HP:0001510	Growth delay	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0001510	HP:0001510	Growth delay	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0001510	HP:0001510	Growth delay	0	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism		272
HP:0001510	HP:0001510	Growth delay	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0001510	HP:0001510	Growth delay	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0001510	HP:0001510	Growth delay	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0001510	HP:0001510	Growth delay	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0001510	HP:0001510	Growth delay	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0001510	HP:0001510	Growth delay	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0001510	HP:0001510	Growth delay	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001510	HP:0001510	Growth delay	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0001510	HP:0001510	Growth delay	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0001510	HP:0001510	Growth delay	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001510	HP:0001510	Growth delay	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0001510	HP:0001510	Growth delay	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0001510	HP:0001510	Growth delay	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0001510	HP:0001510	Growth delay	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0001510	HP:0001510	Growth delay	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0001510	HP:0001510	Growth delay	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		8
HP:0001510	HP:0001510	Growth delay	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		8
HP:0001510	HP:0001510	Growth delay	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0001510	HP:0001510	Growth delay	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0001510	HP:0001510	Growth delay	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0001510	HP:0001510	Growth delay	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0001510	HP:0001510	Growth delay	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0001510	HP:0001510	Growth delay	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001510	HP:0001510	Growth delay	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0001510	HP:0001510	Growth delay	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0001510	HP:0001510	Growth delay	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0001510	HP:0001510	Growth delay	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0001510	HP:0001510	Growth delay	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0001510	HP:0001510	Growth delay	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0001510	HP:0001510	Growth delay	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma		636
HP:0001510	HP:0001510	Growth delay	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0001510	HP:0001510	Growth delay	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration		87
HP:0001510	HP:0001510	Growth delay	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0001510	HP:0001510	Growth delay	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0001510	HP:0001510	Growth delay	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0001510	HP:0001510	Growth delay	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001510	HP:0001510	Growth delay	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	181
HP:0001510	HP:0001510	Growth delay	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0001510	HP:0001510	Growth delay	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	6
HP:0001510	HP:0001510	Growth delay	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0001510	HP:0001510	Growth delay	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0001510	HP:0001510	Growth delay	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0001510	HP:0001510	Growth delay	0	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		114
HP:0001510	HP:0001510	Growth delay	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0001510	HP:0001510	Growth delay	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0001510	HP:0001510	Growth delay	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0001510	HP:0001510	Growth delay	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0001510	HP:0001510	Growth delay	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0001510	HP:0001510	Growth delay	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	200
HP:0001510	HP:0001510	Growth delay	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0001510	HP:0001510	Growth delay	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0001510	HP:0001510	Growth delay	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0001510	HP:0001510	Growth delay	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0001510	HP:0001510	Growth delay	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0001510	HP:0001510	Growth delay	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001510	HP:0001510	Growth delay	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0001510	HP:0001510	Growth delay	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0001510	HP:0001510	Growth delay	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	161
HP:0001510	HP:0001510	Growth delay	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0001510	HP:0001510	Growth delay	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4		161
HP:0001510	HP:0001510	Growth delay	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001510	HP:0001510	Growth delay	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome		7
HP:0001510	HP:0001510	Growth delay	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0001510	HP:0001510	Growth delay	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	38
HP:0001510	HP:0001510	Growth delay	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	146
HP:0001510	HP:0001510	Growth delay	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0001510	HP:0001510	Growth delay	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0001510	HP:0001510	Growth delay	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome		34
HP:0001510	HP:0001510	Growth delay	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0001510	HP:0001510	Growth delay	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0001510	HP:0001510	Growth delay	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0001510	HP:0001510	Growth delay	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome		342
HP:0001510	HP:0001510	Growth delay	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001510	HP:0001510	Growth delay	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001510	HP:0001510	Growth delay	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	31
HP:0001510	HP:0001510	Growth delay	0	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6		31
HP:0001510	HP:0001510	Growth delay	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0001510	HP:0001510	Growth delay	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0001510	HP:0001510	Growth delay	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0001510	HP:0001510	Growth delay	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0001510	HP:0001510	Growth delay	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0001510	HP:0001510	Growth delay	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome		2
HP:0001510	HP:0001510	Growth delay	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0001510	HP:0001510	Growth delay	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001510	HP:0001510	Growth delay	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0001510	HP:0001510	Growth delay	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0001510	HP:0001510	Growth delay	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0001510	HP:0001510	Growth delay	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001510	HP:0001510	Growth delay	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0001510	HP:0001510	Growth delay	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0001510	HP:0001510	Growth delay	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome		52
HP:0001510	HP:0001510	Growth delay	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0001510	HP:0001510	Growth delay	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0001510	HP:0001510	Growth delay	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0001510	HP:0001510	Growth delay	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0001510	HP:0001510	Growth delay	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0001510	HP:0001510	Growth delay	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia		165
HP:0001510	HP:0001510	Growth delay	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:0001510	HP:0001510	Growth delay	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0001510	HP:0001510	Growth delay	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0001510	HP:0001510	Growth delay	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0001510	HP:0001510	Growth delay	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	15
HP:0001510	HP:0001510	Growth delay	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive		15
HP:0001510	HP:0001510	Growth delay	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0001510	HP:0001510	Growth delay	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0001510	HP:0001510	Growth delay	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0001510	HP:0001510	Growth delay	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0001510	HP:0001510	Growth delay	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0001510	HP:0001510	Growth delay	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0001510	HP:0001510	Growth delay	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis		102
HP:0001510	HP:0001510	Growth delay	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0001510	HP:0001510	Growth delay	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0001510	HP:0001510	Growth delay	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0001510	HP:0001510	Growth delay	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0001510	HP:0001510	Growth delay	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001510	HP:0001510	Growth delay	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome		7
HP:0001510	HP:0001510	Growth delay	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0001510	HP:0001510	Growth delay	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0001510	HP:0001510	Growth delay	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0001510	HP:0001510	Growth delay	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.	38
HP:0001510	HP:0001510	Growth delay	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3		13
HP:0001510	HP:0001510	Growth delay	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0001510	HP:0001510	Growth delay	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0001510	HP:0001510	Growth delay	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		18
HP:0001510	HP:0001510	Growth delay	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis		2
HP:0001510	HP:0001510	Growth delay	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0001510	HP:0001510	Growth delay	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0001510	HP:0001510	Growth delay	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0001510	HP:0001510	Growth delay	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0001510	HP:0001510	Growth delay	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0001510	HP:0001510	Growth delay	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0001510	HP:0001510	Growth delay	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type		67
HP:0001510	HP:0001510	Growth delay	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0001510	HP:0001510	Growth delay	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0001510	HP:0001510	Growth delay	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0001510	HP:0001510	Growth delay	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001510	HP:0001510	Growth delay	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001510	HP:0001510	Growth delay	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0001510	HP:0001510	Growth delay	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0001510	HP:0001510	Growth delay	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0001510	HP:0001510	Growth delay	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome		215
HP:0001510	HP:0001510	Growth delay	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome		215
HP:0001510	HP:0001510	Growth delay	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0001510	HP:0001510	Growth delay	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0001510	HP:0001510	Growth delay	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0001510	HP:0001510	Growth delay	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0001510	HP:0001510	Growth delay	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0001510	HP:0001510	Growth delay	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0001510	HP:0001510	Growth delay	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0001510	HP:0001510	Growth delay	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0001510	HP:0001510	Growth delay	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0001510	HP:0001510	Growth delay	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0001510	HP:0001510	Growth delay	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0001510	HP:0001510	Growth delay	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0001510	HP:0001510	Growth delay	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0001510	HP:0001510	Growth delay	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV		373
HP:0001510	HP:0001510	Growth delay	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0001510	HP:0001510	Growth delay	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0001510	HP:0001510	Growth delay	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0001510	HP:0001510	Growth delay	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0001510	HP:0001510	Growth delay	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0001510	HP:0001510	Growth delay	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV		243
HP:0001510	HP:0001510	Growth delay	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome		1
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040281 - Very frequent	284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0001510	HP:0001510	Growth delay	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0001510	HP:0001510	Growth delay	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0001510	HP:0001510	Growth delay	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0001510	HP:0001510	Growth delay	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0001510	HP:0001510	Growth delay	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0001510	HP:0001510	Growth delay	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001510	HP:0001510	Growth delay	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0001510	HP:0001510	Growth delay	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent	263
HP:0001510	HP:0001510	Growth delay	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent	263
HP:0001510	HP:0001510	Growth delay	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0001510	HP:0001510	Growth delay	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0001510	HP:0001510	Growth delay	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0001510	HP:0001510	Growth delay	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0001510	HP:0001510	Growth delay	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0001510	HP:0001510	Growth delay	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0001510	HP:0001510	Growth delay	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0001510	HP:0001510	Growth delay	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0001510	HP:0001510	Growth delay	0	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V		110
HP:0001510	HP:0001510	Growth delay	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome		137
HP:0001510	HP:0001510	Growth delay	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0001510	HP:0001510	Growth delay	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0001510	HP:0001510	Growth delay	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0001510	HP:0001510	Growth delay	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.	3
HP:0001510	HP:0001510	Growth delay	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0001510	HP:0001510	Growth delay	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0001510	HP:0001510	Growth delay	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0001510	HP:0001510	Growth delay	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0001510	HP:0001510	Growth delay	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001510	HP:0001510	Growth delay	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0001510	HP:0001510	Growth delay	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0001510	HP:0001510	Growth delay	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001510	HP:0001510	Growth delay	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome		54
HP:0001510	HP:0001510	Growth delay	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7		24
HP:0001510	HP:0001510	Growth delay	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0001510	HP:0001510	Growth delay	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5		44
HP:0001510	HP:0001510	Growth delay	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia		5
HP:0001510	HP:0001510	Growth delay	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001510	HP:0001510	Growth delay	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001510	HP:0001510	Growth delay	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001510	HP:0001510	Growth delay	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001510	HP:0001510	Growth delay	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001510	HP:0001510	Growth delay	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0001510	HP:0001510	Growth delay	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0001510	HP:0001510	Growth delay	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0001510	HP:0001510	Growth delay	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0001510	HP:0001510	Growth delay	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0001510	HP:0001510	Growth delay	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001510	HP:0001510	Growth delay	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001510	HP:0001510	Growth delay	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001510	HP:0001510	Growth delay	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0001510	HP:0001510	Growth delay	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001510	HP:0001510	Growth delay	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0001510	HP:0001510	Growth delay	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001510	HP:0001510	Growth delay	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0001510	HP:0001510	Growth delay	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0001510	HP:0001510	Growth delay	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0001510	HP:0001510	Growth delay	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001510	HP:0001510	Growth delay	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0001510	HP:0001510	Growth delay	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001510	HP:0001510	Growth delay	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001510	HP:0001510	Growth delay	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0001510	HP:0001510	Growth delay	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001510	HP:0001510	Growth delay	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001510	HP:0001510	Growth delay	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0001510	HP:0001510	Growth delay	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0001510	HP:0001510	Growth delay	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0001510	HP:0001510	Growth delay	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0001510	HP:0001510	Growth delay	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0001510	HP:0001510	Growth delay	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0001510	HP:0001510	Growth delay	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0001510	HP:0001510	Growth delay	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001510	HP:0001510	Growth delay	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0001510	HP:0001510	Growth delay	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001510	HP:0001510	Growth delay	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0001510	HP:0001510	Growth delay	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0001510	HP:0001510	Growth delay	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0001510	HP:0001510	Growth delay	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0001510	HP:0001510	Growth delay	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0001510	HP:0001510	Growth delay	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0001510	HP:0001510	Growth delay	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0001510	HP:0001510	Growth delay	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0001510	HP:0001510	Growth delay	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0001510	HP:0001510	Growth delay	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0001510	HP:0001510	Growth delay	0	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development		1
HP:0001510	HP:0001510	Growth delay	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0001510	HP:0001510	Growth delay	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001510	HP:0001510	Growth delay	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:0001510	HP:0001510	Growth delay	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.	24
HP:0001510	HP:0001510	Growth delay	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001510	HP:0001510	Growth delay	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001510	HP:0001510	Growth delay	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0001510	HP:0001510	Growth delay	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0001510	HP:0001510	Growth delay	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0001510	HP:0001510	Growth delay	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0001510	HP:0001510	Growth delay	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0001510	HP:0001510	Growth delay	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0001510	HP:0001510	Growth delay	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0001510	HP:0001510	Growth delay	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0001510	HP:0001510	Growth delay	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:0001510	HP:0001510	Growth delay	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0001510	HP:0001510	Growth delay	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0001510	HP:0001510	Growth delay	0	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome		60
HP:0001510	HP:0001510	Growth delay	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0001510	HP:0001510	Growth delay	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0001510	HP:0001510	Growth delay	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0001510	HP:0001510	Growth delay	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0001510	HP:0001510	Growth delay	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0001510	HP:0001510	Growth delay	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis		54
HP:0001510	HP:0001510	Growth delay	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0001510	HP:0001510	Growth delay	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001510	HP:0001510	Growth delay	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001510	HP:0001510	Growth delay	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0001510	HP:0001510	Growth delay	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0001510	HP:0001510	Growth delay	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0001510	HP:0001510	Growth delay	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0001510	HP:0001510	Growth delay	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0001510	HP:0001510	Growth delay	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0001510	HP:0001510	Growth delay	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0001510	HP:0001510	Growth delay	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0001510	HP:0001510	Growth delay	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG		62
HP:0001510	HP:0001510	Growth delay	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0001510	HP:0001510	Growth delay	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001510	HP:0001510	Growth delay	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001510	HP:0001510	Growth delay	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0001510	HP:0001510	Growth delay	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0001510	HP:0001510	Growth delay	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001510	HP:0001510	Growth delay	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001510	HP:0001510	Growth delay	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001510	HP:0001510	Growth delay	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001510	HP:0001510	Growth delay	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0001510	HP:0001510	Growth delay	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0001510	HP:0001510	Growth delay	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0001510	HP:0001510	Growth delay	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001510	HP:0001510	Growth delay	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent	159
HP:0001510	HP:0001510	Growth delay	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0001510	HP:0001510	Growth delay	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		47
HP:0001510	HP:0001510	Growth delay	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0001510	HP:0001510	Growth delay	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0001510	HP:0001510	Growth delay	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001510	HP:0001510	Growth delay	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0001510	HP:0001510	Growth delay	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.	118
HP:0001510	HP:0001510	Growth delay	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0001510	HP:0001510	Growth delay	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0001510	HP:0001510	Growth delay	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0001510	HP:0001510	Growth delay	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	22
HP:0001510	HP:0001510	Growth delay	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0001510	HP:0001510	Growth delay	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0001510	HP:0001510	Growth delay	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001510	HP:0001510	Growth delay	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0001510	HP:0001510	Growth delay	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0001510	HP:0001510	Growth delay	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0001510	HP:0001510	Growth delay	0	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:0001510	HP:0001510	Growth delay	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0001510	HP:0001510	Growth delay	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0001510	HP:0001510	Growth delay	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0001510	HP:0001510	Growth delay	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0001510	HP:0001510	Growth delay	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0001510	HP:0001510	Growth delay	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0001510	HP:0001510	Growth delay	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	3
HP:0001510	HP:0001510	Growth delay	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0001510	HP:0001510	Growth delay	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0001510	HP:0001510	Growth delay	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0001510	HP:0001510	Growth delay	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss		3
HP:0001510	HP:0001510	Growth delay	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0001510	HP:0001510	Growth delay	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0001510	HP:0001510	Growth delay	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome		3
HP:0001510	HP:0001510	Growth delay	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0001510	HP:0001510	Growth delay	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8		41
HP:0001510	HP:0001510	Growth delay	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0001510	HP:0001510	Growth delay	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent	25
HP:0001510	HP:0001510	Growth delay	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0001510	HP:0001510	Growth delay	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0001510	HP:0001510	Growth delay	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001510	HP:0001510	Growth delay	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0001510	HP:0001510	Growth delay	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		3
HP:0001510	HP:0001510	Growth delay	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001510	HP:0001510	Growth delay	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001510	HP:0001510	Growth delay	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		72
HP:0001510	HP:0001510	Growth delay	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect		94
HP:0001510	HP:0001510	Growth delay	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0001510	HP:0001510	Growth delay	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0001510	HP:0001510	Growth delay	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0001510	HP:0001510	Growth delay	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0001510	HP:0001510	Growth delay	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001510	HP:0001510	Growth delay	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0001510	HP:0001510	Growth delay	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0001510	HP:0001510	Growth delay	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0001510	HP:0001510	Growth delay	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001510	HP:0001510	Growth delay	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities		9
HP:0001510	HP:0001510	Growth delay	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0001510	HP:0001510	Growth delay	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001510	HP:0001510	Growth delay	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001510	HP:0001510	Growth delay	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0001510	HP:0001510	Growth delay	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0001510	HP:0001510	Growth delay	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001510	HP:0001510	Growth delay	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001510	HP:0001510	Growth delay	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly		18
HP:0001510	HP:0001510	Growth delay	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33		18
HP:0001510	HP:0001510	Growth delay	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0001510	HP:0001510	Growth delay	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0001510	HP:0001510	Growth delay	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001510	HP:0001510	Growth delay	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0001510	HP:0001510	Growth delay	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0001510	HP:0001510	Growth delay	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.	108
HP:0001510	HP:0001510	Growth delay	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0001510	HP:0001510	Growth delay	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001510	HP:0001510	Growth delay	0	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5	.	11
HP:0001510	HP:0001510	Growth delay	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0001510	HP:0001510	Growth delay	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0001510	HP:0001510	Growth delay	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0001510	HP:0001510	Growth delay	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0001510	HP:0001510	Growth delay	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0001510	HP:0001510	Growth delay	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0001510	HP:0001510	Growth delay	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0001510	HP:0001510	Growth delay	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0001510	HP:0001510	Growth delay	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001510	HP:0001510	Growth delay	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1		65
HP:0001510	HP:0001510	Growth delay	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001510	HP:0001510	Growth delay	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0001510	HP:0001510	Growth delay	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome		304
HP:0001510	HP:0001510	Growth delay	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0001510	HP:0001510	Growth delay	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0001510	HP:0001510	Growth delay	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001510	HP:0001510	Growth delay	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001510	HP:0001510	Growth delay	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0001510	HP:0001510	Growth delay	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001510	HP:0001510	Growth delay	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001510	HP:0001510	Growth delay	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome		7
HP:0001510	HP:0001510	Growth delay	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0001510	HP:0001510	Growth delay	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001510	HP:0001510	Growth delay	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0001510	HP:0001510	Growth delay	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0001510	HP:0001510	Growth delay	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0001510	HP:0001510	Growth delay	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0001510	HP:0001510	Growth delay	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001510	HP:0001510	Growth delay	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0001510	HP:0001510	Growth delay	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0001510	HP:0001510	Growth delay	0	EBP