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

Parent Node:
All (HP:0000001)

..Starting node
..Mode of inheritance (HP:0000005)

Term ID:

Name:

Mode of inheritance

Synonym:

Inheritance

Definition:

The pattern in which a particular genetic trait or disorder is passed from one generation to the next.

Comments:

Reference:

HP:0000005

Genes and Diseases:

Child Nodes:

........

Autosomal dominant inheritance (HP:0000006)

................... HP:0001444 Autosomal dominant somatic cell mutation
................... HP:0001452 Autosomal dominant contiguous gene syndrome
................... HP:0001470 Sex-limited autosomal dominant
................... HP:0012274 Autosomal dominant inheritance with paternal imprinting
................... HP:0012275 Autosomal dominant inheritance with maternal imprinting
................... HP:0025352 Autosomal dominant germline de novo mutation

........

Autosomal recessive inheritance (HP:0000007)

................... HP:0031362 Sex-limited autosomal recessive inheritance

........

Heterogeneous (HP:0001425)

........

Multifactorial inheritance (HP:0001426)

................... HP:0010982 Polygenic inheritance
................... HP:0010983 Oligogenic inheritance
................... HP:0010984 Digenic inheritance

........

Mitochondrial inheritance (HP:0001427)

........

Somatic mutation (HP:0001428)

................... HP:0001442 Somatic mosaicism

........

Contiguous gene syndrome (HP:0001466)

................... HP:0001452 Autosomal dominant contiguous gene syndrome

........

Familial predisposition (HP:0001472)

........

Genetic anticipation (HP:0003743)

................... HP:0003744 Genetic anticipation with paternal anticipation bias

........

Sporadic (HP:0003745)

........

Gonosomal inheritance (HP:0010985)

................... HP:0001417 X-linked inheritance
................... HP:0001450 Y-linked inheritance

Sister Nodes:

Clinical course (HP:0031797)

Clinical modifier (HP:0012823)

Frequency (HP:0040279)

Phenotypic abnormality (HP:0000118)

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:0000005	HP:0000005	Mode of inheritance	0	CL E G H
HP:0000005	HP:0001426	Multifactorial inheritance	1	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to		120
HP:0000005	HP:0034345	Mendelian inheritance	1	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to		120
HP:0000005	HP:0034345	Mendelian inheritance	1	A4GALT CL E G H	53947	18149	OMIM:111400	BLOOD GROUP, P1PK SYSTEM		9
HP:0000005	HP:0034345	Mendelian inheritance	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0000005	HP:0034345	Mendelian inheritance	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0000005	HP:0034345	Mendelian inheritance	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0000005	HP:0034345	Mendelian inheritance	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0000005	HP:0034345	Mendelian inheritance	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000005	HP:0034345	Mendelian inheritance	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000005	HP:0034345	Mendelian inheritance	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0000005	HP:0034345	Mendelian inheritance	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure		143
HP:0000005	HP:0034345	Mendelian inheritance	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I		15
HP:0000005	HP:0034345	Mendelian inheritance	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B		130
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA4 CL E G H	24	34	OMIM:153800	Macular degeneration, age-related, 2		826
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19		826
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA4 CL E G H	24	34	OMIM:248200	Stargardt disease 1		826
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3		111
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3		111
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1		111
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB6 CL E G H	10058	47	OMIM:614497	Microphthalmia, isolated, with coloboma 7		20
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77		22
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome		119
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent		245
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1		245
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive		245
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12		254
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0000005	HP:0001426	Multifactorial inheritance	1	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4		76
HP:0000005	HP:0034345	Mendelian inheritance	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0000005	HP:0034345	Mendelian inheritance	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0000005	HP:0034345	Mendelian inheritance	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0000005	HP:0034345	Mendelian inheritance	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0000005	HP:0034345	Mendelian inheritance	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0000005	HP:0034335	Inheritance modifier	1	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0000005	HP:0034345	Mendelian inheritance	1	ACACA CL E G H	31	84	OMIM:613933	Acetyl-CoA carboxylase deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0000005	HP:0034345	Mendelian inheritance	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0000005	HP:0034345	Mendelian inheritance	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0000005	HP:0034345	Mendelian inheritance	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0000005	HP:0034345	Mendelian inheritance	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency		111
HP:0000005	HP:0034345	Mendelian inheritance	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000005	HP:0034345	Mendelian inheritance	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type		34
HP:0000005	HP:0034345	Mendelian inheritance	1	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria		91
HP:0000005	HP:0003745	Sporadic	1	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency	.
HP:0000005	HP:0034345	Mendelian inheritance	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6		11
HP:0000005	HP:0034345	Mendelian inheritance	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis		113
HP:0000005	HP:0034345	Mendelian inheritance	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000005	HP:0034345	Mendelian inheritance	1	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000005	HP:0034345	Mendelian inheritance	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0000005	HP:0034345	Mendelian inheritance	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0000005	HP:0034345	Mendelian inheritance	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0000005	HP:0034345	Mendelian inheritance	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0000005	HP:0034345	Mendelian inheritance	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:0000005	HP:0034345	Mendelian inheritance	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0000005	HP:0034345	Mendelian inheritance	1	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria		68
HP:0000005	HP:0034345	Mendelian inheritance	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTA2 CL E G H	59	130	OMIM:614042	Moyamoya disease 5		94
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5		208
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20		123
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTL9 CL E G H	284382	28494	OMIM:619258	SPERMATOGENIC FAILURE 53; SPGF53
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15		9
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0000005	HP:0034335	Inheritance modifier	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0000005	HP:0034345	Mendelian inheritance	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0000005	HP:0034345	Mendelian inheritance	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0000005	HP:0034345	Mendelian inheritance	1	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency		13
HP:0000005	HP:0001442	Somatic mosaicism	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:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0000005	HP:0003745	Sporadic	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0000005	HP:0034345	Mendelian inheritance	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAM10 CL E G H	102	188	OMIM:615537	Reticulate acropigmentation of kitamura		7
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAM9 CL E G H	8754	216	OMIM:612775	Cone-Rod dystrophy 9		41
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4		214
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTSL4 CL E G H	54507	19706	OMIM:225100	Ectopia lentis		84
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae		84
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1		116
HP:0000005	HP:0034345	Mendelian inheritance	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0000005	HP:0034345	Mendelian inheritance	1	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0000005	HP:0034345	Mendelian inheritance	1	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR		25
HP:0000005	HP:0034345	Mendelian inheritance	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0000005	HP:0034345	Mendelian inheritance	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0000005	HP:0034345	Mendelian inheritance	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8		2
HP:0000005	HP:0001426	Multifactorial inheritance	1	ADD1 CL E G H	118	243	OMIM:145500	Hypertension, essential	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4		530
HP:0000005	HP:0034345	Mendelian inheritance	1	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC		530
HP:0000005	HP:0001426	Multifactorial inheritance	1	ADH1B CL E G H	125	250	OMIM:103780	Alcohol dependence	.	2
HP:0000005	HP:0001426	Multifactorial inheritance	1	ADH1C CL E G H	126	251	OMIM:103780	Alcohol dependence	.	4
HP:0000005	HP:0034345	Mendelian inheritance	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0000005	HP:0003745	Sporadic	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0000005	HP:0001426	Multifactorial inheritance	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000005	HP:0034345	Mendelian inheritance	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0000005	HP:0034345	Mendelian inheritance	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000005	HP:0034345	Mendelian inheritance	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000005	HP:0001426	Multifactorial inheritance	1	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to	.	5
HP:0000005	HP:0034345	Mendelian inheritance	1	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to		5
HP:0000005	HP:0001426	Multifactorial inheritance	1	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY		5
HP:0000005	HP:0001426	Multifactorial inheritance	1	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0000005	HP:0034345	Mendelian inheritance	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0000005	HP:0034345	Mendelian inheritance	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000005	HP:0034345	Mendelian inheritance	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0000005	HP:0034345	Mendelian inheritance	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000005	HP:0034345	Mendelian inheritance	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0000005	HP:0034345	Mendelian inheritance	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0000005	HP:0034345	Mendelian inheritance	1	AFP CL E G H	174	317	OMIM:615969	ALPHA-FETOPROTEIN DEFICIENCY; AFPD		4
HP:0000005	HP:0034345	Mendelian inheritance	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0000005	HP:0034345	Mendelian inheritance	1	AGBL1 CL E G H	123624	26504	OMIM:615523	Corneal dystrophy, fuchs endothelial, 8		3
HP:0000005	HP:0034345	Mendelian inheritance	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0000005	HP:0034345	Mendelian inheritance	1	AGK CL E G H	55750	21869	OMIM:614691	Cataract, autosomal recessive congenital 5		82
HP:0000005	HP:0034345	Mendelian inheritance	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome		82
HP:0000005	HP:0034345	Mendelian inheritance	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III		216
HP:0000005	HP:0034345	Mendelian inheritance	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000005	HP:0034345	Mendelian inheritance	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0000005	HP:0034345	Mendelian inheritance	1	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3		117
HP:0000005	HP:0034345	Mendelian inheritance	1	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0000005	HP:0001426	Multifactorial inheritance	1	AGRP CL E G H	181	330	OMIM:601665	OBESITY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AGRP CL E G H	181	330	OMIM:601665	OBESITY		1
HP:0000005	HP:0001426	Multifactorial inheritance	1	AGT CL E G H	183	333	OMIM:145500	Hypertension, essential	.	48
HP:0000005	HP:0034345	Mendelian inheritance	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis		48
HP:0000005	HP:0034345	Mendelian inheritance	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0000005	HP:0001426	Multifactorial inheritance	1	AGTR1 CL E G H	185	336	OMIM:145500	Hypertension, essential	.	33
HP:0000005	HP:0034345	Mendelian inheritance	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis		33
HP:0000005	HP:0034345	Mendelian inheritance	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0000005	HP:0034345	Mendelian inheritance	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY		31
HP:0000005	HP:0034345	Mendelian inheritance	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0000005	HP:0034345	Mendelian inheritance	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0000005	HP:0034345	Mendelian inheritance	1	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85		2
HP:0000005	HP:0034345	Mendelian inheritance	1	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1		5
HP:0000005	HP:0034345	Mendelian inheritance	1	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0000005	HP:0034345	Mendelian inheritance	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0000005	HP:0034345	Mendelian inheritance	1	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome		60
HP:0000005	HP:0034345	Mendelian inheritance	1	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5		60
HP:0000005	HP:0034345	Mendelian inheritance	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0000005	HP:0034345	Mendelian inheritance	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0000005	HP:0034345	Mendelian inheritance	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0000005	HP:0034335	Inheritance modifier	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0000005	HP:0034345	Mendelian inheritance	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0000005	HP:0034345	Mendelian inheritance	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4		114
HP:0000005	HP:0034345	Mendelian inheritance	1	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa		114
HP:0000005	HP:0034345	Mendelian inheritance	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000005	HP:0034345	Mendelian inheritance	1	AK1 CL E G H	203	361	OMIM:612631	Adenylate kinase deficiency, hemolytic anemia due to		9
HP:0000005	HP:0034345	Mendelian inheritance	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0000005	HP:0034345	Mendelian inheritance	1	AK7 CL E G H	122481	20091	OMIM:617965	Spermatogenic failure 27		5
HP:0000005	HP:0034345	Mendelian inheritance	1	AKAP9 CL E G H	10142	379	OMIM:611820	Long QT syndrome 11		289
HP:0000005	HP:0034345	Mendelian inheritance	1	AKR1C2 CL E G H	1646	385	OMIM:614279	46,xy sex reversal 8		7
HP:0000005	HP:0034345	Mendelian inheritance	1	AKR1C4 CL E G H	1109	387	OMIM:614279	46,xy sex reversal 8		3
HP:0000005	HP:0034345	Mendelian inheritance	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0000005	HP:0034335	Inheritance modifier	1	AKT1 CL E G H	207	391	OMIM:114480	Breast cancer		54
HP:0000005	HP:0034345	Mendelian inheritance	1	AKT1 CL E G H	207	391	OMIM:114480	Breast cancer		54
HP:0000005	HP:0034335	Inheritance modifier	1	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer		54
HP:0000005	HP:0034345	Mendelian inheritance	1	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer		54
HP:0000005	HP:0034345	Mendelian inheritance	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0000005	HP:0034335	Inheritance modifier	1	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer		54
HP:0000005	HP:0034345	Mendelian inheritance	1	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer		54
HP:0000005	HP:0034335	Inheritance modifier	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0000005	HP:0003745	Sporadic	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0000005	HP:0034345	Mendelian inheritance	1	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent		12
HP:0000005	HP:0034345	Mendelian inheritance	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy		12
HP:0000005	HP:0034345	Mendelian inheritance	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic		62
HP:0000005	HP:0034345	Mendelian inheritance	1	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked		72
HP:0000005	HP:0034345	Mendelian inheritance	1	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0000005	HP:0034345	Mendelian inheritance	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0000005	HP:0003745	Sporadic	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH2 CL E G H	217	404	OMIM:610251	Alcohol sensitivity, acute		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II		74
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency		35
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent		227
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0000005	HP:0034345	Mendelian inheritance	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik		58
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip		41
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3		46
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0000005	HP:0034345	Mendelian inheritance	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000005	HP:0034345	Mendelian inheritance	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000005	HP:0034345	Mendelian inheritance	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0000005	HP:0034345	Mendelian inheritance	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0000005	HP:0001426	Multifactorial inheritance	1	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to	.	4
HP:0000005	HP:0034345	Mendelian inheritance	1	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to		4
HP:0000005	HP:0001426	Multifactorial inheritance	1	ALOX5AP CL E G H	241	436	OMIM:601367	STROKE, ISCHEMIC		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0000005	HP:0034345	Mendelian inheritance	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0000005	HP:0034345	Mendelian inheritance	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0000005	HP:0034345	Mendelian inheritance	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0000005	HP:0034345	Mendelian inheritance	1	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult		126
HP:0000005	HP:0034345	Mendelian inheritance	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood		126
HP:0000005	HP:0034345	Mendelian inheritance	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0000005	HP:0034345	Mendelian inheritance	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0000005	HP:0034345	Mendelian inheritance	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0000005	HP:0034345	Mendelian inheritance	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0000005	HP:0034345	Mendelian inheritance	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0000005	HP:0003745	Sporadic	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000005	HP:0034345	Mendelian inheritance	1	ALX4 CL E G H	60529	450	OMIM:615529	Craniosynostosis 5, susceptibility to		132
HP:0000005	HP:0034345	Mendelian inheritance	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000005	HP:0034345	Mendelian inheritance	1	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0000005	HP:0034345	Mendelian inheritance	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0000005	HP:0034345	Mendelian inheritance	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0000005	HP:0034345	Mendelian inheritance	1	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0000005	HP:0034345	Mendelian inheritance	1	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE		17
HP:0000005	HP:0034345	Mendelian inheritance	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000005	HP:0034345	Mendelian inheritance	1	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0000005	HP:0034345	Mendelian inheritance	1	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0000005	HP:0034345	Mendelian inheritance	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000005	HP:0034345	Mendelian inheritance	1	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0000005	HP:0034345	Mendelian inheritance	1	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD		62
HP:0000005	HP:0034345	Mendelian inheritance	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9		21
HP:0000005	HP:0034345	Mendelian inheritance	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0000005	HP:0034345	Mendelian inheritance	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0000005	HP:0034345	Mendelian inheritance	1	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000005	HP:0034345	Mendelian inheritance	1	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9		32
HP:0000005	HP:0034345	Mendelian inheritance	1	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0000005	HP:0034345	Mendelian inheritance	1	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0000005	HP:0034345	Mendelian inheritance	1	ANGPTL4 CL E G H	51129	16039	OMIM:615881	PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0000005	HP:0034345	Mendelian inheritance	1	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related		539
HP:0000005	HP:0034345	Mendelian inheritance	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37		176
HP:0000005	HP:0034345	Mendelian inheritance	1	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2		164
HP:0000005	HP:0034345	Mendelian inheritance	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0000005	HP:0034345	Mendelian inheritance	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000005	HP:0034345	Mendelian inheritance	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0000005	HP:0034345	Mendelian inheritance	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0000005	HP:0034345	Mendelian inheritance	1	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0000005	HP:0034345	Mendelian inheritance	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000005	HP:0034345	Mendelian inheritance	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10		64
HP:0000005	HP:0034335	Inheritance modifier	1	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0000005	HP:0034345	Mendelian inheritance	1	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0000005	HP:0034345	Mendelian inheritance	1	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia		304
HP:0000005	HP:0034345	Mendelian inheritance	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0000005	HP:0034345	Mendelian inheritance	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0000005	HP:0034345	Mendelian inheritance	1	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0000005	HP:0034345	Mendelian inheritance	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ANTXR1 CL E G H	84168	21014	OMIM:602089	Hemangioma, capillary infantile		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0000005	HP:0034345	Mendelian inheritance	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0000005	HP:0034345	Mendelian inheritance	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000005	HP:0034345	Mendelian inheritance	1	ANXA5 CL E G H	308	543	OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0000005	HP:0034345	Mendelian inheritance	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000005	HP:0034345	Mendelian inheritance	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000005	HP:0034345	Mendelian inheritance	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000005	HP:0034345	Mendelian inheritance	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0000005	HP:0034345	Mendelian inheritance	1	AP1S3 CL E G H	130340	18971	OMIM:616106	Psoriasis 15, pustular, susceptibility to		2
HP:0000005	HP:0034345	Mendelian inheritance	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000005	HP:0034345	Mendelian inheritance	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0000005	HP:0034345	Mendelian inheritance	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000005	HP:0034345	Mendelian inheritance	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0000005	HP:0034345	Mendelian inheritance	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0000005	HP:0034345	Mendelian inheritance	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0000005	HP:0034345	Mendelian inheritance	1	AP4E1 CL E G H	23431	573	OMIM:184450	Stuttering, familial persistent, 1		48
HP:0000005	HP:0034345	Mendelian inheritance	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0000005	HP:0034345	Mendelian inheritance	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0000005	HP:0034345	Mendelian inheritance	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0000005	HP:0034345	Mendelian inheritance	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0000005	HP:0034335	Inheritance modifier	1	APC CL E G H	324	583	OMIM:114500	Colorectal cancer		3179
HP:0000005	HP:0034345	Mendelian inheritance	1	APC CL E G H	324	583	OMIM:114500	Colorectal cancer		3179
HP:0000005	HP:0034345	Mendelian inheritance	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0000005	HP:0034345	Mendelian inheritance	1	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0000005	HP:0034335	Inheritance modifier	1	APC CL E G H	324	583	OMIM:613659	Gastric cancer, somatic		3179
HP:0000005	HP:0034335	Inheritance modifier	1	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma		3179
HP:0000005	HP:0034345	Mendelian inheritance	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0000005	HP:0034345	Mendelian inheritance	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral		40
HP:0000005	HP:0034345	Mendelian inheritance	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0000005	HP:0034345	Mendelian inheritance	1	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0000005	HP:0034345	Mendelian inheritance	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0000005	HP:0034345	Mendelian inheritance	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0000005	HP:0034345	Mendelian inheritance	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0000005	HP:0034345	Mendelian inheritance	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0000005	HP:0034345	Mendelian inheritance	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0000005	HP:0034345	Mendelian inheritance	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0000005	HP:0034345	Mendelian inheritance	1	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2		39
HP:0000005	HP:0034345	Mendelian inheritance	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0000005	HP:0034345	Mendelian inheritance	1	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0000005	HP:0034345	Mendelian inheritance	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0000005	HP:0034345	Mendelian inheritance	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0000005	HP:0001426	Multifactorial inheritance	1	APOL1 CL E G H	8542	618	OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to		3
HP:0000005	HP:0034345	Mendelian inheritance	1	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA
HP:0000005	HP:0034345	Mendelian inheritance	1	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA
HP:0000005	HP:0034345	Mendelian inheritance	1	APP CL E G H	351	620	OMIM:104300	Alzheimer disease		74
HP:0000005	HP:0034345	Mendelian inheritance	1	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related		74
HP:0000005	HP:0034345	Mendelian inheritance	1	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14		2
HP:0000005	HP:0034345	Mendelian inheritance	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0000005	HP:0034345	Mendelian inheritance	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0000005	HP:0034345	Mendelian inheritance	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0000005	HP:0034345	Mendelian inheritance	1	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0000005	HP:0034345	Mendelian inheritance	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0000005	HP:0034345	Mendelian inheritance	1	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0000005	HP:0034335	Inheritance modifier	1	AR CL E G H	367	644	OMIM:176807	Prostate cancer		125
HP:0000005	HP:0034345	Mendelian inheritance	1	AR CL E G H	367	644	OMIM:176807	Prostate cancer		125
HP:0000005	HP:0034345	Mendelian inheritance	1	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000005	HP:0034345	Mendelian inheritance	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0000005	HP:0034345	Mendelian inheritance	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0000005	HP:0034345	Mendelian inheritance	1	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0000005	HP:0034345	Mendelian inheritance	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0000005	HP:0034345	Mendelian inheritance	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0000005	HP:0034335	Inheritance modifier	1	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78		6
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8		45
HP:0000005	HP:0034345	Mendelian inheritance	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000005	HP:0034345	Mendelian inheritance	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000005	HP:0034345	Mendelian inheritance	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa		29
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL6 CL E G H	84100	13210	OMIM:613575	RETINITIS PIGMENTOSA 55; RP55		29
HP:0000005	HP:0034345	Mendelian inheritance	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0000005	HP:0034335	Inheritance modifier	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0000005	HP:0034345	Mendelian inheritance	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0000005	HP:0034345	Mendelian inheritance	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000005	HP:0034345	Mendelian inheritance	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0000005	HP:0034345	Mendelian inheritance	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000005	HP:0034345	Mendelian inheritance	1	ARR3 CL E G H	407	710	OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0000005	HP:0034345	Mendelian inheritance	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0000005	HP:0034345	Mendelian inheritance	1	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000005	HP:0034345	Mendelian inheritance	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000005	HP:0034345	Mendelian inheritance	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0000005	HP:0034345	Mendelian inheritance	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0000005	HP:0034345	Mendelian inheritance	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0000005	HP:0034345	Mendelian inheritance	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0000005	HP:0034345	Mendelian inheritance	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome		166
HP:0000005	HP:0034345	Mendelian inheritance	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0000005	HP:0034345	Mendelian inheritance	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0000005	HP:0034345	Mendelian inheritance	1	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F		54
HP:0000005	HP:0034335	Inheritance modifier	1	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria		81
HP:0000005	HP:0034345	Mendelian inheritance	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0000005	HP:0034345	Mendelian inheritance	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0000005	HP:0034345	Mendelian inheritance	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive		512
HP:0000005	HP:0034345	Mendelian inheritance	1	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ASPRV1 CL E G H	151516	26321	OMIM:146750	Ichthyosis, lamellar, autosomal dominant		1
HP:0000005	HP:0034335	Inheritance modifier	1	ASPSCR1 CL E G H	79058	13825	OMIM:606243	Alveolar soft part sarcoma
HP:0000005	HP:0034345	Mendelian inheritance	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0000005	HP:0034345	Mendelian inheritance	1	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0000005	HP:0034345	Mendelian inheritance	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0000005	HP:0034335	Inheritance modifier	1	ASXL1 CL E G H	171023	18318	OMIM:614286	Myelodysplastic syndrome		145
HP:0000005	HP:0034345	Mendelian inheritance	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000005	HP:0034345	Mendelian inheritance	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0000005	HP:0034345	Mendelian inheritance	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0000005	HP:0034345	Mendelian inheritance	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000005	HP:0034345	Mendelian inheritance	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID		71
HP:0000005	HP:0034335	Inheritance modifier	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0000005	HP:0034345	Mendelian inheritance	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0000005	HP:0034345	Mendelian inheritance	1	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0000005	HP:0034335	Inheritance modifier	1	ATM CL E G H	472	795	OMIM:114480	Breast cancer		3267
HP:0000005	HP:0034345	Mendelian inheritance	1	ATM CL E G H	472	795	OMIM:114480	Breast cancer		3267
HP:0000005	HP:0034335	Inheritance modifier	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000005	HP:0034345	Mendelian inheritance	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000005	HP:0034335	Inheritance modifier	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0000005	HP:0034345	Mendelian inheritance	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0000005	HP:0034345	Mendelian inheritance	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000005	HP:0034335	Inheritance modifier	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0000005	HP:0034335	Inheritance modifier	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2		150
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0000005	HP:0034335	Inheritance modifier	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP2C1 CL E G H	27032	13211	OMIM:169600	Benign chronic pemphigus		56
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0000005	HP:0034335	Inheritance modifier	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness		67
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3		192
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4		24
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1		144
HP:0000005	HP:0034345	Mendelian inheritance	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0000005	HP:0034345	Mendelian inheritance	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0000005	HP:0034345	Mendelian inheritance	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0000005	HP:0034345	Mendelian inheritance	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000005	HP:0034345	Mendelian inheritance	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000005	HP:0034345	Mendelian inheritance	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000005	HP:0034335	Inheritance modifier	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0000005	HP:0034335	Inheritance modifier	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0000005	HP:0003745	Sporadic	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0000005	HP:0034335	Inheritance modifier	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0000005	HP:0034335	Inheritance modifier	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0000005	HP:0034335	Inheritance modifier	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0000005	HP:0003745	Sporadic	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0000005	HP:0034335	Inheritance modifier	1	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034345	Mendelian inheritance	1	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa		12
HP:0000005	HP:0034345	Mendelian inheritance	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000005	HP:0034345	Mendelian inheritance	1	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000005	HP:0034345	Mendelian inheritance	1	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type		22
HP:0000005	HP:0034345	Mendelian inheritance	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0000005	HP:0034345	Mendelian inheritance	1	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis		67
HP:0000005	HP:0034335	Inheritance modifier	1	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma		3
HP:0000005	HP:0034335	Inheritance modifier	1	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer		435
HP:0000005	HP:0034345	Mendelian inheritance	1	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer		435
HP:0000005	HP:0034345	Mendelian inheritance	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0000005	HP:0034345	Mendelian inheritance	1	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000005	HP:0034345	Mendelian inheritance	1	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral		8
HP:0000005	HP:0034345	Mendelian inheritance	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0000005	HP:0034345	Mendelian inheritance	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0000005	HP:0034345	Mendelian inheritance	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0000005	HP:0034345	Mendelian inheritance	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2		38
HP:0000005	HP:0034345	Mendelian inheritance	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000005	HP:0034345	Mendelian inheritance	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0000005	HP:0034345	Mendelian inheritance	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0000005	HP:0034345	Mendelian inheritance	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000005	HP:0034345	Mendelian inheritance	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0000005	HP:0034345	Mendelian inheritance	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27		28
HP:0000005	HP:0034345	Mendelian inheritance	1	B9D1 CL E G H	27077	24123	OMIM:614209	Meckel syndrome, type 9		28
HP:0000005	HP:0034345	Mendelian inheritance	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0000005	HP:0034345	Mendelian inheritance	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0000005	HP:0034345	Mendelian inheritance	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0000005	HP:0034345	Mendelian inheritance	1	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh		204
HP:0000005	HP:0034345	Mendelian inheritance	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0000005	HP:0034345	Mendelian inheritance	1	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0000005	HP:0034345	Mendelian inheritance	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0000005	HP:0034345	Mendelian inheritance	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000005	HP:0034345	Mendelian inheritance	1	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2		184
HP:0000005	HP:0034345	Mendelian inheritance	1	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0000005	HP:0034335	Inheritance modifier	1	BARD1 CL E G H	580	952	OMIM:114480	Breast cancer		790
HP:0000005	HP:0034345	Mendelian inheritance	1	BARD1 CL E G H	580	952	OMIM:114480	Breast cancer		790
HP:0000005	HP:0034335	Inheritance modifier	1	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer		4
HP:0000005	HP:0034345	Mendelian inheritance	1	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer		4
HP:0000005	HP:0001426	Multifactorial inheritance	1	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0000005	HP:0034335	Inheritance modifier	1	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18		1
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10		118
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12		71
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74		97
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4		87
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0000005	HP:0034345	Mendelian inheritance	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0000005	HP:0034345	Mendelian inheritance	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination		8
HP:0000005	HP:0034345	Mendelian inheritance	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0000005	HP:0034345	Mendelian inheritance	1	BCHE CL E G H	590	983	OMIM:617936	BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED		67
HP:0000005	HP:0034345	Mendelian inheritance	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease		120
HP:0000005	HP:0034345	Mendelian inheritance	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease		162
HP:0000005	HP:0034345	Mendelian inheritance	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0000005	HP:0034335	Inheritance modifier	1	BCL10 CL E G H	8915	989	OMIM:156240	Mesothelioma, malignant		18
HP:0000005	HP:0034335	Inheritance modifier	1	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic		18
HP:0000005	HP:0003745	Sporadic	1	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0000005	HP:0034345	Mendelian inheritance	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0000005	HP:0034345	Mendelian inheritance	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0000005	HP:0034345	Mendelian inheritance	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0000005	HP:0034345	Mendelian inheritance	1	BCO1 CL E G H	53630	13815	OMIM:115300	Carotenemia, familial		2
HP:0000005	HP:0034345	Mendelian inheritance	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000005	HP:0034345	Mendelian inheritance	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000005	HP:0034345	Mendelian inheritance	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0000005	HP:0001426	Multifactorial inheritance	1	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0000005	HP:0034335	Inheritance modifier	1	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0000005	HP:0034335	Inheritance modifier	1	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0000005	HP:0034345	Mendelian inheritance	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome		72
HP:0000005	HP:0034345	Mendelian inheritance	1	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0000005	HP:0034345	Mendelian inheritance	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0000005	HP:0034345	Mendelian inheritance	1	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112		2
HP:0000005	HP:0034345	Mendelian inheritance	1	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31		1
HP:0000005	HP:0034345	Mendelian inheritance	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0000005	HP:0034345	Mendelian inheritance	1	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2		182
HP:0000005	HP:0034345	Mendelian inheritance	1	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50		182
HP:0000005	HP:0034345	Mendelian inheritance	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0000005	HP:0034345	Mendelian inheritance	1	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types		15
HP:0000005	HP:0034345	Mendelian inheritance	1	BFSP2 CL E G H	8419	1041	OMIM:611597	Cataract, autosomal dominant, multiple types 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0000005	HP:0034345	Mendelian inheritance	1	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex		4
HP:0000005	HP:0034345	Mendelian inheritance	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0000005	HP:0034345	Mendelian inheritance	1	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to		5
HP:0000005	HP:0034345	Mendelian inheritance	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0000005	HP:0034345	Mendelian inheritance	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant		46
HP:0000005	HP:0034345	Mendelian inheritance	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000005	HP:0034345	Mendelian inheritance	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0000005	HP:0034345	Mendelian inheritance	1	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11		75
HP:0000005	HP:0034345	Mendelian inheritance	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0000005	HP:0034345	Mendelian inheritance	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0000005	HP:0034345	Mendelian inheritance	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0000005	HP:0034345	Mendelian inheritance	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000005	HP:0034345	Mendelian inheritance	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0000005	HP:0034345	Mendelian inheritance	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0000005	HP:0034345	Mendelian inheritance	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0000005	HP:0034345	Mendelian inheritance	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0000005	HP:0034345	Mendelian inheritance	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1		13
HP:0000005	HP:0034345	Mendelian inheritance	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0000005	HP:0034345	Mendelian inheritance	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000005	HP:0001426	Multifactorial inheritance	1	BMP4 CL E G H	652	1071	OMIM:600625	OROFACIAL CLEFT 11; OFC11		38
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0000005	HP:0034335	Inheritance modifier	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0000005	HP:0034345	Mendelian inheritance	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0000005	HP:0034345	Mendelian inheritance	1	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0000005	HP:0034345	Mendelian inheritance	1	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0000005	HP:0034345	Mendelian inheritance	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000005	HP:0034345	Mendelian inheritance	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0000005	HP:0034345	Mendelian inheritance	1	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8		2
HP:0000005	HP:0034345	Mendelian inheritance	1	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type
HP:0000005	HP:0034345	Mendelian inheritance	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0000005	HP:0034345	Mendelian inheritance	1	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000005	HP:0034335	Inheritance modifier	1	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer		276
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer		276
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000005	HP:0034335	Inheritance modifier	1	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to		276
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to		276
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant		276
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0000005	HP:0034345	Mendelian inheritance	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0000005	HP:0034335	Inheritance modifier	1	BRCA1 CL E G H	672	1100	OMIM:114480	Breast cancer		5769
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA1 CL E G H	672	1100	OMIM:114480	Breast cancer		5769
HP:0000005	HP:0001426	Multifactorial inheritance	1	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1	.	5769
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0000005	HP:0034335	Inheritance modifier	1	BRCA2 CL E G H	675	1101	OMIM:114480	Breast cancer		7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA2 CL E G H	675	1101	OMIM:114480	Breast cancer		7642
HP:0000005	HP:0001426	Multifactorial inheritance	1	BRCA2 CL E G H	675	1101	OMIM:612555	Breast-Ovarian cancer, familial, susceptibility to, 2	.	7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA2 CL E G H	675	1101	OMIM:612555	Breast-Ovarian cancer, familial, susceptibility to, 2		7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3		7642
HP:0000005	HP:0034335	Inheritance modifier	1	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA		7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA		7642
HP:0000005	HP:0034335	Inheritance modifier	1	BRCA2 CL E G H	675	1101	OMIM:176807	Prostate cancer		7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA2 CL E G H	675	1101	OMIM:176807	Prostate cancer		7642
HP:0000005	HP:0034335	Inheritance modifier	1	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1		7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1		7642
HP:0000005	HP:0034345	Mendelian inheritance	1	BRDT CL E G H	676	1105	OMIM:617644	Spermatogenic failure 21		1
HP:0000005	HP:0034345	Mendelian inheritance	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0000005	HP:0034335	Inheritance modifier	1	BRIP1 CL E G H	83990	20473	OMIM:114480	Breast cancer		1086
HP:0000005	HP:0034345	Mendelian inheritance	1	BRIP1 CL E G H	83990	20473	OMIM:114480	Breast cancer		1086
HP:0000005	HP:0034345	Mendelian inheritance	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0000005	HP:0034345	Mendelian inheritance	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis		10
HP:0000005	HP:0034345	Mendelian inheritance	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000005	HP:0034345	Mendelian inheritance	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy		105
HP:0000005	HP:0034345	Mendelian inheritance	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0000005	HP:0034345	Mendelian inheritance	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0000005	HP:0034345	Mendelian inheritance	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0000005	HP:0034345	Mendelian inheritance	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0000005	HP:0034345	Mendelian inheritance	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0000005	HP:0034345	Mendelian inheritance	1	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0000005	HP:0034345	Mendelian inheritance	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0000005	HP:0034345	Mendelian inheritance	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000005	HP:0034345	Mendelian inheritance	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0000005	HP:0034335	Inheritance modifier	1	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer		5
HP:0000005	HP:0034335	Inheritance modifier	1	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer		76
HP:0000005	HP:0034345	Mendelian inheritance	1	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer		76
HP:0000005	HP:0034345	Mendelian inheritance	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0000005	HP:0034345	Mendelian inheritance	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0000005	HP:0034345	Mendelian inheritance	1	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0000005	HP:0034345	Mendelian inheritance	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0000005	HP:0034345	Mendelian inheritance	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0000005	HP:0034345	Mendelian inheritance	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000005	HP:0034345	Mendelian inheritance	1	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0000005	HP:0034345	Mendelian inheritance	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0000005	HP:0034345	Mendelian inheritance	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0000005	HP:0034345	Mendelian inheritance	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0000005	HP:0034335	Inheritance modifier	1	C1GALT1C1 CL E G H	29071	24338	OMIM:300622	Tn polyagglutination syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency		1
HP:0000005	HP:0034345	Mendelian inheritance	1	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency		2
HP:0000005	HP:0034345	Mendelian inheritance	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000005	HP:0034345	Mendelian inheritance	1	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency		3
HP:0000005	HP:0034345	Mendelian inheritance	1	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration		20
HP:0000005	HP:0034345	Mendelian inheritance	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0000005	HP:0034345	Mendelian inheritance	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0000005	HP:0034345	Mendelian inheritance	1	C2 CL E G H	717	1248	OMIM:217000	Complement component 2 deficiency		23
HP:0000005	HP:0034345	Mendelian inheritance	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0000005	HP:0034345	Mendelian inheritance	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0000005	HP:0034345	Mendelian inheritance	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0000005	HP:0034345	Mendelian inheritance	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0000005	HP:0034345	Mendelian inheritance	1	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency		1
HP:0000005	HP:0034345	Mendelian inheritance	1	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0000005	HP:0034345	Mendelian inheritance	1	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0000005	HP:0034345	Mendelian inheritance	1	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0000005	HP:0034345	Mendelian inheritance	1	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I		9
HP:0000005	HP:0034345	Mendelian inheritance	1	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II		7
HP:0000005	HP:0034345	Mendelian inheritance	1	C9 CL E G H	735	1358	OMIM:615591	MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15		10
HP:0000005	HP:0034345	Mendelian inheritance	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0000005	HP:0034345	Mendelian inheritance	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0000005	HP:0034345	Mendelian inheritance	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3		8
HP:0000005	HP:0034345	Mendelian inheritance	1	CABP2 CL E G H	51475	1385	OMIM:614899	Deafness, autosomal recessive 93		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive		94
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42		449
HP:0000005	HP:0034335	Inheritance modifier	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2		449
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2		449
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0000005	HP:0034335	Inheritance modifier	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6		449
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6		449
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3		572
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome		572
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness		51
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A		58
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0000005	HP:0034335	Inheritance modifier	1	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5		247
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1		247
HP:0000005	HP:0003745	Sporadic	1	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay		48
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4		129
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNB2 CL E G H	783	1402	OMIM:611876	BRUGADA SYNDROME 4; BRGDA4		206
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0000005	HP:0034335	Inheritance modifier	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0000005	HP:0034345	Mendelian inheritance	1	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0000005	HP:0034345	Mendelian inheritance	1	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0000005	HP:0034345	Mendelian inheritance	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0000005	HP:0034345	Mendelian inheritance	1	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0000005	HP:0034335	Inheritance modifier	1	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000005	HP:0034345	Mendelian inheritance	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000005	HP:0034345	Mendelian inheritance	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0000005	HP:0034345	Mendelian inheritance	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0000005	HP:0034345	Mendelian inheritance	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000005	HP:0034345	Mendelian inheritance	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0000005	HP:0034345	Mendelian inheritance	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0000005	HP:0034345	Mendelian inheritance	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis		45
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0000005	HP:0034345	Mendelian inheritance	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000005	HP:0034345	Mendelian inheritance	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0000005	HP:0001426	Multifactorial inheritance	1	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0000005	HP:0034345	Mendelian inheritance	1	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0000005	HP:0034345	Mendelian inheritance	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000005	HP:0034345	Mendelian inheritance	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0000005	HP:0034335	Inheritance modifier	1	CASP10 CL E G H	843	1500	OMIM:613659	Gastric cancer, somatic		87
HP:0000005	HP:0034345	Mendelian inheritance	1	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0000005	HP:0034335	Inheritance modifier	1	CASP8 CL E G H	841	1509	OMIM:114480	Breast cancer		37
HP:0000005	HP:0034345	Mendelian inheritance	1	CASP8 CL E G H	841	1509	OMIM:114480	Breast cancer		37
HP:0000005	HP:0034345	Mendelian inheritance	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0000005	HP:0034335	Inheritance modifier	1	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma		37
HP:0000005	HP:0034335	Inheritance modifier	1	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to		37
HP:0000005	HP:0034345	Mendelian inheritance	1	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to		37
HP:0000005	HP:0034345	Mendelian inheritance	1	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0000005	HP:0034345	Mendelian inheritance	1	CASQ2 CL E G H	845	1513	OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2		129
HP:0000005	HP:0034345	Mendelian inheritance	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0000005	HP:0034345	Mendelian inheritance	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0000005	HP:0034345	Mendelian inheritance	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0000005	HP:0034345	Mendelian inheritance	1	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CAT CL E G H	847	1516	OMIM:614097	Acatalasemia		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0000005	HP:0034345	Mendelian inheritance	1	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7		45
HP:0000005	HP:0034345	Mendelian inheritance	1	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility		12
HP:0000005	HP:0034345	Mendelian inheritance	1	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7		12
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000005	HP:0034335	Inheritance modifier	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		148
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0000005	HP:0034345	Mendelian inheritance	1	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0000005	HP:0034345	Mendelian inheritance	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0000005	HP:0034335	Inheritance modifier	1	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia		317
HP:0000005	HP:0034345	Mendelian inheritance	1	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia		317
HP:0000005	HP:0034345	Mendelian inheritance	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0000005	HP:0034345	Mendelian inheritance	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0000005	HP:0034345	Mendelian inheritance	1	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0000005	HP:0034345	Mendelian inheritance	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0000005	HP:0034345	Mendelian inheritance	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0000005	HP:0034345	Mendelian inheritance	1	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93		247
HP:0000005	HP:0034345	Mendelian inheritance	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17		36
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44		35
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1		54
HP:0000005	HP:0034345	Mendelian inheritance	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0000005	HP:0001426	Multifactorial inheritance	1	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to	.	2
HP:0000005	HP:0034345	Mendelian inheritance	1	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CCM2 CL E G H	83605	21708	OMIM:603284	Cerebral cavernous malformations-2		37
HP:0000005	HP:0034345	Mendelian inheritance	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0000005	HP:0034335	Inheritance modifier	1	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034335	Inheritance modifier	1	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000005	HP:0034345	Mendelian inheritance	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29		23
HP:0000005	HP:0034345	Mendelian inheritance	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0000005	HP:0034345	Mendelian inheritance	1	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0000005	HP:0034345	Mendelian inheritance	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0000005	HP:0034345	Mendelian inheritance	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0000005	HP:0034345	Mendelian inheritance	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0000005	HP:0034345	Mendelian inheritance	1	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency		53
HP:0000005	HP:0034345	Mendelian inheritance	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0000005	HP:0034345	Mendelian inheritance	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0000005	HP:0034345	Mendelian inheritance	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0000005	HP:0034345	Mendelian inheritance	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3		27
HP:0000005	HP:0034345	Mendelian inheritance	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0000005	HP:0034345	Mendelian inheritance	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0000005	HP:0034345	Mendelian inheritance	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0000005	HP:0034345	Mendelian inheritance	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0000005	HP:0034345	Mendelian inheritance	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1		169
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0000005	HP:0034335	Inheritance modifier	1	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0000005	HP:0034345	Mendelian inheritance	1	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0000005	HP:0034345	Mendelian inheritance	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1		1003
HP:0000005	HP:0034335	Inheritance modifier	1	CDH1 CL E G H	999	1748	OMIM:114480	Breast cancer		1003
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH1 CL E G H	999	1748	OMIM:114480	Breast cancer		1003
HP:0000005	HP:0034335	Inheritance modifier	1	CDH1 CL E G H	999	1748	OMIM:608089	Endometrial carcinoma, somatic		1003
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH1 CL E G H	999	1748	OMIM:608089	Endometrial carcinoma, somatic		1003
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse		1003
HP:0000005	HP:0034335	Inheritance modifier	1	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer		1003
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer		1003
HP:0000005	HP:0034335	Inheritance modifier	1	CDH1 CL E G H	999	1748	OMIM:176807	Prostate cancer		1003
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH1 CL E G H	999	1748	OMIM:176807	Prostate cancer		1003
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH15 CL E G H	1013	1754	OMIM:612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3		53
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12		636
HP:0000005	HP:0034335	Inheritance modifier	1	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types		636
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types		636
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID		636
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0000005	HP:0034345	Mendelian inheritance	1	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy		87
HP:0000005	HP:0034345	Mendelian inheritance	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0000005	HP:0034345	Mendelian inheritance	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3		145
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000005	HP:0034345	Mendelian inheritance	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0000005	HP:0034345	Mendelian inheritance	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0000005	HP:0034345	Mendelian inheritance	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000005	HP:0034345	Mendelian inheritance	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000005	HP:0034345	Mendelian inheritance	1	CDKN2A CL E G H	1029	1787	OMIM:155601	Melanoma, cutaneous malignant, susceptibility to, 2		289
HP:0000005	HP:0034345	Mendelian inheritance	1	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome		289
HP:0000005	HP:0034345	Mendelian inheritance	1	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome		289
HP:0000005	HP:0034345	Mendelian inheritance	1	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0000005	HP:0003745	Sporadic	1	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.	200
HP:0000005	HP:0034345	Mendelian inheritance	1	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0000005	HP:0034345	Mendelian inheritance	1	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	CEACAM16 CL E G H	388551	31948	OMIM:614614	Deafness, autosomal dominant 4B		30
HP:0000005	HP:0034345	Mendelian inheritance	1	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113		30
HP:0000005	HP:0034335	Inheritance modifier	1	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0000005	HP:0034345	Mendelian inheritance	1	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0000005	HP:0034345	Mendelian inheritance	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction		25
HP:0000005	HP:0034345	Mendelian inheritance	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000005	HP:0034345	Mendelian inheritance	1	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0000005	HP:0034345	Mendelian inheritance	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0000005	HP:0034345	Mendelian inheritance	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000005	HP:0034345	Mendelian inheritance	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0000005	HP:0034345	Mendelian inheritance	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4		161
HP:0000005	HP:0034345	Mendelian inheritance	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP112 CL E G H	201134	28514	OMIM:619044	SPERMATOGENIC FAILURE 44; SPGF44		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive		38
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive		146
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15		34
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14		342
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP290 CL E G H	80184	29021	OMIM:611755	Leber congenital amaurosis 10		342
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6		342
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15		90
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6		31
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26		71
HP:0000005	HP:0034345	Mendelian inheritance	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000005	HP:0034345	Mendelian inheritance	1	CES1 CL E G H	1066	1863	OMIM:618057	DRUG METABOLISM, ALTERED, CES1-RELATED		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP251 CL E G H	144406	28506	OMIM:618152	Spermatogenic failure 33
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP58 CL E G H	159686	26676	OMIM:619144	SPERMATOGENIC FAILURE 49; SPGF49
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP69 CL E G H	79846	26107	OMIM:617959	SPERMATOGENIC FAILURE 24; SPGF24
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP70 CL E G H	118491	30726	OMIM:618670	SPERMATOGENIC FAILURE 41; SPGF41
HP:0000005	HP:0034345	Mendelian inheritance	1	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0000005	HP:0034345	Mendelian inheritance	1	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0000005	HP:0034345	Mendelian inheritance	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4		30
HP:0000005	HP:0034335	Inheritance modifier	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0000005	HP:0034345	Mendelian inheritance	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0000005	HP:0034345	Mendelian inheritance	1	CFD CL E G H	1675	2771	OMIM:613912	Complement factor D deficiency		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen		86
HP:0000005	HP:0034345	Mendelian inheritance	1	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency		86
HP:0000005	HP:0034345	Mendelian inheritance	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0000005	HP:0001426	Multifactorial inheritance	1	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4		86
HP:0000005	HP:0034345	Mendelian inheritance	1	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4		86
HP:0000005	HP:0034345	Mendelian inheritance	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0000005	HP:0034345	Mendelian inheritance	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000005	HP:0034345	Mendelian inheritance	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0000005	HP:0034345	Mendelian inheritance	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000005	HP:0034345	Mendelian inheritance	1	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency		47
HP:0000005	HP:0034345	Mendelian inheritance	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0000005	HP:0034345	Mendelian inheritance	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13		57
HP:0000005	HP:0034345	Mendelian inheritance	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0000005	HP:0034345	Mendelian inheritance	1	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1		1371
HP:0000005	HP:0034345	Mendelian inheritance	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0000005	HP:0034345	Mendelian inheritance	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary		1371
HP:0000005	HP:0034345	Mendelian inheritance	1	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of		1371
HP:0000005	HP:0034345	Mendelian inheritance	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0000005	HP:0034345	Mendelian inheritance	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0000005	HP:0034345	Mendelian inheritance	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000005	HP:0003745	Sporadic	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia		515
HP:0000005	HP:0034335	Inheritance modifier	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000005	HP:0034345	Mendelian inheritance	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000005	HP:0034335	Inheritance modifier	1	CHEK2 CL E G H	11200	16627	OMIM:114480	Breast cancer		833
HP:0000005	HP:0034345	Mendelian inheritance	1	CHEK2 CL E G H	11200	16627	OMIM:114480	Breast cancer		833
HP:0000005	HP:0034335	Inheritance modifier	1	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer		833
HP:0000005	HP:0034345	Mendelian inheritance	1	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer		833
HP:0000005	HP:0034345	Mendelian inheritance	1	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0000005	HP:0034335	Inheritance modifier	1	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma		833
HP:0000005	HP:0034335	Inheritance modifier	1	CHEK2 CL E G H	11200	16627	OMIM:176807	Prostate cancer		833
HP:0000005	HP:0034345	Mendelian inheritance	1	CHEK2 CL E G H	11200	16627	OMIM:176807	Prostate cancer		833
HP:0000005	HP:0034345	Mendelian inheritance	1	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA		1
HP:0000005	HP:0034335	Inheritance modifier	1	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0000005	HP:0034345	Mendelian inheritance	1	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0000005	HP:0034345	Mendelian inheritance	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000005	HP:0034345	Mendelian inheritance	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type		53
HP:0000005	HP:0034345	Mendelian inheritance	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0000005	HP:0034345	Mendelian inheritance	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000005	HP:0034345	Mendelian inheritance	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0000005	HP:0034345	Mendelian inheritance	1	CHMP4B CL E G H	128866	16171	OMIM:605387	Cataract 31, multiple types		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2		35
HP:0000005	HP:0034345	Mendelian inheritance	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0000005	HP:0034335	Inheritance modifier	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000005	HP:0034335	Inheritance modifier	1	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1		225
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1		225
HP:0000005	HP:0034335	Inheritance modifier	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency		53
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNB2 CL E G H	1141	1962	OMIM:605375	EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel		139
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000005	HP:0034345	Mendelian inheritance	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0000005	HP:0034345	Mendelian inheritance	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0000005	HP:0034345	Mendelian inheritance	1	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1		129
HP:0000005	HP:0034345	Mendelian inheritance	1	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0000005	HP:0034345	Mendelian inheritance	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3
HP:0000005	HP:0034345	Mendelian inheritance	1	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48		15
HP:0000005	HP:0034345	Mendelian inheritance	1	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ		15
HP:0000005	HP:0034345	Mendelian inheritance	1	CIBAR1 CL E G H	137392	30452	OMIM:618219	POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0000005	HP:0034345	Mendelian inheritance	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0000005	HP:0034345	Mendelian inheritance	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0000005	HP:0034345	Mendelian inheritance	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0000005	HP:0034345	Mendelian inheritance	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000005	HP:0034335	Inheritance modifier	1	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10
HP:0000005	HP:0034345	Mendelian inheritance	1	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10
HP:0000005	HP:0034345	Mendelian inheritance	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0000005	HP:0034345	Mendelian inheritance	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive		15
HP:0000005	HP:0034345	Mendelian inheritance	1	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN2 CL E G H	1181	2020	OMIM:607628	Epilepsy with grand mal seizures on awakening		44
HP:0000005	HP:0034335	Inheritance modifier	1	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0000005	HP:0034345	Mendelian inheritance	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29		57
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement		42
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000005	HP:0034345	Mendelian inheritance	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000005	HP:0034345	Mendelian inheritance	1	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0000005	HP:0034345	Mendelian inheritance	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5		141
HP:0000005	HP:0034345	Mendelian inheritance	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0000005	HP:0034345	Mendelian inheritance	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6		143
HP:0000005	HP:0034345	Mendelian inheritance	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8		111
HP:0000005	HP:0034345	Mendelian inheritance	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant		111
HP:0000005	HP:0034345	Mendelian inheritance	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0000005	HP:0034345	Mendelian inheritance	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0000005	HP:0034345	Mendelian inheritance	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0000005	HP:0034345	Mendelian inheritance	1	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0000005	HP:0034345	Mendelian inheritance	1	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3		13
HP:0000005	HP:0034345	Mendelian inheritance	1	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2
HP:0000005	HP:0034345	Mendelian inheritance	1	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa		60
HP:0000005	HP:0034345	Mendelian inheritance	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0000005	HP:0034345	Mendelian inheritance	1	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA		60
HP:0000005	HP:0034345	Mendelian inheritance	1	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000005	HP:0034345	Mendelian inheritance	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa		44
HP:0000005	HP:0034345	Mendelian inheritance	1	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49		44
HP:0000005	HP:0034345	Mendelian inheritance	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000005	HP:0034345	Mendelian inheritance	1	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45		164
HP:0000005	HP:0034345	Mendelian inheritance	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3		194
HP:0000005	HP:0034345	Mendelian inheritance	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0000005	HP:0034345	Mendelian inheritance	1	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal		47
HP:0000005	HP:0034345	Mendelian inheritance	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation		47
HP:0000005	HP:0034345	Mendelian inheritance	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0000005	HP:0034345	Mendelian inheritance	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000005	HP:0034345	Mendelian inheritance	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000005	HP:0034345	Mendelian inheritance	1	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0000005	HP:0034345	Mendelian inheritance	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north		40
HP:0000005	HP:0034345	Mendelian inheritance	1	CNTN2 CL E G H	6900	2172	OMIM:615400	Epilepsy, familial adult myoclonic, 5		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1		518
HP:0000005	HP:0034345	Mendelian inheritance	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0000005	HP:0034345	Mendelian inheritance	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0000005	HP:0034345	Mendelian inheritance	1	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0000005	HP:0034345	Mendelian inheritance	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0000005	HP:0034345	Mendelian inheritance	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0000005	HP:0034345	Mendelian inheritance	1	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12		16
HP:0000005	HP:0034345	Mendelian inheritance	1	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9		46
HP:0000005	HP:0034345	Mendelian inheritance	1	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110		46
HP:0000005	HP:0034345	Mendelian inheritance	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000005	HP:0034345	Mendelian inheritance	1	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq		2
HP:0000005	HP:0034345	Mendelian inheritance	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj		67
HP:0000005	HP:0034345	Mendelian inheritance	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0000005	HP:0034345	Mendelian inheritance	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0000005	HP:0034345	Mendelian inheritance	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000005	HP:0034345	Mendelian inheritance	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0000005	HP:0034345	Mendelian inheritance	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0000005	HP:0034345	Mendelian inheritance	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0000005	HP:0034345	Mendelian inheritance	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37		215
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13		222
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53		222
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0000005	HP:0034345	Mendelian inheritance	1	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III		222
HP:0000005	HP:0034345	Mendelian inheritance	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0000005	HP:0034345	Mendelian inheritance	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0000005	HP:0034345	Mendelian inheritance	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0000005	HP:0034345	Mendelian inheritance	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0000005	HP:0034345	Mendelian inheritance	1	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy		129
HP:0000005	HP:0034345	Mendelian inheritance	1	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC		177
HP:0000005	HP:0034345	Mendelian inheritance	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS		373
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV		243
HP:0000005	HP:0034345	Mendelian inheritance	1	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS		243
HP:0000005	HP:0034345	Mendelian inheritance	1	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5		3
HP:0000005	HP:0034345	Mendelian inheritance	1	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0000005	HP:0001426	Multifactorial inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.	284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED		284
HP:0000005	HP:0034345	Mendelian inheritance	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000005	HP:0034345	Mendelian inheritance	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0000005	HP:0034335	Inheritance modifier	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of		193
HP:0000005	HP:0034335	Inheritance modifier	1	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant		161
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive		161
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A3 CL E G H	1285	2204	OMIM:141200	Hematuria, benign familial		161
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive		174
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A4 CL E G H	1286	2206	OMIM:141200	Hematuria, benign familial		174
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked		678
HP:0000005	HP:0034345	Mendelian inheritance	1	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6		18
HP:0000005	HP:0034345	Mendelian inheritance	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000005	HP:0034345	Mendelian inheritance	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000005	HP:0034345	Mendelian inheritance	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1		442
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1		478
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1		702
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0000005	HP:0034345	Mendelian inheritance	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0000005	HP:0034345	Mendelian inheritance	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant		263
HP:0000005	HP:0034345	Mendelian inheritance	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0000005	HP:0034345	Mendelian inheritance	1	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial		263
HP:0000005	HP:0034345	Mendelian inheritance	1	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa		263
HP:0000005	HP:0034345	Mendelian inheritance	1	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails		263
HP:0000005	HP:0034345	Mendelian inheritance	1	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8		263
HP:0000005	HP:0034345	Mendelian inheritance	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn		263
HP:0000005	HP:0034345	Mendelian inheritance	1	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	COL8A2 CL E G H	1296	2216	OMIM:609140	Corneal dystrophy, posterior polymorphous, 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0000005	HP:0034345	Mendelian inheritance	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0000005	HP:0034345	Mendelian inheritance	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0000005	HP:0034345	Mendelian inheritance	1	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V		110
HP:0000005	HP:0034345	Mendelian inheritance	1	COL9A3 CL E G H	1299	2219	OMIM:620022			137
HP:0000005	HP:0034345	Mendelian inheritance	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0000005	HP:0034345	Mendelian inheritance	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0000005	HP:0034345	Mendelian inheritance	1	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3
HP:0000005	HP:0034345	Mendelian inheritance	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0000005	HP:0034345	Mendelian inheritance	1	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0000005	HP:0034345	Mendelian inheritance	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0000005	HP:0034345	Mendelian inheritance	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0000005	HP:0034345	Mendelian inheritance	1	COMT CL E G H	1312	2228	OMIM:167870	Panic disorder 1		6
HP:0000005	HP:0034345	Mendelian inheritance	1	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA		6
HP:0000005	HP:0034345	Mendelian inheritance	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0000005	HP:0034345	Mendelian inheritance	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0000005	HP:0034345	Mendelian inheritance	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0000005	HP:0034345	Mendelian inheritance	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0000005	HP:0003745	Sporadic	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7		24
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4		136
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9		35
HP:0000005	HP:0034345	Mendelian inheritance	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5		44
HP:0000005	HP:0034345	Mendelian inheritance	1	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0000005	HP:0034345	Mendelian inheritance	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0000005	HP:0034345	Mendelian inheritance	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0000005	HP:0034345	Mendelian inheritance	1	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6		104
HP:0000005	HP:0034345	Mendelian inheritance	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000005	HP:0034345	Mendelian inheritance	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0000005	HP:0034335	Inheritance modifier	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000005	HP:0034345	Mendelian inheritance	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis		13
HP:0000005	HP:0034345	Mendelian inheritance	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000005	HP:0034345	Mendelian inheritance	1	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D		4
HP:0000005	HP:0034345	Mendelian inheritance	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000005	HP:0034345	Mendelian inheritance	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0000005	HP:0034345	Mendelian inheritance	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0000005	HP:0034345	Mendelian inheritance	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0000005	HP:0034345	Mendelian inheritance	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA		115
HP:0000005	HP:0034345	Mendelian inheritance	1	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0000005	HP:0034345	Mendelian inheritance	1	CPA6 CL E G H	57094	17245	OMIM:614418	FEBRILE SEIZURES, FAMILIAL, 11; FEB11		49
HP:0000005	HP:0034345	Mendelian inheritance	1	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000005	HP:0034345	Mendelian inheritance	1	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0000005	HP:0034345	Mendelian inheritance	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000005	HP:0034345	Mendelian inheritance	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000005	HP:0003745	Sporadic	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency		2
HP:0000005	HP:0034335	Inheritance modifier	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0000005	HP:0034345	Mendelian inheritance	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0000005	HP:0034345	Mendelian inheritance	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0000005	HP:0034345	Mendelian inheritance	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to		124
HP:0000005	HP:0034345	Mendelian inheritance	1	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000005	HP:0034345	Mendelian inheritance	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000005	HP:0034345	Mendelian inheritance	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0000005	HP:0034345	Mendelian inheritance	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0000005	HP:0034345	Mendelian inheritance	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000005	HP:0034345	Mendelian inheritance	1	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced		101
HP:0000005	HP:0034345	Mendelian inheritance	1	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4		101
HP:0000005	HP:0034345	Mendelian inheritance	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0000005	HP:0034345	Mendelian inheritance	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0000005	HP:0034345	Mendelian inheritance	1	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy		156
HP:0000005	HP:0034345	Mendelian inheritance	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12		156
HP:0000005	HP:0034345	Mendelian inheritance	1	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0000005	HP:0034345	Mendelian inheritance	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease		12
HP:0000005	HP:0034345	Mendelian inheritance	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0000005	HP:0034335	Inheritance modifier	1	CREB1 CL E G H	1385	2345	OMIM:612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0000005	HP:0034345	Mendelian inheritance	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000005	HP:0034345	Mendelian inheritance	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000005	HP:0003745	Sporadic	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000005	HP:0034335	Inheritance modifier	1	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0000005	HP:0034345	Mendelian inheritance	1	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0000005	HP:0034345	Mendelian inheritance	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0000005	HP:0034345	Mendelian inheritance	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0000005	HP:0034345	Mendelian inheritance	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0000005	HP:0034345	Mendelian inheritance	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0000005	HP:0034345	Mendelian inheritance	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0000005	HP:0034345	Mendelian inheritance	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7		158
HP:0000005	HP:0034345	Mendelian inheritance	1	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa		158
HP:0000005	HP:0034345	Mendelian inheritance	1	CRY1 CL E G H	1407	2384	OMIM:614163	Delayed sleep phase disorder, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types		33
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2		46
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2		46
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related		46
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYBA1 CL E G H	1411	2394	OMIM:600881	Cataract, congenital zonular, with sutural opacities		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYBA2 CL E G H	1412	2395	OMIM:115900	Cataract 42
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYBA4 CL E G H	1413	2396	OMIM:610425	CATARACT 23, MULTIPLE TYPES; CTRCT23		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types		18
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types		13
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYBB3 CL E G H	1417	2400	OMIM:609741	Cataract 22, multiple types		22
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYGB CL E G H	1419	2409	OMIM:615188	Cataract, multiple types		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types		11
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYGD CL E G H	1421	2411	OMIM:115700	Cataract, crystalline aculeiform		29
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYGS CL E G H	1427	2417	OMIM:116100	Cataract, membranous		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40		15
HP:0000005	HP:0034345	Mendelian inheritance	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0000005	HP:0034345	Mendelian inheritance	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0000005	HP:0034345	Mendelian inheritance	1	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0000005	HP:0034345	Mendelian inheritance	1	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5		17
HP:0000005	HP:0034345	Mendelian inheritance	1	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive		34
HP:0000005	HP:0034345	Mendelian inheritance	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0000005	HP:0034345	Mendelian inheritance	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000005	HP:0034345	Mendelian inheritance	1	CSNK1D CL E G H	1453	2452	OMIM:615224	Advanced sleep phase syndrome, familial, 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0000005	HP:0034345	Mendelian inheritance	1	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0000005	HP:0034345	Mendelian inheritance	1	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0000005	HP:0034345	Mendelian inheritance	1	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI		3
HP:0000005	HP:0001426	Multifactorial inheritance	1	CST3 CL E G H	1471	2475	OMIM:611953	Macular degeneration, age-related, 11		3
HP:0000005	HP:0034345	Mendelian inheritance	1	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0000005	HP:0034345	Mendelian inheritance	1	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0000005	HP:0034345	Mendelian inheritance	1	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000005	HP:0003745	Sporadic	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0000005	HP:0034345	Mendelian inheritance	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0000005	HP:0034345	Mendelian inheritance	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000005	HP:0034345	Mendelian inheritance	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0000005	HP:0034345	Mendelian inheritance	1	CTH CL E G H	1491	2501	OMIM:219500	CYSTATHIONINURIA		38
HP:0000005	HP:0034335	Inheritance modifier	1	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus		1
HP:0000005	HP:0034335	Inheritance modifier	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CTLA4 CL E G H	1493	2505	OMIM:140300	Hashimoto thyroiditis		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2		141
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0000005	HP:0034335	Inheritance modifier	1	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7		88
HP:0000005	HP:0034335	Inheritance modifier	1	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma		88
HP:0000005	HP:0034335	Inheritance modifier	1	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0000005	HP:0034335	Inheritance modifier	1	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer		88
HP:0000005	HP:0034335	Inheritance modifier	1	CTNNB1 CL E G H	1499	2514	OMIM:132600	PILOMATRIXOMA		88
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type		178
HP:0000005	HP:0034345	Mendelian inheritance	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000005	HP:0034345	Mendelian inheritance	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary		39
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome		50
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome		50
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSC CL E G H	1075	2528	OMIM:170650	Periodontitis, aggressive, 1		50
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13		20
HP:0000005	HP:0034345	Mendelian inheritance	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0000005	HP:0034345	Mendelian inheritance	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0000005	HP:0034345	Mendelian inheritance	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0000005	HP:0034345	Mendelian inheritance	1	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE		92
HP:0000005	HP:0034345	Mendelian inheritance	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000005	HP:0034345	Mendelian inheritance	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000005	HP:0034345	Mendelian inheritance	1	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67
HP:0000005	HP:0034345	Mendelian inheritance	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0000005	HP:0034345	Mendelian inheritance	1	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0000005	HP:0034345	Mendelian inheritance	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase		24
HP:0000005	HP:0034345	Mendelian inheritance	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0000005	HP:0034345	Mendelian inheritance	1	CYBB CL E G H	1536	2578	OMIM:300645	Atypical mycobacteriosis, familial, X-linked 2		111
HP:0000005	HP:0034345	Mendelian inheritance	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0000005	HP:0034345	Mendelian inheritance	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0000005	HP:0034345	Mendelian inheritance	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0000005	HP:0034345	Mendelian inheritance	1	CYCS CL E G H	54205	19986	OMIM:612004	Thrombocytopenia 4		82
HP:0000005	HP:0034345	Mendelian inheritance	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0000005	HP:0034345	Mendelian inheritance	1	CYLD CL E G H	1540	2584	OMIM:605041	Brooke-Spiegler syndrome		126
HP:0000005	HP:0034345	Mendelian inheritance	1	CYLD CL E G H	1540	2584	OMIM:132700	Cylindromatosis, familial		126
HP:0000005	HP:0034345	Mendelian inheritance	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0000005	HP:0034345	Mendelian inheritance	1	CYLD CL E G H	1540	2584	OMIM:601606	Trichoepithelioma, multiple familial, 1		126
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency		73
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency		53
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP19A1 CL E G H	1588	2594	OMIM:613546	Aromatase deficiency		60
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome		60
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP1B1 CL E G H	1545	2597	OMIM:617315	ANTERIOR SEGMENT DYSGENESIS 6; ASGD6		101
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP1B1 CL E G H	1545	2597	OMIM:231300	Glaucoma 3, primary congenital, A		101
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP1B1 CL E G H	1545	2597	OMIM:600975	Glaucoma 3, primary infantile, B		101
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		86
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP26C1 CL E G H	340665	20577	OMIM:614974	FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4		2
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP2A6 CL E G H	1548	2610	OMIM:122700	Coumarin resistance		6
HP:0000005	HP:0034335	Inheritance modifier	1	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to		6
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP2C9 CL E G H	1559	2623	OMIM:122700	Coumarin resistance		10
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP2D6 CL E G H	1565	2625	OMIM:608902	Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included		19
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0000005	HP:0001426	Multifactorial inheritance	1	CYP3A5 CL E G H	1577	2638	OMIM:145500	Hypertension, essential	.	2
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy		126
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0000005	HP:0034335	Inheritance modifier	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0000005	HP:0034345	Mendelian inheritance	1	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000005	HP:0034345	Mendelian inheritance	1	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37		4
HP:0000005	HP:0034345	Mendelian inheritance	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0000005	HP:0034345	Mendelian inheritance	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0000005	HP:0034345	Mendelian inheritance	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0000005	HP:0034345	Mendelian inheritance	1	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA
HP:0000005	HP:0034345	Mendelian inheritance	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000005	HP:0034345	Mendelian inheritance	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation		60
HP:0000005	HP:0034345	Mendelian inheritance	1	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0000005	HP:0034345	Mendelian inheritance	1	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0000005	HP:0034345	Mendelian inheritance	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease		156
HP:0000005	HP:0034345	Mendelian inheritance	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0000005	HP:0034345	Mendelian inheritance	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0000005	HP:0034335	Inheritance modifier	1	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer		36
HP:0000005	HP:0034345	Mendelian inheritance	1	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer		36
HP:0000005	HP:0034335	Inheritance modifier	1	DCC CL E G H	1630	2701	OMIM:133239	Esophageal cancer, somatic		36
HP:0000005	HP:0034345	Mendelian inheritance	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0000005	HP:0034335	Inheritance modifier	1	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1		36
HP:0000005	HP:0034345	Mendelian inheritance	1	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1		36
HP:0000005	HP:0034345	Mendelian inheritance	1	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66		8
HP:0000005	HP:0034345	Mendelian inheritance	1	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19		8
HP:0000005	HP:0034345	Mendelian inheritance	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0000005	HP:0034335	Inheritance modifier	1	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2		27
HP:0000005	HP:0034345	Mendelian inheritance	1	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2		27
HP:0000005	HP:0034345	Mendelian inheritance	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0000005	HP:0034345	Mendelian inheritance	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0000005	HP:0034345	Mendelian inheritance	1	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal		31
HP:0000005	HP:0034345	Mendelian inheritance	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000005	HP:0034345	Mendelian inheritance	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0000005	HP:0034345	Mendelian inheritance	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0000005	HP:0034345	Mendelian inheritance	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0000005	HP:0034335	Inheritance modifier	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0000005	HP:0034345	Mendelian inheritance	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0000005	HP:0034345	Mendelian inheritance	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000005	HP:0034345	Mendelian inheritance	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0000005	HP:0034345	Mendelian inheritance	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0000005	HP:0034345	Mendelian inheritance	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0000005	HP:0034345	Mendelian inheritance	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0000005	HP:0034345	Mendelian inheritance	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0000005	HP:0034345	Mendelian inheritance	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0000005	HP:0034345	Mendelian inheritance	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000005	HP:0034345	Mendelian inheritance	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0000005	HP:0034345	Mendelian inheritance	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0000005	HP:0034345	Mendelian inheritance	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000005	HP:0034345	Mendelian inheritance	1	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034335	Inheritance modifier	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0000005	HP:0034345	Mendelian inheritance	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0000005	HP:0034345	Mendelian inheritance	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000005	HP:0034345	Mendelian inheritance	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder		33
HP:0000005	HP:0034345	Mendelian inheritance	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24		33
HP:0000005	HP:0034345	Mendelian inheritance	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0000005	HP:0034345	Mendelian inheritance	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000005	HP:0034345	Mendelian inheritance	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0000005	HP:0034335	Inheritance modifier	1	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci		172
HP:0000005	HP:0034345	Mendelian inheritance	1	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci		172
HP:0000005	HP:0034345	Mendelian inheritance	1	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I		263
HP:0000005	HP:0034345	Mendelian inheritance	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0000005	HP:0034345	Mendelian inheritance	1	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type		263
HP:0000005	HP:0034345	Mendelian inheritance	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0000005	HP:0034345	Mendelian inheritance	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7		17
HP:0000005	HP:0034345	Mendelian inheritance	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0000005	HP:0034345	Mendelian inheritance	1	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic		57
HP:0000005	HP:0034345	Mendelian inheritance	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		57
HP:0000005	HP:0034345	Mendelian inheritance	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000005	HP:0034345	Mendelian inheritance	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000005	HP:0034345	Mendelian inheritance	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0000005	HP:0034345	Mendelian inheritance	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0000005	HP:0034345	Mendelian inheritance	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency		7
HP:0000005	HP:0034345	Mendelian inheritance	1	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0000005	HP:0034345	Mendelian inheritance	1	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0000005	HP:0034345	Mendelian inheritance	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0000005	HP:0034345	Mendelian inheritance	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000005	HP:0034345	Mendelian inheritance	1	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD		12
HP:0000005	HP:0034345	Mendelian inheritance	1	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0000005	HP:0034345	Mendelian inheritance	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000005	HP:0034345	Mendelian inheritance	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0000005	HP:0034345	Mendelian inheritance	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84		1
HP:0000005	HP:0034345	Mendelian inheritance	1	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64		11
HP:0000005	HP:0034345	Mendelian inheritance	1	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0000005	HP:0034345	Mendelian inheritance	1	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome		118
HP:0000005	HP:0034345	Mendelian inheritance	1	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0000005	HP:0034345	Mendelian inheritance	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0000005	HP:0001442	Somatic mosaicism	1	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.	670
HP:0000005	HP:0034345	Mendelian inheritance	1	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0000005	HP:0034345	Mendelian inheritance	1	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0000005	HP:0034345	Mendelian inheritance	1	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0000005	HP:0034345	Mendelian inheritance	1	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0000005	HP:0034345	Mendelian inheritance	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0000005	HP:0034345	Mendelian inheritance	1	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA
HP:0000005	HP:0034345	Mendelian inheritance	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000005	HP:0034345	Mendelian inheritance	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0000005	HP:0034335	Inheritance modifier	1	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer		11
HP:0000005	HP:0034345	Mendelian inheritance	1	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer		11
HP:0000005	HP:0034345	Mendelian inheritance	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0000005	HP:0034345	Mendelian inheritance	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0000005	HP:0034345	Mendelian inheritance	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0000005	HP:0034345	Mendelian inheritance	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0000005	HP:0034335	Inheritance modifier	1	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7
HP:0000005	HP:0034345	Mendelian inheritance	1	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7
HP:0000005	HP:0034345	Mendelian inheritance	1	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0000005	HP:0034345	Mendelian inheritance	1	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome		48
HP:0000005	HP:0034345	Mendelian inheritance	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000005	HP:0034335	Inheritance modifier	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0000005	HP:0034345	Mendelian inheritance	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0000005	HP:0034345	Mendelian inheritance	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type		1496
HP:0000005	HP:0034345	Mendelian inheritance	1	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD		27
HP:0000005	HP:0034345	Mendelian inheritance	1	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive		48
HP:0000005	HP:0034345	Mendelian inheritance	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0000005	HP:0034345	Mendelian inheritance	1	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6		41
HP:0000005	HP:0034345	Mendelian inheritance	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8		41
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37		21
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH1 CL E G H	25981	2940	OMIM:617576	Spermatogenic failure 18		21
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH2 CL E G H	146754	2948	OMIM:619094	SPERMATOGENIC FAILURE 45; SPGF45		15
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46		153
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5		30
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0000005	HP:0034345	Mendelian inheritance	1	DNAL4 CL E G H	10126	2955	OMIM:616059	Mirror movements 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0000005	HP:0034345	Mendelian inheritance	1	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0000005	HP:0034345	Mendelian inheritance	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31		72
HP:0000005	HP:0034345	Mendelian inheritance	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0000005	HP:0034345	Mendelian inheritance	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5		94
HP:0000005	HP:0034345	Mendelian inheritance	1	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B		167
HP:0000005	HP:0034345	Mendelian inheritance	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0000005	HP:0034345	Mendelian inheritance	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0000005	HP:0034345	Mendelian inheritance	1	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000005	HP:0034345	Mendelian inheritance	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant		145
HP:0000005	HP:0034345	Mendelian inheritance	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE		145
HP:0000005	HP:0034345	Mendelian inheritance	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0000005	HP:0034335	Inheritance modifier	1	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0000005	HP:0034345	Mendelian inheritance	1	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0000005	HP:0034345	Mendelian inheritance	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0000005	HP:0001426	Multifactorial inheritance	1	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4		79
HP:0000005	HP:0034345	Mendelian inheritance	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0000005	HP:0034345	Mendelian inheritance	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0000005	HP:0034345	Mendelian inheritance	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0000005	HP:0034345	Mendelian inheritance	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23		11
HP:0000005	HP:0034345	Mendelian inheritance	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0000005	HP:0034345	Mendelian inheritance	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000005	HP:0034345	Mendelian inheritance	1	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3		91
HP:0000005	HP:0034345	Mendelian inheritance	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0000005	HP:0034345	Mendelian inheritance	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0000005	HP:0034345	Mendelian inheritance	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities		9
HP:0000005	HP:0034345	Mendelian inheritance	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0000005	HP:0034345	Mendelian inheritance	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0000005	HP:0034345	Mendelian inheritance	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0000005	HP:0034345	Mendelian inheritance	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000005	HP:0034345	Mendelian inheritance	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000005	HP:0034345	Mendelian inheritance	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000005	HP:0034345	Mendelian inheritance	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0000005	HP:0034345	Mendelian inheritance	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0000005	HP:0034345	Mendelian inheritance	1	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0000005	HP:0034345	Mendelian inheritance	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0000005	HP:0034345	Mendelian inheritance	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33		18
HP:0000005	HP:0034345	Mendelian inheritance	1	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2		18
HP:0000005	HP:0034345	Mendelian inheritance	1	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9		17
HP:0000005	HP:0034345	Mendelian inheritance	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0000005	HP:0034345	Mendelian inheritance	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria		44
HP:0000005	HP:0034345	Mendelian inheritance	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000005	HP:0034345	Mendelian inheritance	1	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21		9
HP:0000005	HP:0034345	Mendelian inheritance	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0000005	HP:0034345	Mendelian inheritance	1	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA		21
HP:0000005	HP:0034345	Mendelian inheritance	1	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1		21
HP:0000005	HP:0034345	Mendelian inheritance	1	DRD4 CL E G H	1815	3025	OMIM:143465	Attention deficit-hyperactivity disorder		4
HP:0000005	HP:0034345	Mendelian inheritance	1	DRD5 CL E G H	1816	3026	OMIM:143465	Attention deficit-hyperactivity disorder		3
HP:0000005	HP:0034345	Mendelian inheritance	1	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to		3
HP:0000005	HP:0003745	Sporadic	1	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0000005	HP:0034345	Mendelian inheritance	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0000005	HP:0034345	Mendelian inheritance	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0000005	HP:0034345	Mendelian inheritance	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0000005	HP:0034345	Mendelian inheritance	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0000005	HP:0034345	Mendelian inheritance	1	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0000005	HP:0034345	Mendelian inheritance	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0000005	HP:0034345	Mendelian inheritance	1	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0000005	HP:0034345	Mendelian inheritance	1	DSG3 CL E G H	1830	3050	OMIM:619226	BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA; ABOLM
HP:0000005	HP:0034345	Mendelian inheritance	1	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0000005	HP:0034345	Mendelian inheritance	1	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0000005	HP:0034345	Mendelian inheritance	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0000005	HP:0034345	Mendelian inheritance	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		747
HP:0000005	HP:0034345	Mendelian inheritance	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0000005	HP:0034345	Mendelian inheritance	1	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0000005	HP:0034345	Mendelian inheritance	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0000005	HP:0034345	Mendelian inheritance	1	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1		38
HP:0000005	HP:0034345	Mendelian inheritance	1	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II		38
HP:0000005	HP:0034345	Mendelian inheritance	1	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1		38
HP:0000005	HP:0034345	Mendelian inheritance	1	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:0000005	HP:0034345	Mendelian inheritance	1	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0000005	HP:0034345	Mendelian inheritance	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0000005	HP:0034335	Inheritance modifier	1	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0000005	HP:0034345	Mendelian inheritance	1	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0000005	HP:0034345	Mendelian inheritance	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0000005	HP:0034345	Mendelian inheritance	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0000005	HP:0034345	Mendelian inheritance	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7		46
HP:0000005	HP:0034345	Mendelian inheritance	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000005	HP:0034345	Mendelian inheritance	1	DUOX2 CL E G H	50506	13273	OMIM:607200	Thyroid dyshormonogenesis 6		121
HP:0000005	HP:0034345	Mendelian inheritance	1	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5		11
HP:0000005	HP:0034345	Mendelian inheritance	1	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia		4
HP:0000005	HP:0034345	Mendelian inheritance	1	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0000005	HP:0034345	Mendelian inheritance	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0000005	HP:0034345	Mendelian inheritance	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000005	HP:0034345	Mendelian inheritance	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000005	HP:0034345	Mendelian inheritance	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000005	HP:0034345	Mendelian inheritance	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0000005	HP:0034345	Mendelian inheritance	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1		65
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O		427
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0000005	HP:0001426	Multifactorial inheritance	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0000005	HP:0034345	Mendelian inheritance	1	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0000005	HP:0034345	Mendelian inheritance	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000005	HP:0034345	Mendelian inheritance	1	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3		7
HP:0000005	HP:0034345	Mendelian inheritance	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1		600
HP:0000005	HP:0034345	Mendelian inheritance	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0000005	HP:0034345	Mendelian inheritance	1	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset		600
HP:0000005	HP:0034335	Inheritance modifier	1	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0000005	HP:0034345	Mendelian inheritance	1	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0000005	HP:0034345	Mendelian inheritance	1	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0000005	HP:0034345	Mendelian inheritance	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0000005	HP:0034345	Mendelian inheritance	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0000005	HP:0034345	Mendelian inheritance	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000005	HP:0034345	Mendelian inheritance	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0000005	HP:0034345	Mendelian inheritance	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0000005	HP:0034345	Mendelian inheritance	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0000005	HP:0001426	Multifactorial inheritance	1	ECE1 CL E G H	1889	3146	OMIM:145500	Hypertension, essential	.	13
HP:0000005	HP:0034345	Mendelian inheritance	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0000005	HP:0034345	Mendelian inheritance	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0000005	HP:0034345	Mendelian inheritance	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0000005	HP:0034345	Mendelian inheritance	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0000005	HP:0034345	Mendelian inheritance	1	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0000005	HP:0034345	Mendelian inheritance	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		86
HP:0000005	HP:0034345	Mendelian inheritance	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0000005	HP:0034345	Mendelian inheritance	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		56
HP:0000005	HP:0034345	Mendelian inheritance	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0000005	HP:0034345	Mendelian inheritance	1	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		56
HP:0000005	HP:0034345	Mendelian inheritance	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0000005	HP:0034345	Mendelian inheritance	1	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50		1
HP:0000005	HP:0034345	Mendelian inheritance	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000005	HP:0034345	Mendelian inheritance	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0000005	HP:0034345	Mendelian inheritance	1	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated		6
HP:0000005	HP:0034345	Mendelian inheritance	1	EDN3 CL E G H	1908	3178	OMIM:613712	Hirschsprung disease, susceptibility to, 4		67
HP:0000005	HP:0034345	Mendelian inheritance	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B		67
HP:0000005	HP:0034345	Mendelian inheritance	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0000005	HP:0034345	Mendelian inheritance	1	EDNRB CL E G H	1910	3180	OMIM:600155	Hirschsprung disease, susceptibility to, 2		55
HP:0000005	HP:0034345	Mendelian inheritance	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0000005	HP:0034345	Mendelian inheritance	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000005	HP:0034345	Mendelian inheritance	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33		60
HP:0000005	HP:0034345	Mendelian inheritance	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0000005	HP:0034345	Mendelian inheritance	1	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26		4
HP:0000005	HP:0034345	Mendelian inheritance	1	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy		54
HP:0000005	HP:0034345	Mendelian inheritance	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0000005	HP:0034345	Mendelian inheritance	1	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence		153
HP:0000005	HP:0034345	Mendelian inheritance	1	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1		153
HP:0000005	HP:0034345	Mendelian inheritance	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0000005	HP:0034345	Mendelian inheritance	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000005	HP:0034345	Mendelian inheritance	1	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4		73
HP:0000005	HP:0034345	Mendelian inheritance	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0000005	HP:0034335	Inheritance modifier	1	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to		257
HP:0000005	HP:0034345	Mendelian inheritance	1	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to		257
HP:0000005	HP:0034345	Mendelian inheritance	1	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3		128
HP:0000005	HP:0034345	Mendelian inheritance	1	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D		58
HP:0000005	HP:0034345	Mendelian inheritance	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0000005	HP:0034345	Mendelian inheritance	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive		58
HP:0000005	HP:0034345	Mendelian inheritance	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000005	HP:0003745	Sporadic	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000005	HP:0034335	Inheritance modifier	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter		42
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter		24
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter		32
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter		38
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter		48
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18		2
HP:0000005	HP:0034345	Mendelian inheritance	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000005	HP:0034345	Mendelian inheritance	1	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17		67
HP:0000005	HP:0034345	Mendelian inheritance	1	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia		79
HP:0000005	HP:0034345	Mendelian inheritance	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0000005	HP:0034345	Mendelian inheritance	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0000005	HP:0034345	Mendelian inheritance	1	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis		172
HP:0000005	HP:0034345	Mendelian inheritance	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000005	HP:0034345	Mendelian inheritance	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000005	HP:0034345	Mendelian inheritance	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0000005	HP:0034335	Inheritance modifier	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0000005	HP:0034345	Mendelian inheritance	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0000005	HP:0034345	Mendelian inheritance	1	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0000005	HP:0034345	Mendelian inheritance	1	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38		4
HP:0000005	HP:0034335	Inheritance modifier	1	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA		133
HP:0000005	HP:0034345	Mendelian inheritance	1	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA		133
HP:0000005	HP:0034345	Mendelian inheritance	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0000005	HP:0034345	Mendelian inheritance	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0000005	HP:0034345	Mendelian inheritance	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0000005	HP:0034345	Mendelian inheritance	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000005	HP:0034345	Mendelian inheritance	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0000005	HP:0034345	Mendelian inheritance	1	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0000005	HP:0034345	Mendelian inheritance	1	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10		4
HP:0000005	HP:0034345	Mendelian inheritance	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB		50
HP:0000005	HP:0034345	Mendelian inheritance	1	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC		50
HP:0000005	HP:0034345	Mendelian inheritance	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0000005	HP:0034345	Mendelian inheritance	1	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII		34
HP:0000005	HP:0034345	Mendelian inheritance	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0000005	HP:0034345	Mendelian inheritance	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0000005	HP:0034345	Mendelian inheritance	1	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent		151
HP:0000005	HP:0034345	Mendelian inheritance	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0000005	HP:0001426	Multifactorial inheritance	1	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY		151
HP:0000005	HP:0034345	Mendelian inheritance	1	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY		151
HP:0000005	HP:0034345	Mendelian inheritance	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0000005	HP:0034335	Inheritance modifier	1	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer		250
HP:0000005	HP:0034345	Mendelian inheritance	1	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer		250
HP:0000005	HP:0034345	Mendelian inheritance	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000005	HP:0034345	Mendelian inheritance	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000005	HP:0003745	Sporadic	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000005	HP:0034345	Mendelian inheritance	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0000005	HP:0003745	Sporadic	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000005	HP:0034345	Mendelian inheritance	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0000005	HP:0034345	Mendelian inheritance	1	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1		6
HP:0000005	HP:0034345	Mendelian inheritance	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0000005	HP:0034345	Mendelian inheritance	1	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5		51
HP:0000005	HP:0034345	Mendelian inheritance	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0000005	HP:0034345	Mendelian inheritance	1	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital		170
HP:0000005	HP:0034345	Mendelian inheritance	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000005	HP:0034345	Mendelian inheritance	1	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included		87
HP:0000005	HP:0034345	Mendelian inheritance	1	EPHB2 CL E G H	2048	3393	OMIM:618462	Bleeding disorder, platelet-type, 22		7
HP:0000005	HP:0034335	Inheritance modifier	1	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0000005	HP:0034345	Mendelian inheritance	1	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL		1
HP:0000005	HP:0034345	Mendelian inheritance	1	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5		1
HP:0000005	HP:0034345	Mendelian inheritance	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000005	HP:0034345	Mendelian inheritance	1	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102		2
HP:0000005	HP:0034345	Mendelian inheritance	1	EPS8L2 CL E G H	64787	21296	OMIM:617637	DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106		2
HP:0000005	HP:0034345	Mendelian inheritance	1	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0000005	HP:0034345	Mendelian inheritance	1	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0000005	HP:0034335	Inheritance modifier	1	ERBB2 CL E G H	2064	3430	OMIM:613659	Gastric cancer, somatic		77
HP:0000005	HP:0034335	Inheritance modifier	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1		77
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1		77
HP:0000005	HP:0034335	Inheritance modifier	1	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to		77
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to		77
HP:0000005	HP:0034335	Inheritance modifier	1	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer		77
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer		77
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0000005	HP:0034335	Inheritance modifier	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19		15
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive		54
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0000005	HP:0034335	Inheritance modifier	1	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to		199
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to		199
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1		199
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000005	HP:0034345	Mendelian inheritance	1	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2		55
HP:0000005	HP:0034345	Mendelian inheritance	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0000005	HP:0034345	Mendelian inheritance	1	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type
HP:0000005	HP:0034345	Mendelian inheritance	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0000005	HP:0034345	Mendelian inheritance	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6		36
HP:0000005	HP:0034345	Mendelian inheritance	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly		92
HP:0000005	HP:0034345	Mendelian inheritance	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000005	HP:0034345	Mendelian inheritance	1	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement		33
HP:0000005	HP:0034345	Mendelian inheritance	1	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0000005	HP:0034335	Inheritance modifier	1	ESR1 CL E G H	2099	3467	OMIM:114480	Breast cancer		13
HP:0000005	HP:0034345	Mendelian inheritance	1	ESR1 CL E G H	2099	3467	OMIM:114480	Breast cancer		13
HP:0000005	HP:0034345	Mendelian inheritance	1	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance		13
HP:0000005	HP:0034345	Mendelian inheritance	1	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1		13
HP:0000005	HP:0034345	Mendelian inheritance	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0000005	HP:0034345	Mendelian inheritance	1	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000005	HP:0034345	Mendelian inheritance	1	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35		78
HP:0000005	HP:0034345	Mendelian inheritance	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0000005	HP:0034345	Mendelian inheritance	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0000005	HP:0034345	Mendelian inheritance	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0000005	HP:0034345	Mendelian inheritance	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0000005	HP:0034335	Inheritance modifier	1	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0000005	HP:0034345	Mendelian inheritance	1	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0000005	HP:0034345	Mendelian inheritance	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0000005	HP:0034345	Mendelian inheritance	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0000005	HP:0034345	Mendelian inheritance	1	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis		209
HP:0000005	HP:0034345	Mendelian inheritance	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0000005	HP:0034345	Mendelian inheritance	1	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis		137
HP:0000005	HP:0034335	Inheritance modifier	1	EWSR1 CL E G H	2130	3508	OMIM:612219	Ewing sarcoma
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B		38
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0000005	HP:0034345	Mendelian inheritance	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000005	HP:0034345	Mendelian inheritance	1	EXPH5 CL E G H	23086	30578	OMIM:615028	Epidermolysis bullosa, nonspecific, autosomal recessive		2
HP:0000005	HP:0034335	Inheritance modifier	1	EXT1 CL E G H	2131	3512	OMIM:215300	Chondrosarcoma		96
HP:0000005	HP:0034345	Mendelian inheritance	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0000005	HP:0034345	Mendelian inheritance	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0000005	HP:0034345	Mendelian inheritance	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome		102
HP:0000005	HP:0034345	Mendelian inheritance	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0000005	HP:0034335	Inheritance modifier	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000005	HP:0034345	Mendelian inheritance	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000005	HP:0034335	Inheritance modifier	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000005	HP:0034345	Mendelian inheritance	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000005	HP:0034345	Mendelian inheritance	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000005	HP:0034345	Mendelian inheritance	1	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J		111
HP:0000005	HP:0034345	Mendelian inheritance	1	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10		111
HP:0000005	HP:0034345	Mendelian inheritance	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25		209
HP:0000005	HP:0034345	Mendelian inheritance	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0000005	HP:0034345	Mendelian inheritance	1	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0000005	HP:0034345	Mendelian inheritance	1	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency		132
HP:0000005	HP:0034345	Mendelian inheritance	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0000005	HP:0034345	Mendelian inheritance	1	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency		28
HP:0000005	HP:0034345	Mendelian inheritance	1	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0000005	HP:0034345	Mendelian inheritance	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0000005	HP:0034345	Mendelian inheritance	1	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0000005	HP:0034345	Mendelian inheritance	1	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0000005	HP:0034345	Mendelian inheritance	1	F2 CL E G H	2147	3535	OMIM:614390	Pregnancy loss, recurrent, susceptibility to, 2		44
HP:0000005	HP:0001426	Multifactorial inheritance	1	F2 CL E G H	2147	3535	OMIM:601367	STROKE, ISCHEMIC		44
HP:0000005	HP:0034345	Mendelian inheritance	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0000005	HP:0034345	Mendelian inheritance	1	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome		159
HP:0000005	HP:0034345	Mendelian inheritance	1	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0000005	HP:0034345	Mendelian inheritance	1	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1		159
HP:0000005	HP:0001426	Multifactorial inheritance	1	F5 CL E G H	2153	3542	OMIM:601367	STROKE, ISCHEMIC		159
HP:0000005	HP:0034345	Mendelian inheritance	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0000005	HP:0034345	Mendelian inheritance	1	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency		70
HP:0000005	HP:0034345	Mendelian inheritance	1	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0000005	HP:0034345	Mendelian inheritance	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0000005	HP:0034345	Mendelian inheritance	1	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0000005	HP:0034345	Mendelian inheritance	1	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0000005	HP:0034345	Mendelian inheritance	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0000005	HP:0034345	Mendelian inheritance	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis		6
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28		56
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0000005	HP:0034345	Mendelian inheritance	1	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III		22
HP:0000005	HP:0034345	Mendelian inheritance	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic		15
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCM CL E G H	57697	23168	OMIM:618096	Premature ovarian failure 15		107
HP:0000005	HP:0034345	Mendelian inheritance	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0000005	HP:0034345	Mendelian inheritance	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0000005	HP:0034345	Mendelian inheritance	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0000005	HP:0034345	Mendelian inheritance	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0000005	HP:0034345	Mendelian inheritance	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0000005	HP:0034345	Mendelian inheritance	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0000005	HP:0034345	Mendelian inheritance	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000005	HP:0034345	Mendelian inheritance	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0000005	HP:0034345	Mendelian inheritance	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0000005	HP:0034335	Inheritance modifier	1	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to		37
HP:0000005	HP:0034345	Mendelian inheritance	1	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to		37
HP:0000005	HP:0034345	Mendelian inheritance	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0000005	HP:0034345	Mendelian inheritance	1	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45		2
HP:0000005	HP:0034345	Mendelian inheritance	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0000005	HP:0034345	Mendelian inheritance	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000005	HP:0034345	Mendelian inheritance	1	FBLN1 CL E G H	2192	3600	OMIM:608180	Synpolydactyly 2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0000005	HP:0034345	Mendelian inheritance	1	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2		63
HP:0000005	HP:0034345	Mendelian inheritance	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0000005	HP:0034345	Mendelian inheritance	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0000005	HP:0034345	Mendelian inheritance	1	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD		655
HP:0000005	HP:0034345	Mendelian inheritance	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency		64
HP:0000005	HP:0034345	Mendelian inheritance	1	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000005	HP:0034345	Mendelian inheritance	1	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0000005	HP:0034345	Mendelian inheritance	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0000005	HP:0034345	Mendelian inheritance	1	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus		6
HP:0000005	HP:0034345	Mendelian inheritance	1	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus		2
HP:0000005	HP:0034345	Mendelian inheritance	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0000005	HP:0034345	Mendelian inheritance	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0000005	HP:0034345	Mendelian inheritance	1	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0000005	HP:0034345	Mendelian inheritance	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000005	HP:0034345	Mendelian inheritance	1	FDPS CL E G H	2224	3631	OMIM:616631	Porokeratosis 9, multiple types		4
HP:0000005	HP:0034345	Mendelian inheritance	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0000005	HP:0034345	Mendelian inheritance	1	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000005	HP:0034345	Mendelian inheritance	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0000005	HP:0034345	Mendelian inheritance	1	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0000005	HP:0034345	Mendelian inheritance	1	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral		47
HP:0000005	HP:0034345	Mendelian inheritance	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0000005	HP:0034345	Mendelian inheritance	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000005	HP:0034345	Mendelian inheritance	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands		17
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2		2
HP:0000005	HP:0034335	Inheritance modifier	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant		51
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant		51
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF5 CL E G H	2250	3683	OMIM:190330	Trichomegaly		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0000005	HP:0034345	Mendelian inheritance	1	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0000005	HP:0001442	Somatic mosaicism	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000005	HP:0003745	Sporadic	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000005	HP:0034335	Inheritance modifier	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome		172
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0000005	HP:0034335	Inheritance modifier	1	FGFR2 CL E G H	2263	3689	OMIM:613659	Gastric cancer, somatic		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0000005	HP:0034335	Inheritance modifier	1	FGFR3 CL E G H	2261	3690	OMIM:109800	Bladder cancer		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:109800	Bladder cancer		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome		145
HP:0000005	HP:0034335	Inheritance modifier	1	FGFR3 CL E G H	2261	3690	OMIM:603956	Cervical cancer		145
HP:0000005	HP:0034335	Inheritance modifier	1	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans		145
HP:0000005	HP:0001442	Somatic mosaicism	1	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0000005	HP:0034335	Inheritance modifier	1	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic		145
HP:0000005	HP:0003745	Sporadic	1	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II		145
HP:0000005	HP:0034345	Mendelian inheritance	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000005	HP:0003745	Sporadic	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0000005	HP:0034345	Mendelian inheritance	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0000005	HP:0034335	Inheritance modifier	1	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer		301
HP:0000005	HP:0034345	Mendelian inheritance	1	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer		301
HP:0000005	HP:0034345	Mendelian inheritance	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0000005	HP:0034345	Mendelian inheritance	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0000005	HP:0034345	Mendelian inheritance	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0000005	HP:0034345	Mendelian inheritance	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0000005	HP:0034345	Mendelian inheritance	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0000005	HP:0034345	Mendelian inheritance	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0000005	HP:0034345	Mendelian inheritance	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11		111
HP:0000005	HP:0034345	Mendelian inheritance	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0000005	HP:0034345	Mendelian inheritance	1	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital		111
HP:0000005	HP:0034345	Mendelian inheritance	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000005	HP:0034335	Inheritance modifier	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000005	HP:0034345	Mendelian inheritance	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000005	HP:0034345	Mendelian inheritance	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1		61
HP:0000005	HP:0034345	Mendelian inheritance	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI		61
HP:0000005	HP:0034345	Mendelian inheritance	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0000005	HP:0001426	Multifactorial inheritance	1	FKBP5 CL E G H	2289	3721	OMIM:608516	Major depressive disorder		2
HP:0000005	HP:0034345	Mendelian inheritance	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000005	HP:0034345	Mendelian inheritance	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000005	HP:0034345	Mendelian inheritance	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0000005	HP:0034345	Mendelian inheritance	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0000005	HP:0034345	Mendelian inheritance	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0000005	HP:0034345	Mendelian inheritance	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0000005	HP:0034345	Mendelian inheritance	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000005	HP:0034345	Mendelian inheritance	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0000005	HP:0034345	Mendelian inheritance	1	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4		184
HP:0000005	HP:0034345	Mendelian inheritance	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4		184
HP:0000005	HP:0034345	Mendelian inheritance	1	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency		18
HP:0000005	HP:0034345	Mendelian inheritance	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0000005	HP:0034335	Inheritance modifier	1	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer		332
HP:0000005	HP:0034345	Mendelian inheritance	1	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer		332
HP:0000005	HP:0034335	Inheritance modifier	1	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous		332
HP:0000005	HP:0034345	Mendelian inheritance	1	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous		332
HP:0000005	HP:0003745	Sporadic	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0000005	HP:0003745	Sporadic	1	FLCN CL E G H	201163	27310	OMIM:144700	Renal cell carcinoma, nonpapillary	.	332
HP:0000005	HP:0034345	Mendelian inheritance	1	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0000005	HP:0034345	Mendelian inheritance	1	FLG2 CL E G H	388698	33276	OMIM:618084	Peeling skin syndrome 6
HP:0000005	HP:0034345	Mendelian inheritance	1	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21		8
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000005	HP:0003745	Sporadic	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant		197
HP:0000005	HP:0034345	Mendelian inheritance	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0000005	HP:0001426	Multifactorial inheritance	1	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia		4
HP:0000005	HP:0034345	Mendelian inheritance	1	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia		4
HP:0000005	HP:0001426	Multifactorial inheritance	1	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0000005	HP:0034335	Inheritance modifier	1	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0000005	HP:0034335	Inheritance modifier	1	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0000005	HP:0034345	Mendelian inheritance	1	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0000005	HP:0034345	Mendelian inheritance	1	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0000005	HP:0034345	Mendelian inheritance	1	FLT4 CL E G H	2324	3767	OMIM:602089	Hemangioma, capillary infantile		90
HP:0000005	HP:0034345	Mendelian inheritance	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000005	HP:0034345	Mendelian inheritance	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0000005	HP:0034345	Mendelian inheritance	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0000005	HP:0034345	Mendelian inheritance	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47		44
HP:0000005	HP:0034345	Mendelian inheritance	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0000005	HP:0034335	Inheritance modifier	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000005	HP:0034345	Mendelian inheritance	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000005	HP:0034345	Mendelian inheritance	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000005	HP:0034345	Mendelian inheritance	1	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1		30
HP:0000005	HP:0034345	Mendelian inheritance	1	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0000005	HP:0034345	Mendelian inheritance	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		9
HP:0000005	HP:0034345	Mendelian inheritance	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000005	HP:0034345	Mendelian inheritance	1	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency		47
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXD3 CL E G H	27022	3804	OMIM:607836	Autoimmune disease, susceptibility to, 1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate		9
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0000005	HP:0034335	Inheritance modifier	1	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000005	HP:0003745	Sporadic	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct		33
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome		33
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3		92
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0000005	HP:0034335	Inheritance modifier	1	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1		143
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0000005	HP:0034345	Mendelian inheritance	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0000005	HP:0034345	Mendelian inheritance	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000005	HP:0034345	Mendelian inheritance	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000005	HP:0034345	Mendelian inheritance	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0000005	HP:0034345	Mendelian inheritance	1	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2		198
HP:0000005	HP:0034345	Mendelian inheritance	1	FREM2 CL E G H	341640	25396	OMIM:123570	Cryptophthalmos, unilateral or bilateral, isolated		263
HP:0000005	HP:0034345	Mendelian inheritance	1	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2		263
HP:0000005	HP:0034345	Mendelian inheritance	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000005	HP:0034345	Mendelian inheritance	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked		38
HP:0000005	HP:0034345	Mendelian inheritance	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000005	HP:0034345	Mendelian inheritance	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0000005	HP:0001426	Multifactorial inheritance	1	FRZB CL E G H	2487	3959	OMIM:165720	Osteoarthritis susceptibility 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0000005	HP:0034345	Mendelian inheritance	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0000005	HP:0034345	Mendelian inheritance	1	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1		50
HP:0000005	HP:0034345	Mendelian inheritance	1	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome		50
HP:0000005	HP:0034345	Mendelian inheritance	1	FSIP2 CL E G H	401024	21675	OMIM:618153	Spermatogenic failure 34		1
HP:0000005	HP:0034345	Mendelian inheritance	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0000005	HP:0034345	Mendelian inheritance	1	FTH1 CL E G H	2495	3976	OMIM:615517	Hemochromatosis, type 5		11
HP:0000005	HP:0034345	Mendelian inheritance	1	FTL CL E G H	2512	3999	OMIM:600886	Hyperferritinemia with or without cataract		33
HP:0000005	HP:0034345	Mendelian inheritance	1	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0000005	HP:0034345	Mendelian inheritance	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0000005	HP:0034345	Mendelian inheritance	1	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14		70
HP:0000005	HP:0034345	Mendelian inheritance	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0000005	HP:0034345	Mendelian inheritance	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000005	HP:0034345	Mendelian inheritance	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0000005	HP:0034345	Mendelian inheritance	1	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia		105
HP:0000005	HP:0034345	Mendelian inheritance	1	FUS CL E G H	2521	4010	OMIM:614782	TREMOR, HEREDITARY ESSENTIAL, 4; ETM4		105
HP:0000005	HP:0034345	Mendelian inheritance	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0000005	HP:0034345	Mendelian inheritance	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0000005	HP:0034345	Mendelian inheritance	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000005	HP:0034345	Mendelian inheritance	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000005	HP:0034345	Mendelian inheritance	1	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal		17
HP:0000005	HP:0034345	Mendelian inheritance	1	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0000005	HP:0034345	Mendelian inheritance	1	FYCO1 CL E G H	79443	14673	OMIM:610019	Cataract, autosomal recessive congenital 2		140
HP:0000005	HP:0034345	Mendelian inheritance	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0000005	HP:0034345	Mendelian inheritance	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0000005	HP:0034345	Mendelian inheritance	1	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0000005	HP:0034345	Mendelian inheritance	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0000005	HP:0034345	Mendelian inheritance	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0000005	HP:0034345	Mendelian inheritance	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0000005	HP:0034345	Mendelian inheritance	1	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0000005	HP:0034345	Mendelian inheritance	1	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills		5
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19		134
HP:0000005	HP:0001426	Multifactorial inheritance	1	GABRA2 CL E G H	2555	4076	OMIM:103780	Alcohol dependence	.	4
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2		44
HP:0000005	HP:0034335	Inheritance modifier	1	GABRB3 CL E G H	2562	4083	OMIM:612269	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5		57
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRB3 CL E G H	2562	4083	OMIM:612269	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5		57
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRD CL E G H	2563	4084	OMIM:613060	Epilepsy, idiopathic generalized, 10		10
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74		139
HP:0000005	HP:0034335	Inheritance modifier	1	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8		139
HP:0000005	HP:0034345	Mendelian inheritance	1	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8		139
HP:0000005	HP:0034345	Mendelian inheritance	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000005	HP:0034345	Mendelian inheritance	1	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0000005	HP:0034345	Mendelian inheritance	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency		23
HP:0000005	HP:0034345	Mendelian inheritance	1	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0000005	HP:0034345	Mendelian inheritance	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0000005	HP:0034345	Mendelian inheritance	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000005	HP:0034345	Mendelian inheritance	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0000005	HP:0034345	Mendelian inheritance	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA		351
HP:0000005	HP:0034345	Mendelian inheritance	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0000005	HP:0034345	Mendelian inheritance	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0000005	HP:0034345	Mendelian inheritance	1	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0000005	HP:0034345	Mendelian inheritance	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0000005	HP:0034345	Mendelian inheritance	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0000005	HP:0034345	Mendelian inheritance	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0000005	HP:0034345	Mendelian inheritance	1	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0000005	HP:0003745	Sporadic	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0000005	HP:0034335	Inheritance modifier	1	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0000005	HP:0034335	Inheritance modifier	1	GATA2 CL E G H	2624	4171	OMIM:614286	Myelodysplastic syndrome		137
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4		87
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot		87
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1		87
HP:0000005	HP:0034335	Inheritance modifier	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5		10
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5		10
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B		35
HP:0000005	HP:0034345	Mendelian inheritance	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0000005	HP:0034345	Mendelian inheritance	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000005	HP:0034345	Mendelian inheritance	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3		86
HP:0000005	HP:0034345	Mendelian inheritance	1	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1		86
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0000005	HP:0003745	Sporadic	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0000005	HP:0034345	Mendelian inheritance	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0000005	HP:0034345	Mendelian inheritance	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV		86
HP:0000005	HP:0034345	Mendelian inheritance	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0000005	HP:0034345	Mendelian inheritance	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0000005	HP:0034345	Mendelian inheritance	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0000005	HP:0034345	Mendelian inheritance	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0000005	HP:0034345	Mendelian inheritance	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0000005	HP:0034345	Mendelian inheritance	1	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent		237
HP:0000005	HP:0034345	Mendelian inheritance	1	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM		237
HP:0000005	HP:0034345	Mendelian inheritance	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0000005	HP:0034345	Mendelian inheritance	1	GCK CL E G H	2645	4195	OMIM:125851	Maturity-onset diabetes of the young, type II		237
HP:0000005	HP:0034345	Mendelian inheritance	1	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0000005	HP:0034345	Mendelian inheritance	1	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0000005	HP:0034345	Mendelian inheritance	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000005	HP:0034345	Mendelian inheritance	1	GCNT2 CL E G H	2651	4204	OMIM:116700	Cataract 13 with adult i phenotype		66
HP:0000005	HP:0034345	Mendelian inheritance	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0000005	HP:0034345	Mendelian inheritance	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0000005	HP:0034345	Mendelian inheritance	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0000005	HP:0034345	Mendelian inheritance	1	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A		108
HP:0000005	HP:0034345	Mendelian inheritance	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0000005	HP:0034345	Mendelian inheritance	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5		8
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF3 CL E G H	9573	4218	OMIM:613704	Microphthalmia, isolated 7		7
HP:0000005	HP:0001426	Multifactorial inheritance	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17		64
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0000005	HP:0001426	Multifactorial inheritance	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4		64
HP:0000005	HP:0034345	Mendelian inheritance	1	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0000005	HP:0034345	Mendelian inheritance	1	GDNF CL E G H	2668	4232	OMIM:613711	Hirschsprung disease, susceptibility to, 3		59
HP:0000005	HP:0034345	Mendelian inheritance	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0000005	HP:0034345	Mendelian inheritance	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0000005	HP:0034345	Mendelian inheritance	1	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0000005	HP:0034345	Mendelian inheritance	1	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0000005	HP:0034345	Mendelian inheritance	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39		43
HP:0000005	HP:0034345	Mendelian inheritance	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0000005	HP:0034345	Mendelian inheritance	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0000005	HP:0034345	Mendelian inheritance	1	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0000005	HP:0034345	Mendelian inheritance	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0000005	HP:0034345	Mendelian inheritance	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0000005	HP:0034345	Mendelian inheritance	1	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0000005	HP:0034345	Mendelian inheritance	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000005	HP:0034345	Mendelian inheritance	1	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA
HP:0000005	HP:0034345	Mendelian inheritance	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0000005	HP:0034345	Mendelian inheritance	1	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB		50
HP:0000005	HP:0034345	Mendelian inheritance	1	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II		50
HP:0000005	HP:0034345	Mendelian inheritance	1	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV		50
HP:0000005	HP:0034345	Mendelian inheritance	1	GHR CL E G H	2690	4263	OMIM:604271	Growth hormone insensitivity, partial		98
HP:0000005	HP:0034345	Mendelian inheritance	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0000005	HP:0034345	Mendelian inheritance	1	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome		98
HP:0000005	HP:0034345	Mendelian inheritance	1	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4		44
HP:0000005	HP:0001426	Multifactorial inheritance	1	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY		4
HP:0000005	HP:0034345	Mendelian inheritance	1	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY		4
HP:0000005	HP:0034345	Mendelian inheritance	1	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0000005	HP:0034345	Mendelian inheritance	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000005	HP:0034345	Mendelian inheritance	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0000005	HP:0034345	Mendelian inheritance	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000005	HP:0034345	Mendelian inheritance	1	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15		40
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0000005	HP:0001426	Multifactorial inheritance	1	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA1 CL E G H	2697	4274	OMIM:186100	Syndactyly, type III		68
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA3 CL E G H	2700	4277	OMIM:601885	Cataract, zonular pulverulent 3		88
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11		39
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1		39
HP:0000005	HP:0034335	Inheritance modifier	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000005	HP:0003745	Sporadic	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA8 CL E G H	2703	4281	OMIM:116200	Cataract 1, multiple types		34
HP:0000005	HP:0034335	Inheritance modifier	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000005	HP:0034345	Mendelian inheritance	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000005	HP:0003745	Sporadic	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0000005	HP:0034335	Inheritance modifier	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3		199
HP:0000005	HP:0001426	Multifactorial inheritance	1	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B		74
HP:0000005	HP:0001426	Multifactorial inheritance	1	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A		74
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A		74
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B		56
HP:0000005	HP:0001426	Multifactorial inheritance	1	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0000005	HP:0034335	Inheritance modifier	1	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0000005	HP:0034345	Mendelian inheritance	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0000005	HP:0034345	Mendelian inheritance	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0000005	HP:0034345	Mendelian inheritance	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0000005	HP:0034345	Mendelian inheritance	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III		120
HP:0000005	HP:0034345	Mendelian inheritance	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0000005	HP:0034345	Mendelian inheritance	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0000005	HP:0034345	Mendelian inheritance	1	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11		6
HP:0000005	HP:0034345	Mendelian inheritance	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0000005	HP:0034345	Mendelian inheritance	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1		45
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI1 CL E G H	2735	4317	OMIM:174400	Polydactyly, preaxial I		1
HP:0000005	HP:0034335	Inheritance modifier	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0000005	HP:0034335	Inheritance modifier	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000005	HP:0003745	Sporadic	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI3 CL E G H	2737	4319	OMIM:174200	Polydactyly, postaxial, type A1		270
HP:0000005	HP:0034345	Mendelian inheritance	1	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV		270
HP:0000005	HP:0034345	Mendelian inheritance	1	GLIS2 CL E G H	84662	29450	OMIM:611498	NEPHRONOPHTHISIS 7; NPHP7		83
HP:0000005	HP:0034345	Mendelian inheritance	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0000005	HP:0034345	Mendelian inheritance	1	GLMN CL E G H	11146	14373	OMIM:138000	Glomuvenous malformations		37
HP:0000005	HP:0034345	Mendelian inheritance	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0000005	HP:0034345	Mendelian inheritance	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000005	HP:0034345	Mendelian inheritance	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2		46
HP:0000005	HP:0034345	Mendelian inheritance	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0000005	HP:0034345	Mendelian inheritance	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0000005	HP:0034345	Mendelian inheritance	1	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71
HP:0000005	HP:0034345	Mendelian inheritance	1	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0000005	HP:0034345	Mendelian inheritance	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0000005	HP:0034345	Mendelian inheritance	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0000005	HP:0034345	Mendelian inheritance	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0000005	HP:0003745	Sporadic	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000005	HP:0034345	Mendelian inheritance	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0000005	HP:0034345	Mendelian inheritance	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0000005	HP:0034345	Mendelian inheritance	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0000005	HP:0034345	Mendelian inheritance	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14		34
HP:0000005	HP:0034345	Mendelian inheritance	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0000005	HP:0034345	Mendelian inheritance	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0000005	HP:0034345	Mendelian inheritance	1	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2		16
HP:0000005	HP:0034345	Mendelian inheritance	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000005	HP:0001442	Somatic mosaicism	1	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial		4
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial		4
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25		13
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17		36
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements		36
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple		7
HP:0000005	HP:0003745	Sporadic	1	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.	7
HP:0000005	HP:0034335	Inheritance modifier	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0000005	HP:0003745	Sporadic	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0000005	HP:0001442	Somatic mosaicism	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive		101
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB		101
HP:0000005	HP:0003745	Sporadic	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM		101
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB		1
HP:0000005	HP:0003745	Sporadic	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3		39
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G		39
HP:0000005	HP:0034345	Mendelian inheritance	1	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4		19
HP:0000005	HP:0001426	Multifactorial inheritance	1	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0000005	HP:0034335	Inheritance modifier	1	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000005	HP:0034335	Inheritance modifier	1	GNB1 CL E G H	2782	4396	OMIM:614286	Myelodysplastic syndrome		12
HP:0000005	HP:0034335	Inheritance modifier	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000005	HP:0034345	Mendelian inheritance	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000005	HP:0034345	Mendelian inheritance	1	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0000005	HP:0001426	Multifactorial inheritance	1	GNB3 CL E G H	2784	4400	OMIM:145500	Hypertension, essential	.	5
HP:0000005	HP:0034345	Mendelian inheritance	1	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H		5
HP:0000005	HP:0034345	Mendelian inheritance	1	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia		7
HP:0000005	HP:0034345	Mendelian inheritance	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0000005	HP:0034345	Mendelian inheritance	1	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0000005	HP:0034345	Mendelian inheritance	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0000005	HP:0034345	Mendelian inheritance	1	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0000005	HP:0034345	Mendelian inheritance	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0000005	HP:0034345	Mendelian inheritance	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0000005	HP:0034345	Mendelian inheritance	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma		57
HP:0000005	HP:0034345	Mendelian inheritance	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0000005	HP:0034345	Mendelian inheritance	1	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0000005	HP:0034345	Mendelian inheritance	1	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0000005	HP:0034345	Mendelian inheritance	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000005	HP:0034345	Mendelian inheritance	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000005	HP:0034345	Mendelian inheritance	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0000005	HP:0034345	Mendelian inheritance	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000005	HP:0034345	Mendelian inheritance	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0000005	HP:0034345	Mendelian inheritance	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0000005	HP:0034345	Mendelian inheritance	1	GP1BA CL E G H	2811	4439	OMIM:258660	Nonarteritic anterior ischemic optic neuropathy, susceptibility to		23
HP:0000005	HP:0034345	Mendelian inheritance	1	GP1BA CL E G H	2811	4439	OMIM:177820	Pseudo-Von willebrand disease		23
HP:0000005	HP:0034345	Mendelian inheritance	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0000005	HP:0034345	Mendelian inheritance	1	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0000005	HP:0034345	Mendelian inheritance	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0000005	HP:0034345	Mendelian inheritance	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000005	HP:0034345	Mendelian inheritance	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000005	HP:0034335	Inheritance modifier	1	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1		73
HP:0000005	HP:0034345	Mendelian inheritance	1	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1		73
HP:0000005	HP:0034345	Mendelian inheritance	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000005	HP:0034335	Inheritance modifier	1	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1
HP:0000005	HP:0034345	Mendelian inheritance	1	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1
HP:0000005	HP:0034345	Mendelian inheritance	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0000005	HP:0034345	Mendelian inheritance	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0000005	HP:0034345	Mendelian inheritance	1	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0000005	HP:0034345	Mendelian inheritance	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0000005	HP:0034345	Mendelian inheritance	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR101 CL E G H	83550	14963	OMIM:300943	PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I		64
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked		64
HP:0000005	HP:0034335	Inheritance modifier	1	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E		124
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0000005	HP:0034345	Mendelian inheritance	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0000005	HP:0034345	Mendelian inheritance	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000005	HP:0034345	Mendelian inheritance	1	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114
HP:0000005	HP:0034345	Mendelian inheritance	1	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000005	HP:0034335	Inheritance modifier	1	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0000005	HP:0034345	Mendelian inheritance	1	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0000005	HP:0034345	Mendelian inheritance	1	GREM2 CL E G H	64388	17655	OMIM:617275	Tooth agenesis, selective, 9		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4		33
HP:0000005	HP:0034345	Mendelian inheritance	1	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28		33
HP:0000005	HP:0034345	Mendelian inheritance	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome		33
HP:0000005	HP:0034345	Mendelian inheritance	1	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GRHPR CL E G H	9380	4570	OMIM:260000	Hyperoxaluria, primary, type II		70
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000005	HP:0034345	Mendelian inheritance	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6		32
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant		108
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0000005	HP:0034335	Inheritance modifier	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0000005	HP:0034345	Mendelian inheritance	1	GRK1 CL E G H	6011	10013	OMIM:613411	OGUCHI DISEASE 2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0000005	HP:0034345	Mendelian inheritance	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0000005	HP:0034345	Mendelian inheritance	1	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B		63
HP:0000005	HP:0034345	Mendelian inheritance	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0000005	HP:0034345	Mendelian inheritance	1	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126
HP:0000005	HP:0034345	Mendelian inheritance	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0000005	HP:0034345	Mendelian inheritance	1	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25		36
HP:0000005	HP:0034345	Mendelian inheritance	1	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5		87
HP:0000005	HP:0034345	Mendelian inheritance	1	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type		53
HP:0000005	HP:0034345	Mendelian inheritance	1	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0000005	HP:0034345	Mendelian inheritance	1	GSS CL E G H	2937	4624	OMIM:231900	Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to		39
HP:0000005	HP:0034345	Mendelian inheritance	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0000005	HP:0034345	Mendelian inheritance	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000005	HP:0034345	Mendelian inheritance	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23		30
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3		24
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCA1B CL E G H	2979	4679	OMIM:613827	RETINITIS PIGMENTOSA 48; RP48		36
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1		124
HP:0000005	HP:0034335	Inheritance modifier	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0000005	HP:0034345	Mendelian inheritance	1	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0000005	HP:0034345	Mendelian inheritance	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0000005	HP:0034345	Mendelian inheritance	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0000005	HP:0034345	Mendelian inheritance	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0000005	HP:0034345	Mendelian inheritance	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0000005	HP:0034345	Mendelian inheritance	1	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle		52
HP:0000005	HP:0034345	Mendelian inheritance	1	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver		100
HP:0000005	HP:0034345	Mendelian inheritance	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000005	HP:0034345	Mendelian inheritance	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000005	HP:0034335	Inheritance modifier	1	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000005	HP:0034335	Inheritance modifier	1	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1
HP:0000005	HP:0034345	Mendelian inheritance	1	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1
HP:0000005	HP:0034345	Mendelian inheritance	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000005	HP:0003745	Sporadic	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000005	HP:0034345	Mendelian inheritance	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000005	HP:0034345	Mendelian inheritance	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000005	HP:0034345	Mendelian inheritance	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000005	HP:0034345	Mendelian inheritance	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000005	HP:0034345	Mendelian inheritance	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000005	HP:0034345	Mendelian inheritance	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0000005	HP:0034345	Mendelian inheritance	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0000005	HP:0034345	Mendelian inheritance	1	HABP2 CL E G H	3026	4798	OMIM:616535	Thyroid cancer, nonmedullary, 5		58
HP:0000005	HP:0034345	Mendelian inheritance	1	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0000005	HP:0034345	Mendelian inheritance	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0000005	HP:0034345	Mendelian inheritance	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0000005	HP:0034345	Mendelian inheritance	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4		41
HP:0000005	HP:0034345	Mendelian inheritance	1	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency		99
HP:0000005	HP:0034345	Mendelian inheritance	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0000005	HP:0034345	Mendelian inheritance	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0000005	HP:0034345	Mendelian inheritance	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0000005	HP:0034345	Mendelian inheritance	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0000005	HP:0034345	Mendelian inheritance	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000005	HP:0034345	Mendelian inheritance	1	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2		29
HP:0000005	HP:0034345	Mendelian inheritance	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0000005	HP:0034345	Mendelian inheritance	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0000005	HP:0034345	Mendelian inheritance	1	HBA1 CL E G H	3039	4823	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7		200
HP:0000005	HP:0034345	Mendelian inheritance	1	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias		200
HP:0000005	HP:0034345	Mendelian inheritance	1	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE		200
HP:0000005	HP:0034345	Mendelian inheritance	1	HBA2 CL E G H	3040	4824	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7		88
HP:0000005	HP:0034345	Mendelian inheritance	1	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias		88
HP:0000005	HP:0034345	Mendelian inheritance	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0000005	HP:0034345	Mendelian inheritance	1	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6		580
HP:0000005	HP:0034345	Mendelian inheritance	1	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1		580
HP:0000005	HP:0034345	Mendelian inheritance	1	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias		580
HP:0000005	HP:0034345	Mendelian inheritance	1	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type		580
HP:0000005	HP:0034345	Mendelian inheritance	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia		580
HP:0000005	HP:0034345	Mendelian inheritance	1	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1		35
HP:0000005	HP:0034345	Mendelian inheritance	1	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal		50
HP:0000005	HP:0034345	Mendelian inheritance	1	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1		50
HP:0000005	HP:0034345	Mendelian inheritance	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type		100
HP:0000005	HP:0034345	Mendelian inheritance	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0000005	HP:0034335	Inheritance modifier	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10		54
HP:0000005	HP:0034345	Mendelian inheritance	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10		54
HP:0000005	HP:0034345	Mendelian inheritance	1	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2		7
HP:0000005	HP:0034345	Mendelian inheritance	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18		185
HP:0000005	HP:0034345	Mendelian inheritance	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0000005	HP:0034345	Mendelian inheritance	1	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1		1
HP:0000005	HP:0034335	Inheritance modifier	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0000005	HP:0034345	Mendelian inheritance	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0000005	HP:0034345	Mendelian inheritance	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000005	HP:0034345	Mendelian inheritance	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000005	HP:0034345	Mendelian inheritance	1	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000005	HP:0034345	Mendelian inheritance	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0000005	HP:0034345	Mendelian inheritance	1	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1		82
HP:0000005	HP:0034345	Mendelian inheritance	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0000005	HP:0034345	Mendelian inheritance	1	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation		82
HP:0000005	HP:0034345	Mendelian inheritance	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000005	HP:0034345	Mendelian inheritance	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0000005	HP:0034345	Mendelian inheritance	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000005	HP:0003745	Sporadic	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0000005	HP:0034345	Mendelian inheritance	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0000005	HP:0034345	Mendelian inheritance	1	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia		21
HP:0000005	HP:0034345	Mendelian inheritance	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0000005	HP:0034345	Mendelian inheritance	1	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HFM1 CL E G H	164045	20193	OMIM:615724	Premature ovarian failure 9		6
HP:0000005	HP:0034345	Mendelian inheritance	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0000005	HP:0034345	Mendelian inheritance	1	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39		39
HP:0000005	HP:0034345	Mendelian inheritance	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0000005	HP:0034345	Mendelian inheritance	1	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73		86
HP:0000005	HP:0034345	Mendelian inheritance	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency		32
HP:0000005	HP:0034345	Mendelian inheritance	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000005	HP:0034345	Mendelian inheritance	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13		3
HP:0000005	HP:0034345	Mendelian inheritance	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0000005	HP:0034345	Mendelian inheritance	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000005	HP:0034345	Mendelian inheritance	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0000005	HP:0034345	Mendelian inheritance	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0000005	HP:0001426	Multifactorial inheritance	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0000005	HP:0001426	Multifactorial inheritance	1	HLA-C CL E G H	3107	4933	OMIM:177900	Psoriasis 1, susceptibility to	.	2
HP:0000005	HP:0001426	Multifactorial inheritance	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000005	HP:0034345	Mendelian inheritance	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0000005	HP:0001426	Multifactorial inheritance	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000005	HP:0034345	Mendelian inheritance	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0000005	HP:0034345	Mendelian inheritance	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0000005	HP:0001426	Multifactorial inheritance	1	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0000005	HP:0001426	Multifactorial inheritance	1	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.	2
HP:0000005	HP:0034345	Mendelian inheritance	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0000005	HP:0003745	Sporadic	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0000005	HP:0001426	Multifactorial inheritance	1	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to	.
HP:0000005	HP:0034345	Mendelian inheritance	1	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to
HP:0000005	HP:0034345	Mendelian inheritance	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency		148
HP:0000005	HP:0034345	Mendelian inheritance	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0000005	HP:0034345	Mendelian inheritance	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0000005	HP:0034345	Mendelian inheritance	1	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0000005	HP:0034345	Mendelian inheritance	1	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5		2
HP:0000005	HP:0034345	Mendelian inheritance	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13		2
HP:0000005	HP:0034345	Mendelian inheritance	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0000005	HP:0034345	Mendelian inheritance	1	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency		42
HP:0000005	HP:0034335	Inheritance modifier	1	HMMR CL E G H	3161	5012	OMIM:114480	Breast cancer
HP:0000005	HP:0034345	Mendelian inheritance	1	HMMR CL E G H	3161	5012	OMIM:114480	Breast cancer
HP:0000005	HP:0034345	Mendelian inheritance	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0000005	HP:0034345	Mendelian inheritance	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent		161
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial		161
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III		161
HP:0000005	HP:0003745	Sporadic	1	HNF1A CL E G H	6927	11621	OMIM:144700	Renal cell carcinoma, nonpapillary	.	161
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent		90
HP:0000005	HP:0003745	Sporadic	1	HNF1B CL E G H	6928	11630	OMIM:144700	Renal cell carcinoma, nonpapillary	.	90
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent		138
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0000005	HP:0034345	Mendelian inheritance	1	HNF4A CL E G H	3172	5024	OMIM:125850	Maturity-onset diabetes of the young, type 1		138
HP:0000005	HP:0001426	Multifactorial inheritance	1	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to	.	3
HP:0000005	HP:0034345	Mendelian inheritance	1	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to		3
HP:0000005	HP:0034345	Mendelian inheritance	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51		3
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2		5
HP:0000005	HP:0034335	Inheritance modifier	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000005	HP:0034345	Mendelian inheritance	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54		39
HP:0000005	HP:0034345	Mendelian inheritance	1	HOGA1 CL E G H	112817	25155	OMIM:613616	HYPEROXALURIA, PRIMARY, TYPE III; HP3		83
HP:0000005	HP:0034345	Mendelian inheritance	1	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68		1
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXD10 CL E G H	3236	5133	OMIM:192950	Vertical talus, congenital		33
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D		25
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E		25
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0000005	HP:0034345	Mendelian inheritance	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0000005	HP:0034345	Mendelian inheritance	1	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive		4
HP:0000005	HP:0034345	Mendelian inheritance	1	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA		23
HP:0000005	HP:0034345	Mendelian inheritance	1	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III		23
HP:0000005	HP:0034345	Mendelian inheritance	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000005	HP:0034345	Mendelian inheritance	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0000005	HP:0034345	Mendelian inheritance	1	HPGD CL E G H	3248	5154	OMIM:119900	DIGITAL CLUBBING, ISOLATED CONGENITAL		55
HP:0000005	HP:0034345	Mendelian inheritance	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0000005	HP:0034345	Mendelian inheritance	1	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related		76
HP:0000005	HP:0034345	Mendelian inheritance	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0000005	HP:0034345	Mendelian inheritance	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0000005	HP:0034345	Mendelian inheritance	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0000005	HP:0034345	Mendelian inheritance	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0000005	HP:0034345	Mendelian inheritance	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0000005	HP:0034345	Mendelian inheritance	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0000005	HP:0034345	Mendelian inheritance	1	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0000005	HP:0034345	Mendelian inheritance	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0000005	HP:0034345	Mendelian inheritance	1	HR CL E G H	55806	5172	OMIM:209500	Atrichia with papular lesions		106
HP:0000005	HP:0034335	Inheritance modifier	1	HRAS CL E G H	3265	5173	OMIM:109800	Bladder cancer		113
HP:0000005	HP:0034345	Mendelian inheritance	1	HRAS CL E G H	3265	5173	OMIM:109800	Bladder cancer		113
HP:0000005	HP:0034345	Mendelian inheritance	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000005	HP:0003745	Sporadic	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000005	HP:0001442	Somatic mosaicism	1	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic		113
HP:0000005	HP:0034335	Inheritance modifier	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0000005	HP:0001442	Somatic mosaicism	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0000005	HP:0003745	Sporadic	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0000005	HP:0034335	Inheritance modifier	1	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0000005	HP:0034345	Mendelian inheritance	1	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0000005	HP:0034345	Mendelian inheritance	1	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency		4
HP:0000005	HP:0034345	Mendelian inheritance	1	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0000005	HP:0034345	Mendelian inheritance	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000005	HP:0034345	Mendelian inheritance	1	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0000005	HP:0034345	Mendelian inheritance	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0000005	HP:0034345	Mendelian inheritance	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD17B3 CL E G H	3293	5212	OMIM:264300	Pseudohermaphroditism, male, with gynecomastia		31
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0000005	HP:0034345	Mendelian inheritance	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0000005	HP:0034345	Mendelian inheritance	1	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0000005	HP:0034345	Mendelian inheritance	1	HSF4 CL E G H	3299	5227	OMIM:116800	Cataract, lamellar		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPA9 CL E G H	3313	5244	OMIM:182170	ANEMIA, SIDEROBLASTIC, 4; SIDBA4		6
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB		47
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA		38
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4		46
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000005	HP:0034345	Mendelian inheritance	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000005	HP:0034345	Mendelian inheritance	1	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent		2
HP:0000005	HP:0001426	Multifactorial inheritance	1	HTR2A CL E G H	3356	5293	OMIM:103780	Alcohol dependence	.	4
HP:0000005	HP:0001426	Multifactorial inheritance	1	HTR2A CL E G H	3356	5293	OMIM:608516	Major depressive disorder		4
HP:0000005	HP:0034345	Mendelian inheritance	1	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA		4
HP:0000005	HP:0034345	Mendelian inheritance	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0000005	HP:0034345	Mendelian inheritance	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0000005	HP:0034345	Mendelian inheritance	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0000005	HP:0034345	Mendelian inheritance	1	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13		39
HP:0000005	HP:0034345	Mendelian inheritance	1	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease		12
HP:0000005	HP:0034345	Mendelian inheritance	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000005	HP:0034345	Mendelian inheritance	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0000005	HP:0034345	Mendelian inheritance	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0000005	HP:0034345	Mendelian inheritance	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0000005	HP:0034345	Mendelian inheritance	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000005	HP:0034345	Mendelian inheritance	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0000005	HP:0034345	Mendelian inheritance	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0000005	HP:0034345	Mendelian inheritance	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0000005	HP:0034345	Mendelian inheritance	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000005	HP:0034345	Mendelian inheritance	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0000005	HP:0034345	Mendelian inheritance	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0000005	HP:0034345	Mendelian inheritance	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0000005	HP:0034345	Mendelian inheritance	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000005	HP:0034335	Inheritance modifier	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1		15
HP:0000005	HP:0034345	Mendelian inheritance	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1		15
HP:0000005	HP:0034345	Mendelian inheritance	1	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0000005	HP:0034345	Mendelian inheritance	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000005	HP:0034345	Mendelian inheritance	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0000005	HP:0034345	Mendelian inheritance	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0000005	HP:0034345	Mendelian inheritance	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0000005	HP:0034345	Mendelian inheritance	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0000005	HP:0034345	Mendelian inheritance	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome		115
HP:0000005	HP:0034345	Mendelian inheritance	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0000005	HP:0034335	Inheritance modifier	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0000005	HP:0034345	Mendelian inheritance	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0000005	HP:0034345	Mendelian inheritance	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0000005	HP:0034345	Mendelian inheritance	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0000005	HP:0034345	Mendelian inheritance	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0000005	HP:0034345	Mendelian inheritance	1	IFNAR1 CL E G H	3454	5432	OMIM:619935
HP:0000005	HP:0034345	Mendelian inheritance	1	IFNAR2 CL E G H	3455	5433	OMIM:616669	Immunodeficiency 45		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0000005	HP:0034345	Mendelian inheritance	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0000005	HP:0034345	Mendelian inheritance	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0000005	HP:0034345	Mendelian inheritance	1	IFNGR1 CL E G H	3459	5439	OMIM:615978	Immunodeficiency 27B		60
HP:0000005	HP:0034345	Mendelian inheritance	1	IFNGR2 CL E G H	3460	5440	OMIM:614889	Immunodeficiency 28		38
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71		48
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly		48
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19		1
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT43 CL E G H	112752	29669	OMIM:617871	Retinitis pigmentosa 81		11
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2		65
HP:0000005	HP:0034345	Mendelian inheritance	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000005	HP:0034345	Mendelian inheritance	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency		91
HP:0000005	HP:0034345	Mendelian inheritance	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0000005	HP:0034345	Mendelian inheritance	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000005	HP:0034345	Mendelian inheritance	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000005	HP:0034345	Mendelian inheritance	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000005	HP:0003745	Sporadic	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000005	HP:0034335	Inheritance modifier	1	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1		9
HP:0000005	HP:0034345	Mendelian inheritance	1	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1		9
HP:0000005	HP:0034345	Mendelian inheritance	1	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0000005	HP:0034335	Inheritance modifier	1	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0000005	HP:0034345	Mendelian inheritance	1	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S		209
HP:0000005	HP:0034345	Mendelian inheritance	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0000005	HP:0034345	Mendelian inheritance	1	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency		5
HP:0000005	HP:0034345	Mendelian inheritance	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0000005	HP:0034345	Mendelian inheritance	1	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0000005	HP:0034345	Mendelian inheritance	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0000005	HP:0034345	Mendelian inheritance	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0000005	HP:0034345	Mendelian inheritance	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0000005	HP:0034345	Mendelian inheritance	1	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0000005	HP:0034345	Mendelian inheritance	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000005	HP:0034345	Mendelian inheritance	1	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0000005	HP:0034345	Mendelian inheritance	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0000005	HP:0034335	Inheritance modifier	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0000005	HP:0034345	Mendelian inheritance	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0000005	HP:0034345	Mendelian inheritance	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0000005	HP:0034345	Mendelian inheritance	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0000005	HP:0034345	Mendelian inheritance	1	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0000005	HP:0034345	Mendelian inheritance	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0000005	HP:0034345	Mendelian inheritance	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000005	HP:0034345	Mendelian inheritance	1	IL12B CL E G H	3593	5970	OMIM:614890	Immunodeficiency 29		31
HP:0000005	HP:0034345	Mendelian inheritance	1	IL12RB1 CL E G H	3594	5971	OMIM:614891	Immunodeficiency 30		46
HP:0000005	HP:0001426	Multifactorial inheritance	1	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to	.	2
HP:0000005	HP:0034345	Mendelian inheritance	1	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IL17F CL E G H	112744	16404	OMIM:613956	CANDIDIASIS, FAMILIAL, 6; CANDF6		14
HP:0000005	HP:0034345	Mendelian inheritance	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0000005	HP:0034345	Mendelian inheritance	1	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia		9
HP:0000005	HP:0034345	Mendelian inheritance	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000005	HP:0034335	Inheritance modifier	1	IL1B CL E G H	3553	5992	OMIM:613659	Gastric cancer, somatic		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000005	HP:0034335	Inheritance modifier	1	IL1RN CL E G H	3557	6000	OMIM:613659	Gastric cancer, somatic		40
HP:0000005	HP:0034345	Mendelian inheritance	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0000005	HP:0034345	Mendelian inheritance	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0000005	HP:0034345	Mendelian inheritance	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0000005	HP:0034345	Mendelian inheritance	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0000005	HP:0034345	Mendelian inheritance	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0000005	HP:0034345	Mendelian inheritance	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0000005	HP:0034345	Mendelian inheritance	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0000005	HP:0034345	Mendelian inheritance	1	IL31RA CL E G H	133396	18969	OMIM:613955	Amyloidosis, primary localized cutaneous, 2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0000005	HP:0034345	Mendelian inheritance	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0000005	HP:0034345	Mendelian inheritance	1	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic		3
HP:0000005	HP:0034335	Inheritance modifier	1	IL6 CL E G H	3569	6018	OMIM:108010	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent		2
HP:0000005	HP:0001426	Multifactorial inheritance	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0000005	HP:0034345	Mendelian inheritance	1	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0000005	HP:0034345	Mendelian inheritance	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0000005	HP:0034345	Mendelian inheritance	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000005	HP:0001442	Somatic mosaicism	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000005	HP:0034345	Mendelian inheritance	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000005	HP:0034345	Mendelian inheritance	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0000005	HP:0034345	Mendelian inheritance	1	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42		42
HP:0000005	HP:0034345	Mendelian inheritance	1	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59		1
HP:0000005	HP:0034345	Mendelian inheritance	1	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11		52
HP:0000005	HP:0034345	Mendelian inheritance	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0000005	HP:0034345	Mendelian inheritance	1	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0000005	HP:0034345	Mendelian inheritance	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0000005	HP:0034335	Inheritance modifier	1	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0000005	HP:0034345	Mendelian inheritance	1	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0000005	HP:0034345	Mendelian inheritance	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E		135
HP:0000005	HP:0034345	Mendelian inheritance	1	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0000005	HP:0034345	Mendelian inheritance	1	ING1 CL E G H	3621	6062	OMIM:275355	Squamous cell carcinoma, head and neck		3
HP:0000005	HP:0034345	Mendelian inheritance	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000005	HP:0034345	Mendelian inheritance	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome		111
HP:0000005	HP:0034345	Mendelian inheritance	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0000005	HP:0034345	Mendelian inheritance	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000005	HP:0034345	Mendelian inheritance	1	INS CL E G H	3630	6081	OMIM:125852	Diabetes mellitus, insulin-dependent, 2		62
HP:0000005	HP:0034345	Mendelian inheritance	1	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0000005	HP:0034345	Mendelian inheritance	1	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia		62
HP:0000005	HP:0034345	Mendelian inheritance	1	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10		62
HP:0000005	HP:0034345	Mendelian inheritance	1	INSL3 CL E G H	3640	6086	OMIM:219050	Cryptorchidism, unilateral or bilateral		5
HP:0000005	HP:0034345	Mendelian inheritance	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0000005	HP:0034345	Mendelian inheritance	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0000005	HP:0034345	Mendelian inheritance	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0000005	HP:0034345	Mendelian inheritance	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000005	HP:0034345	Mendelian inheritance	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000005	HP:0034345	Mendelian inheritance	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000005	HP:0034345	Mendelian inheritance	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0000005	HP:0034345	Mendelian inheritance	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000005	HP:0003745	Sporadic	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5		61
HP:0000005	HP:0034345	Mendelian inheritance	1	IQCE CL E G H	23288	29171	OMIM:617642	Polydactyly, postaxial, type A7		1
HP:0000005	HP:0034345	Mendelian inheritance	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000005	HP:0034345	Mendelian inheritance	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0000005	HP:0034345	Mendelian inheritance	1	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0000005	HP:0034345	Mendelian inheritance	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000005	HP:0034335	Inheritance modifier	1	IRF1 CL E G H	3659	6116	OMIM:613659	Gastric cancer, somatic		2
HP:0000005	HP:0034335	Inheritance modifier	1	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF3 CL E G H	3661	6118	OMIM:616532	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7		1
HP:0000005	HP:0001426	Multifactorial inheritance	1	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to		99
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to		99
HP:0000005	HP:0003745	Sporadic	1	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to	.	99
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF7 CL E G H	3665	6122	OMIM:616345	Immunodeficiency 39		2
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A		5
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0000005	HP:0034345	Mendelian inheritance	1	IRF9 CL E G H	10379	6131	OMIM:618648	IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0000005	HP:0034345	Mendelian inheritance	1	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent		5
HP:0000005	HP:0034345	Mendelian inheritance	1	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0000005	HP:0034345	Mendelian inheritance	1	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0000005	HP:0034345	Mendelian inheritance	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4		7
HP:0000005	HP:0034345	Mendelian inheritance	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ISG15 CL E G H	9636	4053	OMIM:616126	Immunodeficiency 38 with basal ganglia calcification		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000005	HP:0034345	Mendelian inheritance	1	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0000005	HP:0034345	Mendelian inheritance	1	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0000005	HP:0034345	Mendelian inheritance	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15		177
HP:0000005	HP:0034345	Mendelian inheritance	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0000005	HP:0034345	Mendelian inheritance	1	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands		1
HP:0000005	HP:0034345	Mendelian inheritance	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia		105
HP:0000005	HP:0034345	Mendelian inheritance	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0000005	HP:0034345	Mendelian inheritance	1	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4		130
HP:0000005	HP:0034335	Inheritance modifier	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000005	HP:0034345	Mendelian inheritance	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000005	HP:0034345	Mendelian inheritance	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0000005	HP:0034345	Mendelian inheritance	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0000005	HP:0034345	Mendelian inheritance	1	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot		257
HP:0000005	HP:0034345	Mendelian inheritance	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0000005	HP:0034345	Mendelian inheritance	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0000005	HP:0034345	Mendelian inheritance	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0000005	HP:0034345	Mendelian inheritance	1	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome		57
HP:0000005	HP:0034345	Mendelian inheritance	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1		57
HP:0000005	HP:0034335	Inheritance modifier	1	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0000005	HP:0034345	Mendelian inheritance	1	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0000005	HP:0034335	Inheritance modifier	1	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0000005	HP:0034335	Inheritance modifier	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0000005	HP:0034345	Mendelian inheritance	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0000005	HP:0003745	Sporadic	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0000005	HP:0034335	Inheritance modifier	1	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0000005	HP:0034345	Mendelian inheritance	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000005	HP:0034345	Mendelian inheritance	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0000005	HP:0034345	Mendelian inheritance	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0000005	HP:0034345	Mendelian inheritance	1	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E		111
HP:0000005	HP:0034345	Mendelian inheritance	1	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17		111
HP:0000005	HP:0034345	Mendelian inheritance	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12		222
HP:0000005	HP:0034345	Mendelian inheritance	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0000005	HP:0034335	Inheritance modifier	1	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0000005	HP:0034345	Mendelian inheritance	1	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0000005	HP:0034335	Inheritance modifier	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000005	HP:0034345	Mendelian inheritance	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000005	HP:0034345	Mendelian inheritance	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0000005	HP:0034345	Mendelian inheritance	1	KARS1 CL E G H	3735	6215	OMIM:613916	Deafness, autosomal recessive 89
HP:0000005	HP:0034345	Mendelian inheritance	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000005	HP:0034345	Mendelian inheritance	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000005	HP:0034345	Mendelian inheritance	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000005	HP:0034345	Mendelian inheritance	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0000005	HP:0034345	Mendelian inheritance	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0000005	HP:0034345	Mendelian inheritance	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000005	HP:0034345	Mendelian inheritance	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000005	HP:0034345	Mendelian inheritance	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000005	HP:0034345	Mendelian inheritance	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1		145
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32		13
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7		6
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0000005	HP:0034345	Mendelian inheritance	1	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9		35
HP:0000005	HP:0034345	Mendelian inheritance	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19		35
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2		148
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6		43
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNE3 CL E G H	10008	6243	OMIM:613119	BRUGADA SYNDROME 6; BRGDA6		73
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct		121
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome		121
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent		127
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2		127
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13		127
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16		42
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9		193
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ2 CL E G H	3759	6263	OMIM:609622	SHORT QT SYNDROME 3; SQT3		193
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III		128
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNK18 CL E G H	338567	19439	OMIM:613656	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures		114
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16		114
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy		114
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNMB1 CL E G H	3779	6285	OMIM:608622	HYPERTENSION, DIASTOLIC, RESISTANCE TO		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1		730
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2		730
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7		528
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1		528
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ3 CL E G H	3786	6297	OMIM:121201	Epilepsy, benign neonatal, 2		302
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2		76
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5		321
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14		321
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B		73
HP:0000005	HP:0034345	Mendelian inheritance	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000005	HP:0034345	Mendelian inheritance	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0000005	HP:0034345	Mendelian inheritance	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0000005	HP:0034345	Mendelian inheritance	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000005	HP:0034345	Mendelian inheritance	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		9
HP:0000005	HP:0034345	Mendelian inheritance	1	KDR CL E G H	3791	6307	OMIM:602089	Hemangioma, capillary infantile		40
HP:0000005	HP:0034345	Mendelian inheritance	1	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0000005	HP:0034345	Mendelian inheritance	1	KHDC3L CL E G H	154288	33699	OMIM:614293	HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23		24
HP:0000005	HP:0034345	Mendelian inheritance	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0000005	HP:0034345	Mendelian inheritance	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KIAA0825 CL E G H	285600	28532	OMIM:618498	Polydactyly, postaxial, type A10
HP:0000005	HP:0034345	Mendelian inheritance	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000005	HP:0034345	Mendelian inheritance	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG		4
HP:0000005	HP:0034335	Inheritance modifier	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive		9
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9		276
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0000005	HP:0034335	Inheritance modifier	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to		202
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to		202
HP:0000005	HP:0003745	Sporadic	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1		93
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3		15
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100		5
HP:0000005	HP:0034335	Inheritance modifier	1	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25		93
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25		93
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal		93
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0000005	HP:0034345	Mendelian inheritance	1	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2		167
HP:0000005	HP:0034345	Mendelian inheritance	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000005	HP:0034345	Mendelian inheritance	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0000005	HP:0034345	Mendelian inheritance	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central		14
HP:0000005	HP:0034345	Mendelian inheritance	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor		327
HP:0000005	HP:0003745	Sporadic	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0000005	HP:0034335	Inheritance modifier	1	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0000005	HP:0034345	Mendelian inheritance	1	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0000005	HP:0034345	Mendelian inheritance	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0000005	HP:0034345	Mendelian inheritance	1	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait		327
HP:0000005	HP:0034335	Inheritance modifier	1	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic		327
HP:0000005	HP:0003745	Sporadic	1	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0000005	HP:0034345	Mendelian inheritance	1	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0000005	HP:0034345	Mendelian inheritance	1	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69		9
HP:0000005	HP:0034345	Mendelian inheritance	1	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0000005	HP:0034345	Mendelian inheritance	1	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0000005	HP:0034345	Mendelian inheritance	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000005	HP:0034345	Mendelian inheritance	1	KLF1 CL E G H	10661	6345	OMIM:111150	BLOOD GROUP--LUTHERAN INHIBITOR; INLU		42
HP:0000005	HP:0034345	Mendelian inheritance	1	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7		78
HP:0000005	HP:0034335	Inheritance modifier	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000005	HP:0034335	Inheritance modifier	1	KLF6 CL E G H	1316	2235	OMIM:613659	Gastric cancer, somatic		18
HP:0000005	HP:0034335	Inheritance modifier	1	KLF6 CL E G H	1316	2235	OMIM:176807	Prostate cancer		18
HP:0000005	HP:0034345	Mendelian inheritance	1	KLF6 CL E G H	1316	2235	OMIM:176807	Prostate cancer		18
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL10 CL E G H	317719	18829	OMIM:615081	SPERMATOGENIC FAILURE 11; SPGF11		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID		118
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9		13
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3		42
HP:0000005	HP:0034345	Mendelian inheritance	1	KLHL7 CL E G H	55975	15646	OMIM:612943	Retinitis pigmentosa 42		42
HP:0000005	HP:0034345	Mendelian inheritance	1	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1		6
HP:0000005	HP:0034345	Mendelian inheritance	1	KLKB1 CL E G H	3818	6371	OMIM:612423	PREKALLIKREIN DEFICIENCY		8
HP:0000005	HP:0034345	Mendelian inheritance	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0000005	HP:0034345	Mendelian inheritance	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000005	HP:0034335	Inheritance modifier	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0000005	HP:0034345	Mendelian inheritance	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0000005	HP:0034335	Inheritance modifier	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0000005	HP:0034345	Mendelian inheritance	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0000005	HP:0034345	Mendelian inheritance	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000005	HP:0034345	Mendelian inheritance	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0000005	HP:0034345	Mendelian inheritance	1	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0000005	HP:0034345	Mendelian inheritance	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive		112
HP:0000005	HP:0034345	Mendelian inheritance	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:108010	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:109800	Bladder cancer		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:109800	Bladder cancer		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:114480	Breast cancer		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:114480	Breast cancer		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:613659	Gastric cancer, somatic		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer		196
HP:0000005	HP:0034335	Inheritance modifier	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0000005	HP:0034345	Mendelian inheritance	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0000005	HP:0001442	Somatic mosaicism	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0000005	HP:0003745	Sporadic	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0000005	HP:0034345	Mendelian inheritance	1	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type		1
HP:0000005	HP:0034335	Inheritance modifier	1	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1		92
HP:0000005	HP:0034345	Mendelian inheritance	1	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1		92
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis		100
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT1 CL E G H	3848	6412	OMIM:146590	Ichthyosis hystrix, Curth-Macklin type		100
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis		45
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT10 CL E G H	3858	6413	OMIM:146600	Ichthyosis hystrix gravior		45
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis		45
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1		22
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2		46
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis		110
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT14 CL E G H	3861	6416	OMIM:601001	Epidermolysis bullosa simplex, autosomal recessive 1		110
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT14 CL E G H	3861	6416	OMIM:131800	Epidermolysis bullosa simplex, Weber-Cockayne type		110
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT17 CL E G H	3872	6427	OMIM:184500	Steatocystoma multiplex		23
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT2 CL E G H	3849	6439	OMIM:146800	Ichthyosis, Bullous type		67
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT4 CL E G H	3851	6441	OMIM:193900	White sponge nevus 1		64
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:179850	Dowling-Degos disease		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:619588	EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13		1
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3		5
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant		5
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5		65
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX		65
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type		2
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX		10
HP:0000005	HP:0034345	Mendelian inheritance	1	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0000005	HP:0034345	Mendelian inheritance	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0000005	HP:0034345	Mendelian inheritance	1	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA		5
HP:0000005	HP:0034345	Mendelian inheritance	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0000005	HP:0034345	Mendelian inheritance	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0000005	HP:0034345	Mendelian inheritance	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome		134
HP:0000005	HP:0034345	Mendelian inheritance	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0000005	HP:0034345	Mendelian inheritance	1	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA3 CL E G H	3909	6483	OMIM:619783	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE; JEB2A		116
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA5 CL E G H	3911	6485	OMIM:620049			5
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities		92
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMC2 CL E G H	3918	6493	OMIM:619785	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A		135
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital		114
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease		211
HP:0000005	HP:0034345	Mendelian inheritance	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000005	HP:0034345	Mendelian inheritance	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0000005	HP:0034345	Mendelian inheritance	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0000005	HP:0034345	Mendelian inheritance	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome		16
HP:0000005	HP:0034345	Mendelian inheritance	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0000005	HP:0034345	Mendelian inheritance	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia		54
HP:0000005	HP:0034345	Mendelian inheritance	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000005	HP:0034345	Mendelian inheritance	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS		8
HP:0000005	HP:0034345	Mendelian inheritance	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0000005	HP:0034345	Mendelian inheritance	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0000005	HP:0034345	Mendelian inheritance	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0000005	HP:0034345	Mendelian inheritance	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0000005	HP:0034345	Mendelian inheritance	1	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0000005	HP:0034345	Mendelian inheritance	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5		70
HP:0000005	HP:0034345	Mendelian inheritance	1	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0000005	HP:0034345	Mendelian inheritance	1	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0000005	HP:0034345	Mendelian inheritance	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0000005	HP:0034345	Mendelian inheritance	1	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital		72
HP:0000005	HP:0034345	Mendelian inheritance	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0000005	HP:0034345	Mendelian inheritance	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4		286
HP:0000005	HP:0034345	Mendelian inheritance	1	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI		35
HP:0000005	HP:0034345	Mendelian inheritance	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0000005	HP:0034345	Mendelian inheritance	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0000005	HP:0034345	Mendelian inheritance	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0000005	HP:0034345	Mendelian inheritance	1	LEMD2 CL E G H	221496	21244	OMIM:212500	CATARACT 46, JUVENILE-ONSET; CTRCT46		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome		68
HP:0000005	HP:0034345	Mendelian inheritance	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0000005	HP:0034345	Mendelian inheritance	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0000005	HP:0034345	Mendelian inheritance	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000005	HP:0034345	Mendelian inheritance	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000005	HP:0003745	Sporadic	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0000005	HP:0034345	Mendelian inheritance	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0000005	HP:0034345	Mendelian inheritance	1	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0000005	HP:0034345	Mendelian inheritance	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000005	HP:0034345	Mendelian inheritance	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0000005	HP:0034345	Mendelian inheritance	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0000005	HP:0034345	Mendelian inheritance	1	LHCGR CL E G H	3973	6585	OMIM:238320	Hypergonadotropic hypogonadism		67
HP:0000005	HP:0034335	Inheritance modifier	1	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0000005	HP:0034345	Mendelian inheritance	1	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67		93
HP:0000005	HP:0034345	Mendelian inheritance	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism		51
HP:0000005	HP:0034345	Mendelian inheritance	1	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4		43
HP:0000005	HP:0034345	Mendelian inheritance	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures		31
HP:0000005	HP:0034345	Mendelian inheritance	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000005	HP:0034345	Mendelian inheritance	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0000005	HP:0034345	Mendelian inheritance	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0000005	HP:0034335	Inheritance modifier	1	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0000005	HP:0034345	Mendelian inheritance	1	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types		16
HP:0000005	HP:0034345	Mendelian inheritance	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0000005	HP:0034345	Mendelian inheritance	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0000005	HP:0034345	Mendelian inheritance	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27		25
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent		35
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0000005	HP:0034345	Mendelian inheritance	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0000005	HP:0034345	Mendelian inheritance	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0000005	HP:0034345	Mendelian inheritance	1	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0000005	HP:0034345	Mendelian inheritance	1	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0000005	HP:0034345	Mendelian inheritance	1	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0000005	HP:0034345	Mendelian inheritance	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0000005	HP:0034345	Mendelian inheritance	1	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0000005	HP:0034345	Mendelian inheritance	1	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV		106
HP:0000005	HP:0034345	Mendelian inheritance	1	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0000005	HP:0034345	Mendelian inheritance	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0000005	HP:0034345	Mendelian inheritance	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000005	HP:0034345	Mendelian inheritance	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9		11
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0000005	HP:0003745	Sporadic	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0000005	HP:0034345	Mendelian inheritance	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0000005	HP:0034345	Mendelian inheritance	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0000005	HP:0034345	Mendelian inheritance	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0000005	HP:0034345	Mendelian inheritance	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10		11
HP:0000005	HP:0034345	Mendelian inheritance	1	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7
HP:0000005	HP:0034345	Mendelian inheritance	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0000005	HP:0034345	Mendelian inheritance	1	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0000005	HP:0034345	Mendelian inheritance	1	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0000005	HP:0034345	Mendelian inheritance	1	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000005	HP:0034345	Mendelian inheritance	1	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000005	HP:0034345	Mendelian inheritance	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	LORICRIN CL E G H	4014	6663	OMIM:604117	Vohwinkel syndrome, variant form
HP:0000005	HP:0034345	Mendelian inheritance	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10		6
HP:0000005	HP:0034345	Mendelian inheritance	1	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77		278
HP:0000005	HP:0034345	Mendelian inheritance	1	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome		3
HP:0000005	HP:0034345	Mendelian inheritance	1	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28		4
HP:0000005	HP:0034345	Mendelian inheritance	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8		8
HP:0000005	HP:0034345	Mendelian inheritance	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0000005	HP:0034345	Mendelian inheritance	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0000005	HP:0034345	Mendelian inheritance	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0000005	HP:0034345	Mendelian inheritance	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0000005	HP:0034335	Inheritance modifier	1	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14		62
HP:0000005	HP:0034345	Mendelian inheritance	1	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa		62
HP:0000005	HP:0034345	Mendelian inheritance	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0000005	HP:0001426	Multifactorial inheritance	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000005	HP:0034345	Mendelian inheritance	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F		54
HP:0000005	HP:0034345	Mendelian inheritance	1	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V		13
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17		124
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2		124
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4		125
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal		125
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP5 CL E G H	4041	6697	OMIM:166710	OSTEOPOROSIS		125
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome		125
HP:0000005	HP:0034335	Inheritance modifier	1	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts		125
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts		125
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0000005	HP:0034345	Mendelian inheritance	1	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7		26
HP:0000005	HP:0034345	Mendelian inheritance	1	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive		4
HP:0000005	HP:0034345	Mendelian inheritance	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0000005	HP:0034345	Mendelian inheritance	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000005	HP:0034345	Mendelian inheritance	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000005	HP:0034345	Mendelian inheritance	1	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant		3
HP:0000005	HP:0034345	Mendelian inheritance	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia		1
HP:0000005	HP:0034335	Inheritance modifier	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0000005	HP:0034345	Mendelian inheritance	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0000005	HP:0034335	Inheritance modifier	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0000005	HP:0034345	Mendelian inheritance	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0000005	HP:0034345	Mendelian inheritance	1	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63		78
HP:0000005	HP:0034345	Mendelian inheritance	1	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000005	HP:0034345	Mendelian inheritance	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0000005	HP:0034345	Mendelian inheritance	1	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44		2
HP:0000005	HP:0034345	Mendelian inheritance	1	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14		2
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP2 CL E G H	4053	6715	OMIM:613086	Glaucoma 3, primary congenital, D		123
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP2 CL E G H	4053	6715	OMIM:600975	Glaucoma 3, primary infantile, B		123
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		123
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3		123
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature		12
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3		12
HP:0000005	HP:0034345	Mendelian inheritance	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0000005	HP:0034345	Mendelian inheritance	1	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0000005	HP:0034345	Mendelian inheritance	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0000005	HP:0034345	Mendelian inheritance	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000005	HP:0034345	Mendelian inheritance	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0000005	HP:0034345	Mendelian inheritance	1	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral		32
HP:0000005	HP:0034345	Mendelian inheritance	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0000005	HP:0034345	Mendelian inheritance	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000005	HP:0034345	Mendelian inheritance	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000005	HP:0034335	Inheritance modifier	1	LZTR1 CL E G H	8216	6742	OMIM:615670	Schwannomatosis 2		43
HP:0000005	HP:0034345	Mendelian inheritance	1	LZTR1 CL E G H	8216	6742	OMIM:615670	Schwannomatosis 2		43
HP:0000005	HP:0034335	Inheritance modifier	1	LZTS1 CL E G H	11178	13861	OMIM:133239	Esophageal cancer, somatic		2
HP:0000005	HP:0034345	Mendelian inheritance	1	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0000005	HP:0034345	Mendelian inheritance	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0000005	HP:0034335	Inheritance modifier	1	MAD1L1 CL E G H	8379	6762	OMIM:176807	Prostate cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MAD1L1 CL E G H	8379	6762	OMIM:176807	Prostate cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000005	HP:0034345	Mendelian inheritance	1	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0000005	HP:0034345	Mendelian inheritance	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0000005	HP:0034345	Mendelian inheritance	1	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness		63
HP:0000005	HP:0034345	Mendelian inheritance	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0000005	HP:0034345	Mendelian inheritance	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000005	HP:0003745	Sporadic	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0000005	HP:0034345	Mendelian inheritance	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0000005	HP:0034345	Mendelian inheritance	1	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15		59
HP:0000005	HP:0034345	Mendelian inheritance	1	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC		17
HP:0000005	HP:0034345	Mendelian inheritance	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0000005	HP:0034345	Mendelian inheritance	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0000005	HP:0034345	Mendelian inheritance	1	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000005	HP:0034345	Mendelian inheritance	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0000005	HP:0034345	Mendelian inheritance	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000005	HP:0034345	Mendelian inheritance	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0000005	HP:0034345	Mendelian inheritance	1	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0000005	HP:0003745	Sporadic	1	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated	.	134
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000005	HP:0034335	Inheritance modifier	1	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to
HP:0000005	HP:0034345	Mendelian inheritance	1	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to
HP:0000005	HP:0034335	Inheritance modifier	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0000005	HP:0003745	Sporadic	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain		140
HP:0000005	HP:0003745	Sporadic	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical		140
HP:0000005	HP:0034345	Mendelian inheritance	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0000005	HP:0034345	Mendelian inheritance	1	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3
HP:0000005	HP:0034345	Mendelian inheritance	1	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi
HP:0000005	HP:0034345	Mendelian inheritance	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0000005	HP:0034345	Mendelian inheritance	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0000005	HP:0034345	Mendelian inheritance	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000005	HP:0034345	Mendelian inheritance	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0000005	HP:0034345	Mendelian inheritance	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0000005	HP:0034345	Mendelian inheritance	1	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49		61
HP:0000005	HP:0034345	Mendelian inheritance	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0000005	HP:0034345	Mendelian inheritance	1	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0000005	HP:0034345	Mendelian inheritance	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY		82
HP:0000005	HP:0034345	Mendelian inheritance	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0000005	HP:0034345	Mendelian inheritance	1	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints		32
HP:0000005	HP:0034345	Mendelian inheritance	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0000005	HP:0034345	Mendelian inheritance	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0000005	HP:0034345	Mendelian inheritance	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0000005	HP:0034345	Mendelian inheritance	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0000005	HP:0034345	Mendelian inheritance	1	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000005	HP:0034345	Mendelian inheritance	1	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency		54
HP:0000005	HP:0034345	Mendelian inheritance	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0000005	HP:0034345	Mendelian inheritance	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0000005	HP:0034345	Mendelian inheritance	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0000005	HP:0034345	Mendelian inheritance	1	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX		22
HP:0000005	HP:0034345	Mendelian inheritance	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0000005	HP:0034345	Mendelian inheritance	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0000005	HP:0034345	Mendelian inheritance	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1		94
HP:0000005	HP:0034345	Mendelian inheritance	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20		54
HP:0000005	HP:0034335	Inheritance modifier	1	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0000005	HP:0034345	Mendelian inheritance	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0000005	HP:0034345	Mendelian inheritance	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0000005	HP:0034345	Mendelian inheritance	1	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0000005	HP:0034345	Mendelian inheritance	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0000005	HP:0034345	Mendelian inheritance	1	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1		155
HP:0000005	HP:0034345	Mendelian inheritance	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0000005	HP:0034345	Mendelian inheritance	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000005	HP:0034345	Mendelian inheritance	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3		950
HP:0000005	HP:0034345	Mendelian inheritance	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations		950
HP:0000005	HP:0034345	Mendelian inheritance	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000005	HP:0034345	Mendelian inheritance	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000005	HP:0034345	Mendelian inheritance	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0000005	HP:0034345	Mendelian inheritance	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000005	HP:0034345	Mendelian inheritance	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000005	HP:0034345	Mendelian inheritance	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000005	HP:0034345	Mendelian inheritance	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000005	HP:0034345	Mendelian inheritance	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000005	HP:0034345	Mendelian inheritance	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000005	HP:0034345	Mendelian inheritance	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy		23
HP:0000005	HP:0034345	Mendelian inheritance	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0000005	HP:0034345	Mendelian inheritance	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000005	HP:0034345	Mendelian inheritance	1	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		43
HP:0000005	HP:0034345	Mendelian inheritance	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000005	HP:0034345	Mendelian inheritance	1	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0000005	HP:0003745	Sporadic	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0000005	HP:0034345	Mendelian inheritance	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0000005	HP:0034345	Mendelian inheritance	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0000005	HP:0034345	Mendelian inheritance	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0000005	HP:0034345	Mendelian inheritance	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0000005	HP:0034345	Mendelian inheritance	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000005	HP:0034345	Mendelian inheritance	1	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0000005	HP:0034345	Mendelian inheritance	1	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0000005	HP:0034345	Mendelian inheritance	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0000005	HP:0034345	Mendelian inheritance	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0000005	HP:0034345	Mendelian inheritance	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38		75
HP:0000005	HP:0034345	Mendelian inheritance	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000005	HP:0034345	Mendelian inheritance	1	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive		45
HP:0000005	HP:0034345	Mendelian inheritance	1	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0000005	HP:0034345	Mendelian inheritance	1	MET CL E G H	4233	7029	OMIM:620019			375
HP:0000005	HP:0034345	Mendelian inheritance	1	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97		375
HP:0000005	HP:0034335	Inheritance modifier	1	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma		375
HP:0000005	HP:0034345	Mendelian inheritance	1	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0000005	HP:0034335	Inheritance modifier	1	MET CL E G H	4233	7029	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1		375
HP:0000005	HP:0034345	Mendelian inheritance	1	MET CL E G H	4233	7029	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1		375
HP:0000005	HP:0034345	Mendelian inheritance	1	METTL13 CL E G H	51603	24248	OMIM:605429	DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF; DFNB26M
HP:0000005	HP:0034345	Mendelian inheritance	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0000005	HP:0034345	Mendelian inheritance	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000005	HP:0034345	Mendelian inheritance	1	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0000005	HP:0034345	Mendelian inheritance	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0000005	HP:0034345	Mendelian inheritance	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B		203
HP:0000005	HP:0034335	Inheritance modifier	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0000005	HP:0034345	Mendelian inheritance	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0000005	HP:0034345	Mendelian inheritance	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0000005	HP:0034345	Mendelian inheritance	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5		26
HP:0000005	HP:0034345	Mendelian inheritance	1	MFRP CL E G H	83552	18121	OMIM:609549	Nanophthalmos 2		26
HP:0000005	HP:0034345	Mendelian inheritance	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7		120
HP:0000005	HP:0034345	Mendelian inheritance	1	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement		120
HP:0000005	HP:0034345	Mendelian inheritance	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0000005	HP:0034345	Mendelian inheritance	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0000005	HP:0034345	Mendelian inheritance	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0000005	HP:0034345	Mendelian inheritance	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000005	HP:0034345	Mendelian inheritance	1	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7		28
HP:0000005	HP:0034345	Mendelian inheritance	1	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0000005	HP:0034345	Mendelian inheritance	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000005	HP:0034345	Mendelian inheritance	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0000005	HP:0034345	Mendelian inheritance	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000005	HP:0034345	Mendelian inheritance	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000005	HP:0034345	Mendelian inheritance	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0000005	HP:0034345	Mendelian inheritance	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000005	HP:0034335	Inheritance modifier	1	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	MIP CL E G H	4284	7103	OMIM:615274	Cataract 15, multiple types		40
HP:0000005	HP:0034345	Mendelian inheritance	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31		7
HP:0000005	HP:0034345	Mendelian inheritance	1	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0000005	HP:0034345	Mendelian inheritance	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0000005	HP:0034345	Mendelian inheritance	1	MITF CL E G H	4286	7105	OMIM:614456	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8		91
HP:0000005	HP:0034345	Mendelian inheritance	1	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome		91
HP:0000005	HP:0034345	Mendelian inheritance	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0000005	HP:0034345	Mendelian inheritance	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0000005	HP:0034345	Mendelian inheritance	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0000005	HP:0034345	Mendelian inheritance	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000005	HP:0003745	Sporadic	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0000005	HP:0034335	Inheritance modifier	1	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000005	HP:0003745	Sporadic	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13		127
HP:0000005	HP:0034345	Mendelian inheritance	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0000005	HP:0034345	Mendelian inheritance	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0000005	HP:0034345	Mendelian inheritance	1	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1		112
HP:0000005	HP:0034345	Mendelian inheritance	1	MLH1 CL E G H	4292	7127	OMIM:609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2		1819
HP:0000005	HP:0034345	Mendelian inheritance	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0000005	HP:0034345	Mendelian inheritance	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0000005	HP:0034335	Inheritance modifier	1	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer		131
HP:0000005	HP:0034345	Mendelian inheritance	1	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer		131
HP:0000005	HP:0034345	Mendelian inheritance	1	MLH3 CL E G H	27030	7128	OMIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7		131
HP:0000005	HP:0034335	Inheritance modifier	1	MLH3 CL E G H	27030	7128	OMIM:608089	Endometrial carcinoma, somatic		131
HP:0000005	HP:0034345	Mendelian inheritance	1	MLH3 CL E G H	27030	7128	OMIM:608089	Endometrial carcinoma, somatic		131
HP:0000005	HP:0034345	Mendelian inheritance	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0000005	HP:0034335	Inheritance modifier	1	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0000005	HP:0034345	Mendelian inheritance	1	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0000005	HP:0034345	Mendelian inheritance	1	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3		7
HP:0000005	HP:0034345	Mendelian inheritance	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0000005	HP:0034345	Mendelian inheritance	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0000005	HP:0034345	Mendelian inheritance	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0000005	HP:0034345	Mendelian inheritance	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0000005	HP:0034345	Mendelian inheritance	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0000005	HP:0034345	Mendelian inheritance	1	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T		18
HP:0000005	HP:0034345	Mendelian inheritance	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type		52
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2		37
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0000005	HP:0034345	Mendelian inheritance	1	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0000005	HP:0034345	Mendelian inheritance	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000005	HP:0034335	Inheritance modifier	1	MN1 CL E G H	4330	7180	OMIM:607174	Meningioma, familial, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MN1 CL E G H	4330	7180	OMIM:607174	Meningioma, familial, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000005	HP:0034335	Inheritance modifier	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0000005	HP:0034345	Mendelian inheritance	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0000005	HP:0034345	Mendelian inheritance	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0000005	HP:0034345	Mendelian inheritance	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0000005	HP:0034345	Mendelian inheritance	1	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0000005	HP:0034345	Mendelian inheritance	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0000005	HP:0034345	Mendelian inheritance	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0000005	HP:0034345	Mendelian inheritance	1	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0000005	HP:0034345	Mendelian inheritance	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency		6
HP:0000005	HP:0034345	Mendelian inheritance	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000005	HP:0034345	Mendelian inheritance	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0000005	HP:0034345	Mendelian inheritance	1	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000005	HP:0034345	Mendelian inheritance	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0000005	HP:0034345	Mendelian inheritance	1	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital		97
HP:0000005	HP:0034335	Inheritance modifier	1	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0000005	HP:0034335	Inheritance modifier	1	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0000005	HP:0034345	Mendelian inheritance	1	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0000005	HP:0034345	Mendelian inheritance	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000005	HP:0034345	Mendelian inheritance	1	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease		11
HP:0000005	HP:0034345	Mendelian inheritance	1	MPO CL E G H	4353	7218	OMIM:254600	Myeloperoxidase deficiency		11
HP:0000005	HP:0034345	Mendelian inheritance	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0000005	HP:0034345	Mendelian inheritance	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0000005	HP:0034345	Mendelian inheritance	1	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0000005	HP:0034345	Mendelian inheritance	1	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2		26
HP:0000005	HP:0034345	Mendelian inheritance	1	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000005	HP:0034345	Mendelian inheritance	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0000005	HP:0034345	Mendelian inheritance	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7		25
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34		12
HP:0000005	HP:0034345	Mendelian inheritance	1	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000005	HP:0034345	Mendelian inheritance	1	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH2 CL E G H	4436	7325	OMIM:120435	Lynch syndrome I		2162
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0000005	HP:0034335	Inheritance modifier	1	MSH3 CL E G H	4437	7326	OMIM:608089	Endometrial carcinoma, somatic		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH3 CL E G H	4437	7326	OMIM:608089	Endometrial carcinoma, somatic		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0000005	HP:0034335	Inheritance modifier	1	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0000005	HP:0034335	Inheritance modifier	1	MSH6 CL E G H	2956	7329	OMIM:608089	Endometrial carcinoma, somatic		2232
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH6 CL E G H	2956	7329	OMIM:608089	Endometrial carcinoma, somatic		2232
HP:0000005	HP:0034345	Mendelian inheritance	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0000005	HP:0034345	Mendelian inheritance	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000005	HP:0034345	Mendelian inheritance	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0000005	HP:0034345	Mendelian inheritance	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0000005	HP:0034335	Inheritance modifier	1	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus		13
HP:0000005	HP:0034345	Mendelian inheritance	1	MSRB3 CL E G H	253827	27375	OMIM:613718	Deafness, autosomal recessive 74		16
HP:0000005	HP:0034345	Mendelian inheritance	1	MST1R CL E G H	4486	7381	OMIM:617075	Nasopharyngeal carcinoma, susceptibility to, 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP		34
HP:0000005	HP:0034345	Mendelian inheritance	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0000005	HP:0034345	Mendelian inheritance	1	MSX1 CL E G H	4487	7391	OMIM:608874	OROFACIAL CLEFT 5; OFC5		12
HP:0000005	HP:0034345	Mendelian inheritance	1	MSX1 CL E G H	4487	7391	OMIM:106600	Tooth agenesis, selective, 1		12
HP:0000005	HP:0034345	Mendelian inheritance	1	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2		45
HP:0000005	HP:0034345	Mendelian inheritance	1	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina		45
HP:0000005	HP:0034345	Mendelian inheritance	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000005	HP:0034345	Mendelian inheritance	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0000005	HP:0034345	Mendelian inheritance	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15		29
HP:0000005	HP:0034345	Mendelian inheritance	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0000005	HP:0034345	Mendelian inheritance	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MTHFD1 CL E G H	4522	7432	OMIM:601634	Neural tube defects, folate-sensitive		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity		183
HP:0000005	HP:0034345	Mendelian inheritance	1	MTHFR CL E G H	4524	7436	OMIM:601634	Neural tube defects, folate-sensitive		183
HP:0000005	HP:0034345	Mendelian inheritance	1	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA		183
HP:0000005	HP:0034345	Mendelian inheritance	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0000005	HP:0034345	Mendelian inheritance	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0000005	HP:0034345	Mendelian inheritance	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0000005	HP:0034345	Mendelian inheritance	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0000005	HP:0034345	Mendelian inheritance	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0000005	HP:0034345	Mendelian inheritance	1	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10		39
HP:0000005	HP:0034335	Inheritance modifier	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0000005	HP:0003745	Sporadic	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0000005	HP:0034345	Mendelian inheritance	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0000005	HP:0034345	Mendelian inheritance	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0000005	HP:0034345	Mendelian inheritance	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0000005	HP:0034345	Mendelian inheritance	1	MTR CL E G H	4548	7468	OMIM:601634	Neural tube defects, folate-sensitive		217
HP:0000005	HP:0034345	Mendelian inheritance	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000005	HP:0034345	Mendelian inheritance	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0000005	HP:0034345	Mendelian inheritance	1	MTRR CL E G H	4552	7473	OMIM:601634	Neural tube defects, folate-sensitive		88
HP:0000005	HP:0034345	Mendelian inheritance	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000005	HP:0034345	Mendelian inheritance	1	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1		81
HP:0000005	HP:0034345	Mendelian inheritance	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0000005	HP:0034345	Mendelian inheritance	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000005	HP:0034345	Mendelian inheritance	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0000005	HP:0001426	Multifactorial inheritance	1	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0000005	HP:0034345	Mendelian inheritance	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency		72
HP:0000005	HP:0034345	Mendelian inheritance	1	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0000005	HP:0034335	Inheritance modifier	1	MUTYH CL E G H	4595	7527	OMIM:613659	Gastric cancer, somatic		592
HP:0000005	HP:0034345	Mendelian inheritance	1	MVD CL E G H	4597	7529	OMIM:614714	POROKERATOSIS 7, MULTIPLE TYPES; POROK7		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0000005	HP:0034345	Mendelian inheritance	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000005	HP:0034345	Mendelian inheritance	1	MVK CL E G H	4598	7530	OMIM:175900	Porokeratosis 3, multiple types		150
HP:0000005	HP:0034335	Inheritance modifier	1	MXI1 CL E G H	4601	7534	OMIM:176807	Prostate cancer		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MXI1 CL E G H	4601	7534	OMIM:176807	Prostate cancer		4
HP:0000005	HP:0034345	Mendelian inheritance	1	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B		66
HP:0000005	HP:0034345	Mendelian inheritance	1	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4		66
HP:0000005	HP:0034345	Mendelian inheritance	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0000005	HP:0034345	Mendelian inheritance	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0000005	HP:0034345	Mendelian inheritance	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0000005	HP:0034335	Inheritance modifier	1	MYC CL E G H	4609	7553	OMIM:113970	Burkitt lymphoma		11
HP:0000005	HP:0003745	Sporadic	1	MYC CL E G H	4609	7553	OMIM:113970	Burkitt lymphoma	.	11
HP:0000005	HP:0034345	Mendelian inheritance	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0000005	HP:0034335	Inheritance modifier	1	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0000005	HP:0034345	Mendelian inheritance	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0000005	HP:0034345	Mendelian inheritance	1	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4		227
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3		166
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee		452
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		452
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		1269
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7		93
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT		93
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17		297
HP:0000005	HP:0034345	Mendelian inheritance	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0000005	HP:0034345	Mendelian inheritance	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000005	HP:0034345	Mendelian inheritance	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0000005	HP:0034345	Mendelian inheritance	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0000005	HP:0034345	Mendelian inheritance	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0000005	HP:0034345	Mendelian inheritance	1	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0000005	HP:0034345	Mendelian inheritance	1	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7		326
HP:0000005	HP:0034345	Mendelian inheritance	1	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0000005	HP:0034345	Mendelian inheritance	1	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1		124
HP:0000005	HP:0034345	Mendelian inheritance	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3		387
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6		3
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30		168
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy		192
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22		179
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37		179
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11		516
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2		516
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I		516
HP:0000005	HP:0034345	Mendelian inheritance	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0000005	HP:0034345	Mendelian inheritance	1	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A		47
HP:0000005	HP:0034345	Mendelian inheritance	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0000005	HP:0034345	Mendelian inheritance	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000005	HP:0034345	Mendelian inheritance	1	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0000005	HP:0034345	Mendelian inheritance	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0000005	HP:0034345	Mendelian inheritance	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY		75
HP:0000005	HP:0034345	Mendelian inheritance	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0000005	HP:0034345	Mendelian inheritance	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0000005	HP:0034345	Mendelian inheritance	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0000005	HP:0034345	Mendelian inheritance	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization		2
HP:0000005	HP:0034345	Mendelian inheritance	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0000005	HP:0034345	Mendelian inheritance	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0000005	HP:0034345	Mendelian inheritance	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000005	HP:0034345	Mendelian inheritance	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000005	HP:0034345	Mendelian inheritance	1	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000005	HP:0034345	Mendelian inheritance	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0000005	HP:0034345	Mendelian inheritance	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000005	HP:0034345	Mendelian inheritance	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0000005	HP:0034345	Mendelian inheritance	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I		47
HP:0000005	HP:0034345	Mendelian inheritance	1	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V		72
HP:0000005	HP:0034345	Mendelian inheritance	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0000005	HP:0034345	Mendelian inheritance	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY		36
HP:0000005	HP:0034345	Mendelian inheritance	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0000005	HP:0034345	Mendelian inheritance	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0000005	HP:0034345	Mendelian inheritance	1	NANOS1 CL E G H	340719	23044	OMIM:615413	SPERMATOGENIC FAILURE 12; SPGF12		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0000005	HP:0034345	Mendelian inheritance	1	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0000005	HP:0034345	Mendelian inheritance	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0000005	HP:0034345	Mendelian inheritance	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000005	HP:0034345	Mendelian inheritance	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0000005	HP:0034345	Mendelian inheritance	1	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94		34
HP:0000005	HP:0034345	Mendelian inheritance	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000005	HP:0034345	Mendelian inheritance	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0000005	HP:0034345	Mendelian inheritance	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0000005	HP:0034345	Mendelian inheritance	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0000005	HP:0034345	Mendelian inheritance	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0000005	HP:0034345	Mendelian inheritance	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0000005	HP:0001426	Multifactorial inheritance	1	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0000005	HP:0034335	Inheritance modifier	1	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0000005	HP:0034345	Mendelian inheritance	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0000005	HP:0034345	Mendelian inheritance	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000005	HP:0034345	Mendelian inheritance	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0000005	HP:0034345	Mendelian inheritance	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0000005	HP:0034345	Mendelian inheritance	1	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive		37
HP:0000005	HP:0034345	Mendelian inheritance	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000005	HP:0034345	Mendelian inheritance	1	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial		5
HP:0000005	HP:0034335	Inheritance modifier	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034335	Inheritance modifier	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034335	Inheritance modifier	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034335	Inheritance modifier	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034335	Inheritance modifier	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034335	Inheritance modifier	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0000005	HP:0034345	Mendelian inheritance	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0000005	HP:0034345	Mendelian inheritance	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000005	HP:0034345	Mendelian inheritance	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0000005	HP:0034345	Mendelian inheritance	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0000005	HP:0034345	Mendelian inheritance	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0000005	HP:0034345	Mendelian inheritance	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12		7
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22		91
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13		19
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11		40
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10		26
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30		3
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25		9
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5		81
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6		65
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9		21
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3		38
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0000005	HP:0034345	Mendelian inheritance	1	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7		27
HP:0000005	HP:0034345	Mendelian inheritance	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0000005	HP:0034345	Mendelian inheritance	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0000005	HP:0034345	Mendelian inheritance	1	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0000005	HP:0034345	Mendelian inheritance	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7		30
HP:0000005	HP:0034345	Mendelian inheritance	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0000005	HP:0034345	Mendelian inheritance	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0000005	HP:0034345	Mendelian inheritance	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0000005	HP:0034345	Mendelian inheritance	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0000005	HP:0034345	Mendelian inheritance	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G		118
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0000005	HP:0001426	Multifactorial inheritance	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK2 CL E G H	4751	7745	OMIM:615565	Retinitis pigmentosa 67		5
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9		43
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0000005	HP:0034345	Mendelian inheritance	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000005	HP:0034335	Inheritance modifier	1	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC		9
HP:0000005	HP:0034345	Mendelian inheritance	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000005	HP:0034345	Mendelian inheritance	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0000005	HP:0034345	Mendelian inheritance	1	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent		32
HP:0000005	HP:0034345	Mendelian inheritance	1	NEUROD1 CL E G H	4760	7762	OMIM:606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6		32
HP:0000005	HP:0034345	Mendelian inheritance	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000005	HP:0034345	Mendelian inheritance	1	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital		5
HP:0000005	HP:0034345	Mendelian inheritance	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000005	HP:0034345	Mendelian inheritance	1	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0000005	HP:0034345	Mendelian inheritance	1	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20		167
HP:0000005	HP:0034335	Inheritance modifier	1	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia		1952
HP:0000005	HP:0034345	Mendelian inheritance	1	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia		1952
HP:0000005	HP:0034345	Mendelian inheritance	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0000005	HP:0034345	Mendelian inheritance	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0000005	HP:0034345	Mendelian inheritance	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000005	HP:0034345	Mendelian inheritance	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000005	HP:0034335	Inheritance modifier	1	NF2 CL E G H	4771	7773	OMIM:607174	Meningioma, familial, susceptibility to		220
HP:0000005	HP:0034345	Mendelian inheritance	1	NF2 CL E G H	4771	7773	OMIM:607174	Meningioma, familial, susceptibility to		220
HP:0000005	HP:0034345	Mendelian inheritance	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0000005	HP:0034335	Inheritance modifier	1	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS		220
HP:0000005	HP:0034345	Mendelian inheritance	1	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS		220
HP:0000005	HP:0034345	Mendelian inheritance	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0000005	HP:0034345	Mendelian inheritance	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0000005	HP:0034345	Mendelian inheritance	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0000005	HP:0003745	Sporadic	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000005	HP:0034345	Mendelian inheritance	1	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000005	HP:0003745	Sporadic	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000005	HP:0034345	Mendelian inheritance	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0000005	HP:0034345	Mendelian inheritance	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0000005	HP:0034345	Mendelian inheritance	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0000005	HP:0034345	Mendelian inheritance	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0000005	HP:0034345	Mendelian inheritance	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0000005	HP:0034345	Mendelian inheritance	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0000005	HP:0034345	Mendelian inheritance	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0000005	HP:0034345	Mendelian inheritance	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000005	HP:0034345	Mendelian inheritance	1	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
HP:0000005	HP:0034345	Mendelian inheritance	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0000005	HP:0034345	Mendelian inheritance	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora		77
HP:0000005	HP:0034345	Mendelian inheritance	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0000005	HP:0034345	Mendelian inheritance	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0000005	HP:0034345	Mendelian inheritance	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2		27
HP:0000005	HP:0034345	Mendelian inheritance	1	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes		88
HP:0000005	HP:0034345	Mendelian inheritance	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0000005	HP:0034345	Mendelian inheritance	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7		55
HP:0000005	HP:0034345	Mendelian inheritance	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0000005	HP:0034345	Mendelian inheritance	1	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0000005	HP:0034345	Mendelian inheritance	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000005	HP:0003745	Sporadic	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000005	HP:0034345	Mendelian inheritance	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary		51
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1		51
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations		90
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2		90
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5		90
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot		90
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3		90
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations		3
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0000005	HP:0034345	Mendelian inheritance	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0000005	HP:0034345	Mendelian inheritance	1	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20		4
HP:0000005	HP:0001426	Multifactorial inheritance	1	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0000005	HP:0034345	Mendelian inheritance	1	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1		24
HP:0000005	HP:0003745	Sporadic	1	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0000005	HP:0034345	Mendelian inheritance	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1		24
HP:0000005	HP:0034345	Mendelian inheritance	1	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2		57
HP:0000005	HP:0003745	Sporadic	1	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0000005	HP:0001426	Multifactorial inheritance	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.	57
HP:0000005	HP:0034345	Mendelian inheritance	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2		57
HP:0000005	HP:0003745	Sporadic	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.	57
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0000005	HP:0001426	Multifactorial inheritance	1	NLRP1 CL E G H	22861	14374	OMIM:606579	Vitiligo-Associated multiple autoimmune disease susceptibility 1		37
HP:0000005	HP:0034335	Inheritance modifier	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0000005	HP:0034345	Mendelian inheritance	1	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0000005	HP:0034345	Mendelian inheritance	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000005	HP:0034345	Mendelian inheritance	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0000005	HP:0034345	Mendelian inheritance	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		13
HP:0000005	HP:0034345	Mendelian inheritance	1	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5		40
HP:0000005	HP:0034345	Mendelian inheritance	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0000005	HP:0001426	Multifactorial inheritance	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0000005	HP:0001426	Multifactorial inheritance	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000005	HP:0034345	Mendelian inheritance	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000005	HP:0034345	Mendelian inheritance	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0000005	HP:0034345	Mendelian inheritance	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000005	HP:0034345	Mendelian inheritance	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0000005	HP:0034345	Mendelian inheritance	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0000005	HP:0034345	Mendelian inheritance	1	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0000005	HP:0034345	Mendelian inheritance	1	NOL3 CL E G H	8996	7869	OMIM:614937	Myoclonus, familial cortical		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000005	HP:0034345	Mendelian inheritance	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0000005	HP:0034345	Mendelian inheritance	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0000005	HP:0034345	Mendelian inheritance	1	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease		8
HP:0000005	HP:0001426	Multifactorial inheritance	1	NOS3 CL E G H	4846	7876	OMIM:145500	Hypertension, essential	.	8
HP:0000005	HP:0034345	Mendelian inheritance	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1		8
HP:0000005	HP:0001426	Multifactorial inheritance	1	NOS3 CL E G H	4846	7876	OMIM:601367	STROKE, ISCHEMIC		8
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1		452
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0000005	HP:0034345	Mendelian inheritance	1	NOTCH3 CL E G H	4854	7883	OMIM:615293	MYOFIBROMATOSIS, INFANTILE, 2; IMF2		144
HP:0000005	HP:0034345	Mendelian inheritance	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000005	HP:0034345	Mendelian inheritance	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000005	HP:0003745	Sporadic	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0000005	HP:0034345	Mendelian inheritance	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4		220
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4		220
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1		241
HP:0000005	HP:0034345	Mendelian inheritance	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2		69
HP:0000005	HP:0034335	Inheritance modifier	1	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0000005	HP:0034345	Mendelian inheritance	1	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0000005	HP:0034345	Mendelian inheritance	1	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6		13
HP:0000005	HP:0034345	Mendelian inheritance	1	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2		13
HP:0000005	HP:0034345	Mendelian inheritance	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0000005	HP:0034345	Mendelian inheritance	1	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type		53
HP:0000005	HP:0034345	Mendelian inheritance	1	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities		53
HP:0000005	HP:0034345	Mendelian inheritance	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000005	HP:0034335	Inheritance modifier	1	NPRL2 CL E G H	10641	24969	OMIM:617116	Epilepsy, familial focal, with variable foci 2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NPRL2 CL E G H	10641	24969	OMIM:617116	Epilepsy, familial focal, with variable foci 2		4
HP:0000005	HP:0034335	Inheritance modifier	1	NPRL3 CL E G H	8131	14124	OMIM:617118	Epilepsy, familial focal, with variable foci 3		7
HP:0000005	HP:0034345	Mendelian inheritance	1	NPRL3 CL E G H	8131	14124	OMIM:617118	Epilepsy, familial focal, with variable foci 3		7
HP:0000005	HP:0034335	Inheritance modifier	1	NQO2 CL E G H	4835	7856	OMIM:114480	Breast cancer
HP:0000005	HP:0034345	Mendelian inheritance	1	NQO2 CL E G H	4835	7856	OMIM:114480	Breast cancer
HP:0000005	HP:0034345	Mendelian inheritance	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0000005	HP:0034345	Mendelian inheritance	1	NR0B1 CL E G H	190	7960	OMIM:300018	Dosage-Sensitive sex reversal		48
HP:0000005	HP:0001426	Multifactorial inheritance	1	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0000005	HP:0034345	Mendelian inheritance	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome		58
HP:0000005	HP:0034345	Mendelian inheritance	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37		58
HP:0000005	HP:0034345	Mendelian inheritance	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000005	HP:0034345	Mendelian inheritance	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0000005	HP:0034345	Mendelian inheritance	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4		13
HP:0000005	HP:0034345	Mendelian inheritance	1	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized		79
HP:0000005	HP:0034345	Mendelian inheritance	1	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy		109
HP:0000005	HP:0034345	Mendelian inheritance	1	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant		109
HP:0000005	HP:0034345	Mendelian inheritance	1	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0000005	HP:0034345	Mendelian inheritance	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0000005	HP:0003745	Sporadic	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0000005	HP:0034335	Inheritance modifier	1	NR4A3 CL E G H	8013	7982	OMIM:612237	Chondrosarcoma, extraskeletal myxoid
HP:0000005	HP:0034335	Inheritance modifier	1	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0000005	HP:0034345	Mendelian inheritance	1	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0000005	HP:0034335	Inheritance modifier	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000005	HP:0034335	Inheritance modifier	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000005	HP:0034345	Mendelian inheritance	1	NR5A1 CL E G H	2516	7983	OMIM:613957	Spermatogenic failure 8		38
HP:0000005	HP:0034335	Inheritance modifier	1	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer		102
HP:0000005	HP:0034345	Mendelian inheritance	1	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer		102
HP:0000005	HP:0001442	Somatic mosaicism	1	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic		102
HP:0000005	HP:0034335	Inheritance modifier	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0000005	HP:0034335	Inheritance modifier	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0000005	HP:0003745	Sporadic	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.	102
HP:0000005	HP:0034345	Mendelian inheritance	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000005	HP:0034335	Inheritance modifier	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0000005	HP:0034345	Mendelian inheritance	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0000005	HP:0001442	Somatic mosaicism	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0000005	HP:0003745	Sporadic	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0000005	HP:0034335	Inheritance modifier	1	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0000005	HP:0034345	Mendelian inheritance	1	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0000005	HP:0034345	Mendelian inheritance	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000005	HP:0034335	Inheritance modifier	1	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27		30
HP:0000005	HP:0034345	Mendelian inheritance	1	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2		470
HP:0000005	HP:0034345	Mendelian inheritance	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000005	HP:0034345	Mendelian inheritance	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000005	HP:0034345	Mendelian inheritance	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000005	HP:0003745	Sporadic	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0000005	HP:0034345	Mendelian inheritance	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome		34
HP:0000005	HP:0034345	Mendelian inheritance	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0000005	HP:0034345	Mendelian inheritance	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0000005	HP:0034345	Mendelian inheritance	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0000005	HP:0034345	Mendelian inheritance	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia		6
HP:0000005	HP:0034345	Mendelian inheritance	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000005	HP:0034345	Mendelian inheritance	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0000005	HP:0034345	Mendelian inheritance	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000005	HP:0034345	Mendelian inheritance	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive		15
HP:0000005	HP:0034345	Mendelian inheritance	1	NT5C3A CL E G H	51251	17820	OMIM:266120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to		10
HP:0000005	HP:0034345	Mendelian inheritance	1	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries		3
HP:0000005	HP:0034345	Mendelian inheritance	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	NTN1 CL E G H	9423	8029	OMIM:618264	MIRROR MOVEMENTS 4; MRMV4
HP:0000005	HP:0034345	Mendelian inheritance	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000005	HP:0034345	Mendelian inheritance	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0000005	HP:0034345	Mendelian inheritance	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0000005	HP:0034345	Mendelian inheritance	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay		8
HP:0000005	HP:0034345	Mendelian inheritance	1	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0000005	HP:0034345	Mendelian inheritance	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0000005	HP:0034345	Mendelian inheritance	1	NUDT15 CL E G H	55270	23063	OMIM:616903	THIOPURINES, POOR METABOLISM OF, 2; THPM2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0000005	HP:0034335	Inheritance modifier	1	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP107 CL E G H	57122	29914	OMIM:618078	Ovarian dysgenesis 6		5
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9		1
HP:0000005	HP:0001426	Multifactorial inheritance	1	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0000005	HP:0034335	Inheritance modifier	1	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0000005	HP:0034335	Inheritance modifier	1	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile		7
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0000005	HP:0034345	Mendelian inheritance	1	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12		5
HP:0000005	HP:0034345	Mendelian inheritance	1	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0000005	HP:0034345	Mendelian inheritance	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000005	HP:0034345	Mendelian inheritance	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A		42
HP:0000005	HP:0034345	Mendelian inheritance	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0000005	HP:0034345	Mendelian inheritance	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000005	HP:0034345	Mendelian inheritance	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0000005	HP:0034345	Mendelian inheritance	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0000005	HP:0034345	Mendelian inheritance	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0000005	HP:0034345	Mendelian inheritance	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0000005	HP:0034345	Mendelian inheritance	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0000005	HP:0034345	Mendelian inheritance	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000005	HP:0034345	Mendelian inheritance	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0000005	HP:0034345	Mendelian inheritance	1	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0000005	HP:0034345	Mendelian inheritance	1	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4		6
HP:0000005	HP:0034345	Mendelian inheritance	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000005	HP:0034345	Mendelian inheritance	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0000005	HP:0034345	Mendelian inheritance	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0000005	HP:0034345	Mendelian inheritance	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0000005	HP:0034345	Mendelian inheritance	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000005	HP:0003745	Sporadic	1	OGG1 CL E G H	4968	8125	OMIM:144700	Renal cell carcinoma, nonpapillary	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000005	HP:0034345	Mendelian inheritance	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0000005	HP:0034345	Mendelian inheritance	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0000005	HP:0034335	Inheritance modifier	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0000005	HP:0034345	Mendelian inheritance	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0000005	HP:0034345	Mendelian inheritance	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0000005	HP:0034345	Mendelian inheritance	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III		163
HP:0000005	HP:0034345	Mendelian inheritance	1	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3		163
HP:0000005	HP:0034335	Inheritance modifier	1	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000005	HP:0034345	Mendelian inheritance	1	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency		5
HP:0000005	HP:0034345	Mendelian inheritance	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy		7
HP:0000005	HP:0034345	Mendelian inheritance	1	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0000005	HP:0034345	Mendelian inheritance	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy		5
HP:0000005	HP:0034345	Mendelian inheritance	1	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0000005	HP:0034345	Mendelian inheritance	1	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA		3
HP:0000005	HP:0034345	Mendelian inheritance	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0000005	HP:0034345	Mendelian inheritance	1	OPTN CL E G H	10133	17142	OMIM:137760	Glaucoma, primary open angle		62
HP:0000005	HP:0034345	Mendelian inheritance	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000005	HP:0034345	Mendelian inheritance	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0000005	HP:0034345	Mendelian inheritance	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000005	HP:0034345	Mendelian inheritance	1	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67		2
HP:0000005	HP:0034345	Mendelian inheritance	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000005	HP:0034345	Mendelian inheritance	1	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1		5
HP:0000005	HP:0034345	Mendelian inheritance	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0000005	HP:0034345	Mendelian inheritance	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0000005	HP:0034345	Mendelian inheritance	1	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22		58
HP:0000005	HP:0034345	Mendelian inheritance	1	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0000005	HP:0034345	Mendelian inheritance	1	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B		165
HP:0000005	HP:0034345	Mendelian inheritance	1	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B		105
HP:0000005	HP:0034345	Mendelian inheritance	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000005	HP:0034345	Mendelian inheritance	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000005	HP:0034335	Inheritance modifier	1	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0000005	HP:0034345	Mendelian inheritance	1	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0000005	HP:0034345	Mendelian inheritance	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0000005	HP:0034345	Mendelian inheritance	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5		41
HP:0000005	HP:0034345	Mendelian inheritance	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0000005	HP:0034345	Mendelian inheritance	1	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0000005	HP:0034345	Mendelian inheritance	1	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia		1
HP:0000005	HP:0034345	Mendelian inheritance	1	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41		23
HP:0000005	HP:0034345	Mendelian inheritance	1	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0000005	HP:0034345	Mendelian inheritance	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0000005	HP:0034345	Mendelian inheritance	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0000005	HP:0034345	Mendelian inheritance	1	P4HA2 CL E G H	8974	8547	OMIM:617238	Myopia 25, autosomal dominant		3
HP:0000005	HP:0034345	Mendelian inheritance	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000005	HP:0034345	Mendelian inheritance	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0000005	HP:0034345	Mendelian inheritance	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000005	HP:0034345	Mendelian inheritance	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0000005	HP:0034345	Mendelian inheritance	1	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PADI6 CL E G H	353238	20449	OMIM:617234	Preimplantation embryonic lethality 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0000005	HP:0003745	Sporadic	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0000005	HP:0034345	Mendelian inheritance	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000005	HP:0034345	Mendelian inheritance	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000005	HP:0034345	Mendelian inheritance	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000005	HP:0034345	Mendelian inheritance	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000005	HP:0034335	Inheritance modifier	1	PALB2 CL E G H	79728	26144	OMIM:114480	Breast cancer		1349
HP:0000005	HP:0034345	Mendelian inheritance	1	PALB2 CL E G H	79728	26144	OMIM:114480	Breast cancer		1349
HP:0000005	HP:0034345	Mendelian inheritance	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0000005	HP:0034345	Mendelian inheritance	1	PALLD CL E G H	23022	17068	OMIM:606856	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1		192
HP:0000005	HP:0034345	Mendelian inheritance	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0000005	HP:0034345	Mendelian inheritance	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0000005	HP:0034345	Mendelian inheritance	1	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000005	HP:0034345	Mendelian inheritance	1	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes		20
HP:0000005	HP:0034345	Mendelian inheritance	1	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0000005	HP:0034345	Mendelian inheritance	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0000005	HP:0034335	Inheritance modifier	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0000005	HP:0034345	Mendelian inheritance	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0000005	HP:0034345	Mendelian inheritance	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000005	HP:0034345	Mendelian inheritance	1	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000005	HP:0034335	Inheritance modifier	1	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7		39
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7		39
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome		59
HP:0000005	HP:0034335	Inheritance modifier	1	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar		59
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0000005	HP:0001426	Multifactorial inheritance	1	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.	55
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone		55
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent		55
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX4 CL E G H	5078	8618	OMIM:612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9		55
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:120430	Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:148190	Keratitis, hereditary		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0000005	HP:0034335	Inheritance modifier	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000005	HP:0034335	Inheritance modifier	1	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0000005	HP:0034345	Mendelian inheritance	1	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0000005	HP:0003745	Sporadic	1	PBRM1 CL E G H	55193	30064	OMIM:144700	Renal cell carcinoma, nonpapillary	.	10
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0000005	HP:0034345	Mendelian inheritance	1	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0000005	HP:0034345	Mendelian inheritance	1	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0000005	HP:0034345	Mendelian inheritance	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0000005	HP:0034345	Mendelian inheritance	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0000005	HP:0034345	Mendelian inheritance	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0000005	HP:0034345	Mendelian inheritance	1	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23		352
HP:0000005	HP:0034345	Mendelian inheritance	1	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID		352
HP:0000005	HP:0034345	Mendelian inheritance	1	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF		352
HP:0000005	HP:0034345	Mendelian inheritance	1	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9		225
HP:0000005	HP:0034345	Mendelian inheritance	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000005	HP:0034345	Mendelian inheritance	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0000005	HP:0034345	Mendelian inheritance	1	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000005	HP:0034345	Mendelian inheritance	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency		65
HP:0000005	HP:0003745	Sporadic	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0000005	HP:0034345	Mendelian inheritance	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0000005	HP:0034345	Mendelian inheritance	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000005	HP:0001426	Multifactorial inheritance	1	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	PDCD10 CL E G H	11235	8761	OMIM:603285	Cerebral cavernous malformations 3		21
HP:0000005	HP:0034345	Mendelian inheritance	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE1C CL E G H	5137	8776	OMIM:618140	Deafness, autosomal dominant 74		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE3A CL E G H	5139	8778	OMIM:112410	Hypertension and brachydactyly syndrome		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43		116
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6B CL E G H	5158	8786	OMIM:163500	Night blindness, congenital stationary, autosomal dominant 2		126
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40		126
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4		80
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa		18
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A		14
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3		75
HP:0000005	HP:0034345	Mendelian inheritance	1	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant		75
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5		9
HP:0000005	HP:0034335	Inheritance modifier	1	PDGFB CL E G H	5155	8800	OMIM:607174	Meningioma, familial, susceptibility to		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFB CL E G H	5155	8800	OMIM:607174	Meningioma, familial, susceptibility to		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRA CL E G H	5156	8803	OMIM:175510	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial		337
HP:0000005	HP:0034335	Inheritance modifier	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0000005	HP:0003745	Sporadic	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1		28
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type		28
HP:0000005	HP:0034335	Inheritance modifier	1	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer		2
HP:0000005	HP:0034335	Inheritance modifier	1	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0000005	HP:0034345	Mendelian inheritance	1	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0000005	HP:0034345	Mendelian inheritance	1	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD		37
HP:0000005	HP:0034345	Mendelian inheritance	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0000005	HP:0034345	Mendelian inheritance	1	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6		4
HP:0000005	HP:0034345	Mendelian inheritance	1	PDLIM4 CL E G H	8572	16501	OMIM:166710	OSTEOPOROSIS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0000005	HP:0034345	Mendelian inheritance	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0000005	HP:0034345	Mendelian inheritance	1	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3		54
HP:0000005	HP:0034345	Mendelian inheritance	1	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent		30
HP:0000005	HP:0034345	Mendelian inheritance	1	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4		30
HP:0000005	HP:0034345	Mendelian inheritance	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0000005	HP:0034345	Mendelian inheritance	1	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23		52
HP:0000005	HP:0034345	Mendelian inheritance	1	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57		40
HP:0000005	HP:0034345	Mendelian inheritance	1	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA		40
HP:0000005	HP:0034345	Mendelian inheritance	1	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC		40
HP:0000005	HP:0034345	Mendelian inheritance	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000005	HP:0034345	Mendelian inheritance	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0000005	HP:0034345	Mendelian inheritance	1	PER2 CL E G H	8864	8846	OMIM:604348	Advanced sleep phase syndrome, familial, 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PER3 CL E G H	8863	8847	OMIM:616882	Advanced sleep phase syndrome, familial, 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PERCC1 CL E G H	105371045	52293	OMIM:618662	DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11
HP:0000005	HP:0034345	Mendelian inheritance	1	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0000005	HP:0034345	Mendelian inheritance	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0000005	HP:0034345	Mendelian inheritance	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1		169
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B		169
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)		75
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)		65
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)		66
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B		66
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)		46
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B		106
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)		47
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2		98
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)		98
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B		72
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0000005	HP:0034345	Mendelian inheritance	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0000005	HP:0034345	Mendelian inheritance	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0000005	HP:0034345	Mendelian inheritance	1	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of		26
HP:0000005	HP:0034345	Mendelian inheritance	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000005	HP:0034345	Mendelian inheritance	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3		8
HP:0000005	HP:0034345	Mendelian inheritance	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4		20
HP:0000005	HP:0034345	Mendelian inheritance	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency		21
HP:0000005	HP:0034345	Mendelian inheritance	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0000005	HP:0034345	Mendelian inheritance	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0000005	HP:0034345	Mendelian inheritance	1	PGR CL E G H	5241	8910	OMIM:264080	Progesterone resistance
HP:0000005	HP:0034345	Mendelian inheritance	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0000005	HP:0034335	Inheritance modifier	1	PHB1 CL E G H	5245	8912	OMIM:114480	Breast cancer
HP:0000005	HP:0034345	Mendelian inheritance	1	PHB1 CL E G H	5245	8912	OMIM:114480	Breast cancer
HP:0000005	HP:0034345	Mendelian inheritance	1	PHC1 CL E G H	1911	3182	OMIM:615414	Microcephaly 11, primary, autosomal recessive		16
HP:0000005	HP:0034345	Mendelian inheritance	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0000005	HP:0034345	Mendelian inheritance	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0000005	HP:0034345	Mendelian inheritance	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0000005	HP:0034345	Mendelian inheritance	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency		37
HP:0000005	HP:0034345	Mendelian inheritance	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0000005	HP:0034345	Mendelian inheritance	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0000005	HP:0034345	Mendelian inheritance	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0000005	HP:0034345	Mendelian inheritance	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0000005	HP:0034345	Mendelian inheritance	1	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0000005	HP:0034345	Mendelian inheritance	1	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0000005	HP:0034345	Mendelian inheritance	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0000005	HP:0034345	Mendelian inheritance	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33		4
HP:0000005	HP:0034335	Inheritance modifier	1	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000005	HP:0034345	Mendelian inheritance	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema		36
HP:0000005	HP:0034345	Mendelian inheritance	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0000005	HP:0034345	Mendelian inheritance	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0000005	HP:0034345	Mendelian inheritance	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0000005	HP:0034345	Mendelian inheritance	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0000005	HP:0034345	Mendelian inheritance	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0000005	HP:0034335	Inheritance modifier	1	PIGA CL E G H	5277	8957	OMIM:300818	Paroxysmal nocturnal hemoglobinuria		46
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000005	HP:0034335	Inheritance modifier	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:114480	Breast cancer		162
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CA CL E G H	5290	8975	OMIM:114480	Breast cancer		162
HP:0000005	HP:0034335	Inheritance modifier	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:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:619538	CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4		162
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CA CL E G H	5290	8975	OMIM:619538	CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4		162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer		162
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer		162
HP:0000005	HP:0001442	Somatic mosaicism	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0000005	HP:0003745	Sporadic	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.	162
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0000005	HP:0001442	Somatic mosaicism	1	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic		162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:613659	Gastric cancer, somatic		162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma		162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC		162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to		162
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to		162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:155500	MACRODACTYLY		162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0000005	HP:0003745	Sporadic	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer		162
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer		162
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0000005	HP:0034335	Inheritance modifier	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PIKFYVE CL E G H	200576	23785	OMIM:121850	Corneal fleck dystrophy		112
HP:0000005	HP:0034345	Mendelian inheritance	1	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset		55
HP:0000005	HP:0034345	Mendelian inheritance	1	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5		135
HP:0000005	HP:0034345	Mendelian inheritance	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0000005	HP:0034335	Inheritance modifier	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:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly		8
HP:0000005	HP:0034345	Mendelian inheritance	1	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0000005	HP:0034345	Mendelian inheritance	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000005	HP:0034345	Mendelian inheritance	1	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea		51
HP:0000005	HP:0034345	Mendelian inheritance	1	PITX3 CL E G H	5309	9006	OMIM:107250	Anterior segment dysgenesis 1		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59		45
HP:0000005	HP:0034345	Mendelian inheritance	1	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys		342
HP:0000005	HP:0034345	Mendelian inheritance	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0000005	HP:0034335	Inheritance modifier	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0000005	HP:0034345	Mendelian inheritance	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0000005	HP:0034345	Mendelian inheritance	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000005	HP:0034345	Mendelian inheritance	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0000005	HP:0034345	Mendelian inheritance	1	PKLR CL E G H	5313	9020	OMIM:102900	Adenosine triphosphate, elevated, of erythrocytes		51
HP:0000005	HP:0034345	Mendelian inheritance	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0000005	HP:0034345	Mendelian inheritance	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0000005	HP:0034345	Mendelian inheritance	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0000005	HP:0034335	Inheritance modifier	1	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0000005	HP:0001426	Multifactorial inheritance	1	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to	.	5
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000005	HP:0034335	Inheritance modifier	1	PLAG1 CL E G H	5324	9045	OMIM:181030	Salivary gland adenoma, pleomorphic		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PLAG1 CL E G H	5324	9045	OMIM:181030	Salivary gland adenoma, pleomorphic		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease		50
HP:0000005	HP:0034345	Mendelian inheritance	1	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder		50
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12		119
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3		118
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000005	HP:0034345	Mendelian inheritance	1	PLCZ1 CL E G H	89869	19218	OMIM:617214	Spermatogenic failure 17		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0000005	HP:0034345	Mendelian inheritance	1	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy		759
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type		759
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q		759
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4		186
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0000005	HP:0034345	Mendelian inheritance	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P		57
HP:0000005	HP:0034345	Mendelian inheritance	1	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18		57
HP:0000005	HP:0034345	Mendelian inheritance	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0000005	HP:0034345	Mendelian inheritance	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2		45
HP:0000005	HP:0034345	Mendelian inheritance	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0000005	HP:0034345	Mendelian inheritance	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0000005	HP:0034345	Mendelian inheritance	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000005	HP:0034345	Mendelian inheritance	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0000005	HP:0034345	Mendelian inheritance	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000005	HP:0034345	Mendelian inheritance	1	PMFBP1 CL E G H	83449	17728	OMIM:618112	SPERMATOGENIC FAILURE 31; SPGF31
HP:0000005	HP:0034345	Mendelian inheritance	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0000005	HP:0034345	Mendelian inheritance	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0000005	HP:0034345	Mendelian inheritance	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0000005	HP:0034345	Mendelian inheritance	1	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS		79
HP:0000005	HP:0034345	Mendelian inheritance	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0000005	HP:0034345	Mendelian inheritance	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0000005	HP:0034345	Mendelian inheritance	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0000005	HP:0034345	Mendelian inheritance	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2		7
HP:0000005	HP:0034345	Mendelian inheritance	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000005	HP:0034345	Mendelian inheritance	1	PMS1 CL E G H	5378	9121	OMIM:120435	Lynch syndrome I		56
HP:0000005	HP:0034345	Mendelian inheritance	1	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4		1121
HP:0000005	HP:0034345	Mendelian inheritance	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0000005	HP:0034345	Mendelian inheritance	1	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1		66
HP:0000005	HP:0034345	Mendelian inheritance	1	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4		244
HP:0000005	HP:0034345	Mendelian inheritance	1	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		244
HP:0000005	HP:0034345	Mendelian inheritance	1	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0000005	HP:0034345	Mendelian inheritance	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0000005	HP:0034345	Mendelian inheritance	1	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency		92
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70		60
HP:0000005	HP:0034345	Mendelian inheritance	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0000005	HP:0034345	Mendelian inheritance	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000005	HP:0034345	Mendelian inheritance	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0000005	HP:0034335	Inheritance modifier	1	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000005	HP:0034345	Mendelian inheritance	1	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000005	HP:0034345	Mendelian inheritance	1	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	POGLUT1 CL E G H	56983	22954	OMIM:615696	Dowling-Degos disease 4		6
HP:0000005	HP:0034345	Mendelian inheritance	1	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z		6
HP:0000005	HP:0034345	Mendelian inheritance	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000005	HP:0034345	Mendelian inheritance	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000005	HP:0034345	Mendelian inheritance	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0000005	HP:0034345	Mendelian inheritance	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0000005	HP:0034345	Mendelian inheritance	1	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12		1129
HP:0000005	HP:0034345	Mendelian inheritance	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0000005	HP:0034345	Mendelian inheritance	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0000005	HP:0034345	Mendelian inheritance	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		45
HP:0000005	HP:0034345	Mendelian inheritance	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type		155
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000005	HP:0034335	Inheritance modifier	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3F CL E G H	10621	15763	OMIM:619872
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000005	HP:0034345	Mendelian inheritance	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000005	HP:0034345	Mendelian inheritance	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0000005	HP:0001426	Multifactorial inheritance	1	POMC CL E G H	5443	9201	OMIM:601665	OBESITY		27
HP:0000005	HP:0034345	Mendelian inheritance	1	POMC CL E G H	5443	9201	OMIM:601665	OBESITY		27
HP:0000005	HP:0034345	Mendelian inheritance	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair		27
HP:0000005	HP:0034345	Mendelian inheritance	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0000005	HP:0034345	Mendelian inheritance	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3		180
HP:0000005	HP:0034345	Mendelian inheritance	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0000005	HP:0034345	Mendelian inheritance	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0000005	HP:0034345	Mendelian inheritance	1	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8		33
HP:0000005	HP:0034345	Mendelian inheritance	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0000005	HP:0034345	Mendelian inheritance	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12		18
HP:0000005	HP:0034345	Mendelian inheritance	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0000005	HP:0034345	Mendelian inheritance	1	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0000005	HP:0034345	Mendelian inheritance	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000005	HP:0034345	Mendelian inheritance	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0000005	HP:0034345	Mendelian inheritance	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1		213
HP:0000005	HP:0034345	Mendelian inheritance	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000005	HP:0034345	Mendelian inheritance	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0000005	HP:0034345	Mendelian inheritance	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0000005	HP:0034345	Mendelian inheritance	1	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2		221
HP:0000005	HP:0034345	Mendelian inheritance	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0000005	HP:0034345	Mendelian inheritance	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0000005	HP:0034345	Mendelian inheritance	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0000005	HP:0034345	Mendelian inheritance	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000005	HP:0034345	Mendelian inheritance	1	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase		76
HP:0000005	HP:0034345	Mendelian inheritance	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000005	HP:0034335	Inheritance modifier	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0000005	HP:0034345	Mendelian inheritance	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0000005	HP:0034335	Inheritance modifier	1	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10		23
HP:0000005	HP:0034345	Mendelian inheritance	1	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10		23
HP:0000005	HP:0034345	Mendelian inheritance	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0000005	HP:0034345	Mendelian inheritance	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000005	HP:0034345	Mendelian inheritance	1	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0000005	HP:0034345	Mendelian inheritance	1	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000005	HP:0034345	Mendelian inheritance	1	POU4F3 CL E G H	5459	9220	OMIM:602459	Deafness, autosomal dominant 15		29
HP:0000005	HP:0034335	Inheritance modifier	1	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5		2
HP:0000005	HP:0034345	Mendelian inheritance	1	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PPA2 CL E G H	27068	28883	OMIM:617223	Sudden cardiac failure, alcohol-induced		8
HP:0000005	HP:0034345	Mendelian inheritance	1	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile		8
HP:0000005	HP:0001426	Multifactorial inheritance	1	PPARG CL E G H	5468	9236	OMIM:609338	CAROTID INTIMAL MEDIAL THICKNESS 1		42
HP:0000005	HP:0034345	Mendelian inheritance	1	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent		42
HP:0000005	HP:0034345	Mendelian inheritance	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0000005	HP:0001426	Multifactorial inheritance	1	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY		42
HP:0000005	HP:0034345	Mendelian inheritance	1	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY		42
HP:0000005	HP:0034345	Mendelian inheritance	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0000005	HP:0034345	Mendelian inheritance	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000005	HP:0034345	Mendelian inheritance	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0000005	HP:0034345	Mendelian inheritance	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0000005	HP:0034345	Mendelian inheritance	1	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100		2
HP:0000005	HP:0034335	Inheritance modifier	1	PPM1D CL E G H	8493	9277	OMIM:114480	Breast cancer		22
HP:0000005	HP:0034345	Mendelian inheritance	1	PPM1D CL E G H	8493	9277	OMIM:114480	Breast cancer		22
HP:0000005	HP:0034345	Mendelian inheritance	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0000005	HP:0034345	Mendelian inheritance	1	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent		12
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0000005	HP:0034335	Inheritance modifier	1	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1		172
HP:0000005	HP:0034345	Mendelian inheritance	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000005	HP:0034335	Inheritance modifier	1	PRCC CL E G H	5546	9343	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRCC CL E G H	5546	9343	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36		39
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDM6 CL E G H	93166	9350	OMIM:617039	Patent ductus arteriosus 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDX3 CL E G H	10935	9354	OMIM:619871
HP:0000005	HP:0034345	Mendelian inheritance	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000005	HP:0034345	Mendelian inheritance	1	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22		7
HP:0000005	HP:0034345	Mendelian inheritance	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0000005	HP:0034345	Mendelian inheritance	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B		133
HP:0000005	HP:0034345	Mendelian inheritance	1	PRICKLE3 CL E G H	4007	6645	OMIM:308905	Leber optic atrophy, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000005	HP:0034345	Mendelian inheritance	1	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6		235
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital		235
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac		134
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0000005	HP:0034335	Inheritance modifier	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0000005	HP:0001426	Multifactorial inheritance	1	PRKCH CL E G H	5583	9403	OMIM:601367	STROKE, ISCHEMIC		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts		63
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia		7
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000005	HP:0034335	Inheritance modifier	1	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to		138
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to		138
HP:0000005	HP:0034335	Inheritance modifier	1	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer		138
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer		138
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0000005	HP:0034345	Mendelian inheritance	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0000005	HP:0034345	Mendelian inheritance	1	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0000005	HP:0034345	Mendelian inheritance	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia		69
HP:0000005	HP:0034345	Mendelian inheritance	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease		69
HP:0000005	HP:0034345	Mendelian inheritance	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0000005	HP:0034345	Mendelian inheritance	1	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features		69
HP:0000005	HP:0034345	Mendelian inheritance	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0000005	HP:0034345	Mendelian inheritance	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0000005	HP:0034345	Mendelian inheritance	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I		13
HP:0000005	HP:0034345	Mendelian inheritance	1	PRODH CL E G H	5625	9453	OMIM:600850	Schizophrenia 4		13
HP:0000005	HP:0034335	Inheritance modifier	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0000005	HP:0034345	Mendelian inheritance	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0000005	HP:0034335	Inheritance modifier	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0000005	HP:0034345	Mendelian inheritance	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0000005	HP:0034345	Mendelian inheritance	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0000005	HP:0034345	Mendelian inheritance	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2		110
HP:0000005	HP:0034345	Mendelian inheritance	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0000005	HP:0034345	Mendelian inheritance	1	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4		110
HP:0000005	HP:0034345	Mendelian inheritance	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2		54
HP:0000005	HP:0034345	Mendelian inheritance	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000005	HP:0034345	Mendelian inheritance	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0000005	HP:0034345	Mendelian inheritance	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18		28
HP:0000005	HP:0034335	Inheritance modifier	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPF4 CL E G H	9128	17349	OMIM:615922	Retinitis pigmentosa 70		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60		51
HP:0000005	HP:0034335	Inheritance modifier	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2		159
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus		159
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1		159
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7		159
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1		49
HP:0000005	HP:0034345	Mendelian inheritance	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000005	HP:0034345	Mendelian inheritance	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRRT2 CL E G H	112476	30500	OMIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis		94
HP:0000005	HP:0034335	Inheritance modifier	1	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1		94
HP:0000005	HP:0034345	Mendelian inheritance	1	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1		94
HP:0000005	HP:0034335	Inheritance modifier	1	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2		94
HP:0000005	HP:0034345	Mendelian inheritance	1	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2		94
HP:0000005	HP:0034345	Mendelian inheritance	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0000005	HP:0034345	Mendelian inheritance	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary		51
HP:0000005	HP:0034345	Mendelian inheritance	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1		73
HP:0000005	HP:0034345	Mendelian inheritance	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0000005	HP:0034345	Mendelian inheritance	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0000005	HP:0034345	Mendelian inheritance	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0000005	HP:0034345	Mendelian inheritance	1	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0000005	HP:0034345	Mendelian inheritance	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency		81
HP:0000005	HP:0034345	Mendelian inheritance	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0000005	HP:0034345	Mendelian inheritance	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0000005	HP:0034345	Mendelian inheritance	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0000005	HP:0034345	Mendelian inheritance	1	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0000005	HP:0034345	Mendelian inheritance	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0000005	HP:0034345	Mendelian inheritance	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0000005	HP:0034345	Mendelian inheritance	1	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0000005	HP:0034345	Mendelian inheritance	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0000005	HP:0034345	Mendelian inheritance	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0000005	HP:0034345	Mendelian inheritance	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0000005	HP:0034345	Mendelian inheritance	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain		241
HP:0000005	HP:0003745	Sporadic	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0000005	HP:0034345	Mendelian inheritance	1	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0000005	HP:0034345	Mendelian inheritance	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0000005	HP:0034345	Mendelian inheritance	1	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMB1 CL E G H	5689	9537	OMIM:620038			2
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000005	HP:0034345	Mendelian inheritance	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0000005	HP:0034345	Mendelian inheritance	1	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency		54
HP:0000005	HP:0034345	Mendelian inheritance	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0000005	HP:0034345	Mendelian inheritance	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000005	HP:0034345	Mendelian inheritance	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0000005	HP:0034335	Inheritance modifier	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000005	HP:0034345	Mendelian inheritance	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000005	HP:0034345	Mendelian inheritance	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0000005	HP:0034335	Inheritance modifier	1	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA		40
HP:0000005	HP:0034345	Mendelian inheritance	1	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA		40
HP:0000005	HP:0034345	Mendelian inheritance	1	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4		34
HP:0000005	HP:0034345	Mendelian inheritance	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000005	HP:0003745	Sporadic	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000005	HP:0034345	Mendelian inheritance	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0000005	HP:0034345	Mendelian inheritance	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0000005	HP:0034335	Inheritance modifier	1	PTEN CL E G H	5728	9588	OMIM:607174	Meningioma, familial, susceptibility to		948
HP:0000005	HP:0034345	Mendelian inheritance	1	PTEN CL E G H	5728	9588	OMIM:607174	Meningioma, familial, susceptibility to		948
HP:0000005	HP:0034335	Inheritance modifier	1	PTEN CL E G H	5728	9588	OMIM:176807	Prostate cancer		948
HP:0000005	HP:0034345	Mendelian inheritance	1	PTEN CL E G H	5728	9588	OMIM:176807	Prostate cancer		948
HP:0000005	HP:0034345	Mendelian inheritance	1	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2		22
HP:0000005	HP:0034345	Mendelian inheritance	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0000005	HP:0034345	Mendelian inheritance	1	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance		1
HP:0000005	HP:0001426	Multifactorial inheritance	1	PTGIS CL E G H	5740	9603	OMIM:145500	Hypertension, essential	.	3
HP:0000005	HP:0034345	Mendelian inheritance	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0000005	HP:0034345	Mendelian inheritance	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0000005	HP:0034345	Mendelian inheritance	1	PTH1R CL E G H	5745	9608	OMIM:125350	Dental noneruption		58
HP:0000005	HP:0034345	Mendelian inheritance	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0000005	HP:0034345	Mendelian inheritance	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0000005	HP:0034345	Mendelian inheritance	1	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0000005	HP:0034335	Inheritance modifier	1	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia		291
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia		291
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN11 CL E G H	5781	9644	OMIM:156250	METACHONDROMATOSIS		291
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000005	HP:0034335	Inheritance modifier	1	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0000005	HP:0034335	Inheritance modifier	1	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer		3
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6		2
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPRQ CL E G H	374462	9679	OMIM:617663	Deafness, autosomal dominant 73		7
HP:0000005	HP:0034345	Mendelian inheritance	1	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84		7
HP:0000005	HP:0034345	Mendelian inheritance	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0000005	HP:0034345	Mendelian inheritance	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0000005	HP:0034345	Mendelian inheritance	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome		19
HP:0000005	HP:0034335	Inheritance modifier	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0000005	HP:0034345	Mendelian inheritance	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1		57
HP:0000005	HP:0034345	Mendelian inheritance	1	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0000005	HP:0034345	Mendelian inheritance	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000005	HP:0034345	Mendelian inheritance	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000005	HP:0003745	Sporadic	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000005	HP:0003745	Sporadic	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies		22
HP:0000005	HP:0034345	Mendelian inheritance	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0000005	HP:0034345	Mendelian inheritance	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000005	HP:0034345	Mendelian inheritance	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0000005	HP:0034345	Mendelian inheritance	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0000005	HP:0034345	Mendelian inheritance	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0000005	HP:0034345	Mendelian inheritance	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0000005	HP:0034345	Mendelian inheritance	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C		43
HP:0000005	HP:0034345	Mendelian inheritance	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000005	HP:0034345	Mendelian inheritance	1	QRICH2 CL E G H	84074	25326	OMIM:618341	Spermatogenic failure 35
HP:0000005	HP:0034345	Mendelian inheritance	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18		6
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2		53
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72		34
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000005	HP:0034345	Mendelian inheritance	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0000005	HP:0034345	Mendelian inheritance	1	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0000005	HP:0034345	Mendelian inheritance	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0000005	HP:0034335	Inheritance modifier	1	RAD51 CL E G H	5888	9817	OMIM:114480	Breast cancer		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD51 CL E G H	5888	9817	OMIM:114480	Breast cancer		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R		9
HP:0000005	HP:0034335	Inheritance modifier	1	RAD51 CL E G H	5888	9817	OMIM:614508	Mirror movements 2		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD51 CL E G H	5888	9817	OMIM:614508	Mirror movements 2		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0000005	HP:0034335	Inheritance modifier	1	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer		2
HP:0000005	HP:0034335	Inheritance modifier	1	RAD54L CL E G H	8438	9826	OMIM:114480	Breast cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	RAD54L CL E G H	8438	9826	OMIM:114480	Breast cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0000005	HP:0034345	Mendelian inheritance	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000005	HP:0034345	Mendelian inheritance	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000005	HP:0034345	Mendelian inheritance	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0000005	HP:0034345	Mendelian inheritance	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0000005	HP:0034345	Mendelian inheritance	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000005	HP:0003745	Sporadic	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000005	HP:0034345	Mendelian inheritance	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000005	HP:0034345	Mendelian inheritance	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000005	HP:0034335	Inheritance modifier	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	RAPGEF2 CL E G H	9693	16854	OMIM:618075	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0000005	HP:0034345	Mendelian inheritance	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000005	HP:0034345	Mendelian inheritance	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0000005	HP:0034335	Inheritance modifier	1	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0000005	HP:0034345	Mendelian inheritance	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0000005	HP:0034345	Mendelian inheritance	1	RASA1 CL E G H	5921	9871	OMIM:608354	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1		88
HP:0000005	HP:0034345	Mendelian inheritance	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0000005	HP:0034345	Mendelian inheritance	1	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18		11
HP:0000005	HP:0034345	Mendelian inheritance	1	RAX CL E G H	30062	18662	OMIM:611038	Microphthalmia, isolated 3		43
HP:0000005	HP:0034345	Mendelian inheritance	1	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0000005	HP:0034345	Mendelian inheritance	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11		52
HP:0000005	HP:0034335	Inheritance modifier	1	RB1 CL E G H	5925	9884	OMIM:109800	Bladder cancer		365
HP:0000005	HP:0034345	Mendelian inheritance	1	RB1 CL E G H	5925	9884	OMIM:109800	Bladder cancer		365
HP:0000005	HP:0034335	Inheritance modifier	1	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma		365
HP:0000005	HP:0034335	Inheritance modifier	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0000005	HP:0034345	Mendelian inheritance	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0000005	HP:0003745	Sporadic	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0000005	HP:0034345	Mendelian inheritance	1	RB1 CL E G H	5925	9884	OMIM:182280	Small cell cancer of the lung		365
HP:0000005	HP:0034335	Inheritance modifier	1	RB1CC1 CL E G H	9821	15574	OMIM:114480	Breast cancer		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RB1CC1 CL E G H	9821	15574	OMIM:114480	Breast cancer		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0000005	HP:0034345	Mendelian inheritance	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0000005	HP:0034345	Mendelian inheritance	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0000005	HP:0034345	Mendelian inheritance	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000005	HP:0034345	Mendelian inheritance	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0000005	HP:0034335	Inheritance modifier	1	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd		363
HP:0000005	HP:0034345	Mendelian inheritance	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000005	HP:0034345	Mendelian inheritance	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa		108
HP:0000005	HP:0034345	Mendelian inheritance	1	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66		108
HP:0000005	HP:0034345	Mendelian inheritance	1	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10		8
HP:0000005	HP:0034345	Mendelian inheritance	1	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0000005	HP:0034345	Mendelian inheritance	1	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12		95
HP:0000005	HP:0034345	Mendelian inheritance	1	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13		45
HP:0000005	HP:0034345	Mendelian inheritance	1	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus		32
HP:0000005	HP:0034345	Mendelian inheritance	1	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24		97
HP:0000005	HP:0034345	Mendelian inheritance	1	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0000005	HP:0034345	Mendelian inheritance	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000005	HP:0034345	Mendelian inheritance	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome		445
HP:0000005	HP:0034345	Mendelian inheritance	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000005	HP:0034345	Mendelian inheritance	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0000005	HP:0034345	Mendelian inheritance	1	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB		87
HP:0000005	HP:0034345	Mendelian inheritance	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0000005	HP:0034345	Mendelian inheritance	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0000005	HP:0034345	Mendelian inheritance	1	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77		5
HP:0000005	HP:0034345	Mendelian inheritance	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RELA CL E G H	5970	9955	OMIM:618287	MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0000005	HP:0034335	Inheritance modifier	1	RELN CL E G H	5649	9957	OMIM:616436	EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7		334
HP:0000005	HP:0034345	Mendelian inheritance	1	RELN CL E G H	5649	9957	OMIM:616436	EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7		334
HP:0000005	HP:0034345	Mendelian inheritance	1	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0000005	HP:0034345	Mendelian inheritance	1	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0000005	HP:0034345	Mendelian inheritance	1	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2		25
HP:0000005	HP:0034345	Mendelian inheritance	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis		25
HP:0000005	HP:0034345	Mendelian inheritance	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0000005	HP:0034345	Mendelian inheritance	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000005	HP:0034345	Mendelian inheritance	1	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27		7
HP:0000005	HP:0034345	Mendelian inheritance	1	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5		7
HP:0000005	HP:0034345	Mendelian inheritance	1	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0000005	HP:0034345	Mendelian inheritance	1	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1		572
HP:0000005	HP:0034345	Mendelian inheritance	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0000005	HP:0034345	Mendelian inheritance	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0000005	HP:0034345	Mendelian inheritance	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0000005	HP:0034345	Mendelian inheritance	1	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary		572
HP:0000005	HP:0034345	Mendelian inheritance	1	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0000005	HP:0034345	Mendelian inheritance	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0000005	HP:0034345	Mendelian inheritance	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN		92
HP:0000005	HP:0034345	Mendelian inheritance	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0000005	HP:0034345	Mendelian inheritance	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0000005	HP:0034345	Mendelian inheritance	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0000005	HP:0034345	Mendelian inheritance	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0000005	HP:0034345	Mendelian inheritance	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0000005	HP:0034345	Mendelian inheritance	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0000005	HP:0034345	Mendelian inheritance	1	RGS9 CL E G H	8787	10004	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RGS9BP CL E G H	388531	30304	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS		6
HP:0000005	HP:0034345	Mendelian inheritance	1	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type		13
HP:0000005	HP:0034345	Mendelian inheritance	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis		13
HP:0000005	HP:0034345	Mendelian inheritance	1	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0000005	HP:0034345	Mendelian inheritance	1	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus		107
HP:0000005	HP:0034345	Mendelian inheritance	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1		107
HP:0000005	HP:0034345	Mendelian inheritance	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0000005	HP:0001442	Somatic mosaicism	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000005	HP:0034345	Mendelian inheritance	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4
HP:0000005	HP:0034345	Mendelian inheritance	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000005	HP:0034345	Mendelian inheritance	1	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2
HP:0000005	HP:0034345	Mendelian inheritance	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000005	HP:0034345	Mendelian inheritance	1	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0000005	HP:0034345	Mendelian inheritance	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0000005	HP:0034345	Mendelian inheritance	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0000005	HP:0034345	Mendelian inheritance	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0000005	HP:0034345	Mendelian inheritance	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0000005	HP:0034345	Mendelian inheritance	1	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS		69
HP:0000005	HP:0034345	Mendelian inheritance	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000005	HP:0034345	Mendelian inheritance	1	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RIPPLY2 CL E G H	134701	21390	OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000005	HP:0034345	Mendelian inheritance	1	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy		47
HP:0000005	HP:0034345	Mendelian inheritance	1	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus		47
HP:0000005	HP:0034345	Mendelian inheritance	1	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD		47
HP:0000005	HP:0034345	Mendelian inheritance	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0000005	HP:0034345	Mendelian inheritance	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0000005	HP:0034345	Mendelian inheritance	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0000005	HP:0034345	Mendelian inheritance	1	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis		37
HP:0000005	HP:0034345	Mendelian inheritance	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0000005	HP:0034345	Mendelian inheritance	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0000005	HP:0034345	Mendelian inheritance	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0000005	HP:0034345	Mendelian inheritance	1	RNASEL CL E G H	6041	10050	OMIM:601518	Prostate cancer, hereditary, 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly		37
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000005	HP:0003745	Sporadic	1	RNF139 CL E G H	11236	17023	OMIM:144700	Renal cell carcinoma, nonpapillary	.
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism		10
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RNF43 CL E G H	54894	18505	OMIM:617108	Sessile serrated polyposis cancer syndrome		5
HP:0000005	HP:0034335	Inheritance modifier	1	RNF6 CL E G H	6049	10069	OMIM:133239	Esophageal cancer, somatic		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V
HP:0000005	HP:0034345	Mendelian inheritance	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0000005	HP:0034345	Mendelian inheritance	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000005	HP:0034345	Mendelian inheritance	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0000005	HP:0034345	Mendelian inheritance	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000005	HP:0034345	Mendelian inheritance	1	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0000005	HP:0034345	Mendelian inheritance	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0000005	HP:0034345	Mendelian inheritance	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0000005	HP:0034345	Mendelian inheritance	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome		57
HP:0000005	HP:0034345	Mendelian inheritance	1	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa		38
HP:0000005	HP:0034345	Mendelian inheritance	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7		38
HP:0000005	HP:0034345	Mendelian inheritance	1	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0000005	HP:0034345	Mendelian inheritance	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000005	HP:0034345	Mendelian inheritance	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0000005	HP:0034335	Inheritance modifier	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RORC CL E G H	6097	10260	OMIM:616622	Immunodeficiency 42		5
HP:0000005	HP:0034345	Mendelian inheritance	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0000005	HP:0034345	Mendelian inheritance	1	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD		284
HP:0000005	HP:0034345	Mendelian inheritance	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0000005	HP:0034345	Mendelian inheritance	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0000005	HP:0034345	Mendelian inheritance	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9		14
HP:0000005	HP:0034345	Mendelian inheritance	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0000005	HP:0034345	Mendelian inheritance	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0000005	HP:0034345	Mendelian inheritance	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20		129
HP:0000005	HP:0034345	Mendelian inheritance	1	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87		129
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC		200
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13		109
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6		109
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7		167
HP:0000005	HP:0034345	Mendelian inheritance	1	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5		167
HP:0000005	HP:0034345	Mendelian inheritance	1	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency		18
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0000005	HP:0034345	Mendelian inheritance	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0000005	HP:0034335	Inheritance modifier	1	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0000005	HP:0003745	Sporadic	1	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS27 CL E G H	6232	10416	OMIM:617409	DIAMOND-BLACKFAN ANEMIA 17; DBA17		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000005	HP:0034335	Inheritance modifier	1	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000005	HP:0003745	Sporadic	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000005	HP:0034345	Mendelian inheritance	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0000005	HP:0034345	Mendelian inheritance	1	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital		9
HP:0000005	HP:0034345	Mendelian inheritance	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0000005	HP:0034345	Mendelian inheritance	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0000005	HP:0034345	Mendelian inheritance	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0000005	HP:0034345	Mendelian inheritance	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0000005	HP:0034345	Mendelian inheritance	1	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0000005	HP:0034345	Mendelian inheritance	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24		31
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPO4 CL E G H	343637	16175	OMIM:206800	Anonychia congenita		8
HP:0000005	HP:0034345	Mendelian inheritance	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0000005	HP:0034335	Inheritance modifier	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0000005	HP:0034345	Mendelian inheritance	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0000005	HP:0034345	Mendelian inheritance	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0000005	HP:0034345	Mendelian inheritance	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0000005	HP:0034345	Mendelian inheritance	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0000005	HP:0034335	Inheritance modifier	1	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0000005	HP:0034345	Mendelian inheritance	1	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0000005	HP:0034345	Mendelian inheritance	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0000005	HP:0034345	Mendelian inheritance	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000005	HP:0034345	Mendelian inheritance	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0000005	HP:0034345	Mendelian inheritance	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000005	HP:0034345	Mendelian inheritance	1	RXYLT1 CL E G H	10329	13530	OMIM:615041	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0000005	HP:0034345	Mendelian inheritance	1	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0000005	HP:0034345	Mendelian inheritance	1	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0000005	HP:0034345	Mendelian inheritance	1	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1		32
HP:0000005	HP:0034345	Mendelian inheritance	1	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47		32
HP:0000005	HP:0034345	Mendelian inheritance	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000005	HP:0034345	Mendelian inheritance	1	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000005	HP:0034345	Mendelian inheritance	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5		55
HP:0000005	HP:0034345	Mendelian inheritance	1	SAMHD1 CL E G H	25939	15925	OMIM:614415	Chilblain lupus 2		55
HP:0000005	HP:0034345	Mendelian inheritance	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0000005	HP:0034345	Mendelian inheritance	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0000005	HP:0034345	Mendelian inheritance	1	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0000005	HP:0034345	Mendelian inheritance	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000005	HP:0034345	Mendelian inheritance	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000005	HP:0034345	Mendelian inheritance	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0000005	HP:0034345	Mendelian inheritance	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0000005	HP:0034345	Mendelian inheritance	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0000005	HP:0034345	Mendelian inheritance	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000005	HP:0034345	Mendelian inheritance	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0000005	HP:0034345	Mendelian inheritance	1	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure		77
HP:0000005	HP:0034345	Mendelian inheritance	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000005	HP:0034345	Mendelian inheritance	1	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000005	HP:0001426	Multifactorial inheritance	1	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN10A CL E G H	6336	10582	OMIM:615551	EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2		146
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN11A CL E G H	11280	10583	OMIM:615552	Episodic pain syndrome, familial, 3		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2		1053
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13		126
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1B CL E G H	6324	10586	OMIM:612838	BRUGADA SYNDROME 5; BRGDA5		126
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52		126
HP:0000005	HP:0034335	Inheritance modifier	1	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1		126
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1		126
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11		427
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3		427
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4		70
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis		263
HP:0000005	HP:0034335	Inheritance modifier	1	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2		263
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16		263
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg		263
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1		1134
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3		1134
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0000005	HP:0001426	Multifactorial inheritance	1	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome	.	1134
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome		1134
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN8A CL E G H	6334	10596	OMIM:618364	MYOCLONUS, FAMILIAL, 2; MYOCL2		357
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN8A CL E G H	6334	10596	OMIM:617080	Seizures, benign familial infantile, 5		357
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0000005	HP:0034345	Mendelian inheritance	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder		318
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1		61
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1		61
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNN1G CL E G H	6340	10602	OMIM:613071	Bronchiectasis with or without elevated sweat chloride 3		57
HP:0000005	HP:0034345	Mendelian inheritance	1	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0000005	HP:0034345	Mendelian inheritance	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0000005	HP:0034345	Mendelian inheritance	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0000005	HP:0034345	Mendelian inheritance	1	SCO2 CL E G H	9997	10604	OMIM:608908	Myopia 6		40
HP:0000005	HP:0034345	Mendelian inheritance	1	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy		4
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000005	HP:0001426	Multifactorial inheritance	1	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16		61
HP:0000005	HP:0034345	Mendelian inheritance	1	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7		61
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHA CL E G H	6389	10680	OMIM:614165	PARAGANGLIOMAS 5; PGL5		304
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2		55
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor		237
HP:0000005	HP:0003745	Sporadic	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0000005	HP:0034335	Inheritance modifier	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor		147
HP:0000005	HP:0003745	Sporadic	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0000005	HP:0034345	Mendelian inheritance	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0000005	HP:0034345	Mendelian inheritance	1	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000005	HP:0034345	Mendelian inheritance	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2		137
HP:0000005	HP:0034345	Mendelian inheritance	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000005	HP:0034345	Mendelian inheritance	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0000005	HP:0034345	Mendelian inheritance	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0000005	HP:0034345	Mendelian inheritance	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0000005	HP:0034345	Mendelian inheritance	1	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0000005	HP:0034345	Mendelian inheritance	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10		48
HP:0000005	HP:0034345	Mendelian inheritance	1	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35		48
HP:0000005	HP:0034335	Inheritance modifier	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0000005	HP:0034345	Mendelian inheritance	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0000005	HP:0034345	Mendelian inheritance	1	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0000005	HP:0034345	Mendelian inheritance	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SEPTIN12 CL E G H	124404	26348	OMIM:614822	Spermatogenic failure 10
HP:0000005	HP:0034345	Mendelian inheritance	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000005	HP:0034345	Mendelian inheritance	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome		47
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91		29
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINB8 CL E G H	5271	8952	OMIM:617115	Peeling skin syndrome 5		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINE1 CL E G H	5054	8583	OMIM:613329	Plasminogen activator inhibitor-1 deficiency		39
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI		35
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINF2 CL E G H	5345	9075	OMIM:262850	Plasmin inhibitor deficiency		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPING1 CL E G H	710	1228	OMIM:120790	Complement component 4, partial deficiency of		64
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0000005	HP:0001426	Multifactorial inheritance	1	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes		52
HP:0000005	HP:0034345	Mendelian inheritance	1	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies		28
HP:0000005	HP:0034345	Mendelian inheritance	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0000005	HP:0034345	Mendelian inheritance	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000005	HP:0034345	Mendelian inheritance	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000005	HP:0034345	Mendelian inheritance	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000005	HP:0034345	Mendelian inheritance	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0000005	HP:0034345	Mendelian inheritance	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0000005	HP:0034335	Inheritance modifier	1	SF3B1 CL E G H	23451	10768	OMIM:614286	Myelodysplastic syndrome		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000005	HP:0034345	Mendelian inheritance	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0000005	HP:0034345	Mendelian inheritance	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0000005	HP:0034345	Mendelian inheritance	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0000005	HP:0034345	Mendelian inheritance	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0000005	HP:0034345	Mendelian inheritance	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18		17
HP:0000005	HP:0034345	Mendelian inheritance	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0000005	HP:0034345	Mendelian inheritance	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0000005	HP:0034345	Mendelian inheritance	1	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0000005	HP:0034345	Mendelian inheritance	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0000005	HP:0034335	Inheritance modifier	1	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic		49
HP:0000005	HP:0034345	Mendelian inheritance	1	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic		49
HP:0000005	HP:0034345	Mendelian inheritance	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0000005	HP:0034345	Mendelian inheritance	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000005	HP:0034345	Mendelian inheritance	1	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0000005	HP:0034345	Mendelian inheritance	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1		4
HP:0000005	HP:0034335	Inheritance modifier	1	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0000005	HP:0034345	Mendelian inheritance	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0000005	HP:0034335	Inheritance modifier	1	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0000005	HP:0034345	Mendelian inheritance	1	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0000005	HP:0034345	Mendelian inheritance	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000005	HP:0034345	Mendelian inheritance	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0000005	HP:0034345	Mendelian inheritance	1	SH3TC2 CL E G H	79628	29427	OMIM:613353	Mononeuropathy of the median nerve, mild		493
HP:0000005	HP:0034345	Mendelian inheritance	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000005	HP:0003745	Sporadic	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000005	HP:0034345	Mendelian inheritance	1	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15		53
HP:0000005	HP:0034335	Inheritance modifier	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0000005	HP:0034335	Inheritance modifier	1	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000005	HP:0034345	Mendelian inheritance	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000005	HP:0034345	Mendelian inheritance	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000005	HP:0034345	Mendelian inheritance	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SHOX CL E G H	6473	10853	OMIM:300582	SHORT STATURE, IDIOPATHIC, X-LINKED; ISS		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0000005	HP:0034345	Mendelian inheritance	1	SHQ1 CL E G H	55164	25543	OMIM:619921
HP:0000005	HP:0034345	Mendelian inheritance	1	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital		98
HP:0000005	HP:0034345	Mendelian inheritance	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000005	HP:0034345	Mendelian inheritance	1	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67		11
HP:0000005	HP:0034345	Mendelian inheritance	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0000005	HP:0034345	Mendelian inheritance	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome		67
HP:0000005	HP:0034345	Mendelian inheritance	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000005	HP:0003745	Sporadic	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000005	HP:0034345	Mendelian inheritance	1	SIPA1L3 CL E G H	23094	23801	OMIM:616851	CATARACT 45; CTRCT45		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0000005	HP:0034335	Inheritance modifier	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000005	HP:0034345	Mendelian inheritance	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000005	HP:0034345	Mendelian inheritance	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0000005	HP:0034335	Inheritance modifier	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000005	HP:0034345	Mendelian inheritance	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000005	HP:0003745	Sporadic	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000005	HP:0034345	Mendelian inheritance	1	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2		10
HP:0000005	HP:0034345	Mendelian inheritance	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0000005	HP:0034345	Mendelian inheritance	1	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy		20
HP:0000005	HP:0034345	Mendelian inheritance	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000005	HP:0003745	Sporadic	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000005	HP:0034345	Mendelian inheritance	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0000005	HP:0034345	Mendelian inheritance	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0000005	HP:0034335	Inheritance modifier	1	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta		73
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect		74
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC16A12 CL E G H	387700	23094	OMIM:612018	CATARACT 47; CTRCT47		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease		78
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25		64
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria		71
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0000005	HP:0034335	Inheritance modifier	1	SLC22A18 CL E G H	5002	10964	OMIM:114480	Breast cancer		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC22A18 CL E G H	5002	10964	OMIM:114480	Breast cancer		3
HP:0000005	HP:0034335	Inheritance modifier	1	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria		28
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A11 CL E G H	8402	10981	OMIM:618464	PARAGANGLIOMAS 6; PGL6
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type		36
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3		166
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A32 CL E G H	81034	29683	OMIM:616839	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory		41
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4		166
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital		89
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct		274
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome		274
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61		49
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9		255
HP:0000005	HP:0034335	Inheritance modifier	1	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12		255
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12		255
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1		255
HP:0000005	HP:0034335	Inheritance modifier	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects		255
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent		71
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome		71
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2		57
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2		47
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1		47
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0000005	HP:0001442	Somatic mosaicism	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.	27
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC36A2 CL E G H	153201	18762	OMIM:138500	Glycinuria with or without oxalate urolithiasis		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC3A1 CL E G H	6519	11025	OMIM:220100	CYSTINURIA		55
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS		109
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic		109
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4		109
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A11 CL E G H	83959	16438	OMIM:217700	CORNEAL ENDOTHELIAL DYSTROPHY; CHED		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2		47
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood		51
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption		74
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA		9
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy		29
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A19 CL E G H	340024	27960	OMIM:138500	Glycinuria with or without oxalate urolithiasis		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A20 CL E G H	54716	30927	OMIM:138500	Glycinuria with or without oxalate urolithiasis		96
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA		96
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1		52
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3		81
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC7A9 CL E G H	11136	11067	OMIM:220100	CYSTINURIA		58
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital		7
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0000005	HP:0034345	Mendelian inheritance	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0000005	HP:0001426	Multifactorial inheritance	1	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		52
HP:0000005	HP:0001426	Multifactorial inheritance	1	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0000005	HP:0034345	Mendelian inheritance	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0000005	HP:0034345	Mendelian inheritance	1	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome		58
HP:0000005	HP:0001426	Multifactorial inheritance	1	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA	.	58
HP:0000005	HP:0034345	Mendelian inheritance	1	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA		58
HP:0000005	HP:0034345	Mendelian inheritance	1	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0000005	HP:0034345	Mendelian inheritance	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000005	HP:0034335	Inheritance modifier	1	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer		504
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer		504
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2		33
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7		33
HP:0000005	HP:0034335	Inheritance modifier	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0000005	HP:0034345	Mendelian inheritance	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCA4 CL E G H	6597	11100	OMIM:613325	Rhabdoid tumor predisposition syndrome 2		617
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCAD1 CL E G H	56916	18398	OMIM:136000	Fingerprints, absence of		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCB1 CL E G H	6598	11103	OMIM:609322	Rhabdoid tumor predisposition syndrome 1		87
HP:0000005	HP:0034335	Inheritance modifier	1	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS		87
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS		87
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000005	HP:0034335	Inheritance modifier	1	SMARCE1 CL E G H	6605	11109	OMIM:607174	Meningioma, familial, susceptibility to		47
HP:0000005	HP:0034345	Mendelian inheritance	1	SMARCE1 CL E G H	6605	11109	OMIM:607174	Meningioma, familial, susceptibility to		47
HP:0000005	HP:0034345	Mendelian inheritance	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0000005	HP:0034345	Mendelian inheritance	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000005	HP:0034345	Mendelian inheritance	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000005	HP:0034345	Mendelian inheritance	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000005	HP:0001426	Multifactorial inheritance	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0000005	HP:0034345	Mendelian inheritance	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000005	HP:0034345	Mendelian inheritance	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000005	HP:0034345	Mendelian inheritance	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0000005	HP:0034345	Mendelian inheritance	1	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II		22
HP:0000005	HP:0034345	Mendelian inheritance	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0000005	HP:0034345	Mendelian inheritance	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0000005	HP:0034345	Mendelian inheritance	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0000005	HP:0001442	Somatic mosaicism	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0000005	HP:0034345	Mendelian inheritance	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0000005	HP:0034345	Mendelian inheritance	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0000005	HP:0034345	Mendelian inheritance	1	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0000005	HP:0034345	Mendelian inheritance	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0000005	HP:0034345	Mendelian inheritance	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0000005	HP:0034345	Mendelian inheritance	1	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body		65
HP:0000005	HP:0034345	Mendelian inheritance	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0000005	HP:0034345	Mendelian inheritance	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0000005	HP:0034345	Mendelian inheritance	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0000005	HP:0003745	Sporadic	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0000005	HP:0034345	Mendelian inheritance	1	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SNORA31 CL E G H	677814	32621	OMIM:619396	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10
HP:0000005	HP:0034345	Mendelian inheritance	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000005	HP:0003745	Sporadic	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000005	HP:0003745	Sporadic	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0034345	Mendelian inheritance	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33		83
HP:0000005	HP:0034345	Mendelian inheritance	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000005	HP:0003745	Sporadic	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	HP:0040282 - Frequent	37
HP:0000005	HP:0001426	Multifactorial inheritance	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0000005	HP:0003745	Sporadic	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0000005	HP:0034345	Mendelian inheritance	1	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0000005	HP:0034345	Mendelian inheritance	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0000005	HP:0034345	Mendelian inheritance	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus		29
HP:0000005	HP:0034345	Mendelian inheritance	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0000005	HP:0034345	Mendelian inheritance	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000005	HP:0034345	Mendelian inheritance	1	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SOHLH1 CL E G H	402381	27845	OMIM:618115	Spermatogenic failure 32		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0000005	HP:0034345	Mendelian inheritance	1	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1		315
HP:0000005	HP:0034345	Mendelian inheritance	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000005	HP:0034345	Mendelian inheritance	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0000005	HP:0034345	Mendelian inheritance	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0000005	HP:0034345	Mendelian inheritance	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency		24
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked		24
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000005	HP:0034345	Mendelian inheritance	1	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency		49
HP:0000005	HP:0034345	Mendelian inheritance	1	SP6 CL E G H	80320	14530	OMIM:620104
HP:0000005	HP:0034345	Mendelian inheritance	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0000005	HP:0034345	Mendelian inheritance	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0000005	HP:0034345	Mendelian inheritance	1	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0000005	HP:0034335	Inheritance modifier	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0000005	HP:0034345	Mendelian inheritance	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0000005	HP:0034345	Mendelian inheritance	1	SPATA16 CL E G H	83893	29935	OMIM:102530	SPERMATOGENIC FAILURE 6; SPGF6		31
HP:0000005	HP:0034345	Mendelian inheritance	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome		19
HP:0000005	HP:0034345	Mendelian inheritance	1	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000005	HP:0034345	Mendelian inheritance	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000005	HP:0034345	Mendelian inheritance	1	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3		48
HP:0000005	HP:0034345	Mendelian inheritance	1	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0000005	HP:0003745	Sporadic	1	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	.	6
HP:0000005	HP:0034345	Mendelian inheritance	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43		15
HP:0000005	HP:0034345	Mendelian inheritance	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5		20
HP:0000005	HP:0034345	Mendelian inheritance	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0000005	HP:0034345	Mendelian inheritance	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X		287
HP:0000005	HP:0034345	Mendelian inheritance	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0000005	HP:0034345	Mendelian inheritance	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0000005	HP:0034345	Mendelian inheritance	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0000005	HP:0034345	Mendelian inheritance	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0000005	HP:0034345	Mendelian inheritance	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000005	HP:0034345	Mendelian inheritance	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary		34
HP:0000005	HP:0034345	Mendelian inheritance	1	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis		34
HP:0000005	HP:0034345	Mendelian inheritance	1	SPINK2 CL E G H	6691	11245	OMIM:618091	Spermatogenic failure 29
HP:0000005	HP:0034345	Mendelian inheritance	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0000005	HP:0034345	Mendelian inheritance	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115
HP:0000005	HP:0034345	Mendelian inheritance	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000005	HP:0034345	Mendelian inheritance	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000005	HP:0034345	Mendelian inheritance	1	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0000005	HP:0034345	Mendelian inheritance	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency		28
HP:0000005	HP:0034345	Mendelian inheritance	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000005	HP:0034345	Mendelian inheritance	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000005	HP:0034345	Mendelian inheritance	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary		228
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive		228
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5		416
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14		126
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0000005	HP:0034345	Mendelian inheritance	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0000005	HP:0034345	Mendelian inheritance	1	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0000005	HP:0034345	Mendelian inheritance	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3		62
HP:0000005	HP:0034345	Mendelian inheritance	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0000005	HP:0034345	Mendelian inheritance	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0000005	HP:0034345	Mendelian inheritance	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3		62
HP:0000005	HP:0034345	Mendelian inheritance	1	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000005	HP:0034335	Inheritance modifier	1	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer		15
HP:0000005	HP:0034345	Mendelian inheritance	1	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer		15
HP:0000005	HP:0034345	Mendelian inheritance	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0000005	HP:0034345	Mendelian inheritance	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000005	HP:0034345	Mendelian inheritance	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000005	HP:0034335	Inheritance modifier	1	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0000005	HP:0034345	Mendelian inheritance	1	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0000005	HP:0034345	Mendelian inheritance	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0000005	HP:0034345	Mendelian inheritance	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome		80
HP:0000005	HP:0034345	Mendelian inheritance	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0000005	HP:0034335	Inheritance modifier	1	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0000005	HP:0034345	Mendelian inheritance	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0000005	HP:0034345	Mendelian inheritance	1	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1		68
HP:0000005	HP:0034345	Mendelian inheritance	1	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50
HP:0000005	HP:0034345	Mendelian inheritance	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0000005	HP:0034345	Mendelian inheritance	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0000005	HP:0034345	Mendelian inheritance	1	SSBP1 CL E G H	6742	11317	OMIM:165510	Optic atrophy with negative electroretinograms
HP:0000005	HP:0034345	Mendelian inheritance	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000005	HP:0034335	Inheritance modifier	1	SSX1 CL E G H	6756	11335	OMIM:300813	Sarcoma, synovial
HP:0000005	HP:0034335	Inheritance modifier	1	SSX2 CL E G H	6757	11336	OMIM:300813	Sarcoma, synovial
HP:0000005	HP:0034345	Mendelian inheritance	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15		41
HP:0000005	HP:0034345	Mendelian inheritance	1	ST3GAL3 CL E G H	6487	10866	OMIM:611090	Mental retardation, autosomal recessive 12		41
HP:0000005	HP:0034345	Mendelian inheritance	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome		47
HP:0000005	HP:0034345	Mendelian inheritance	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0000005	HP:0034345	Mendelian inheritance	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0000005	HP:0034345	Mendelian inheritance	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000005	HP:0034345	Mendelian inheritance	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000005	HP:0034345	Mendelian inheritance	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0000005	HP:0034345	Mendelian inheritance	1	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0000005	HP:0034345	Mendelian inheritance	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0000005	HP:0034345	Mendelian inheritance	1	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia		45
HP:0000005	HP:0034345	Mendelian inheritance	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0000005	HP:0034335	Inheritance modifier	1	STAT1 CL E G H	6772	11362	OMIM:614892	Immunodeficiency 31A		89
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT1 CL E G H	6772	11362	OMIM:614892	Immunodeficiency 31A		89
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT1 CL E G H	6772	11362	OMIM:613796	Mycobacterial and viral infections, susceptibility to, autosomal recessive		89
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0000005	HP:0034345	Mendelian inheritance	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000005	HP:0034345	Mendelian inheritance	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive		99
HP:0000005	HP:0034345	Mendelian inheritance	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:0000005	HP:0034345	Mendelian inheritance	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0000005	HP:0034345	Mendelian inheritance	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome		31
HP:0000005	HP:0034345	Mendelian inheritance	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0000005	HP:0034345	Mendelian inheritance	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant		740
HP:0000005	HP:0034335	Inheritance modifier	1	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer		740
HP:0000005	HP:0034345	Mendelian inheritance	1	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer		740
HP:0000005	HP:0034345	Mendelian inheritance	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0000005	HP:0034335	Inheritance modifier	1	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic		740
HP:0000005	HP:0003745	Sporadic	1	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0000005	HP:0034345	Mendelian inheritance	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0000005	HP:0034345	Mendelian inheritance	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0000005	HP:0034345	Mendelian inheritance	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2		2
HP:0000005	HP:0001426	Multifactorial inheritance	1	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2
HP:0000005	HP:0034345	Mendelian inheritance	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0000005	HP:0034345	Mendelian inheritance	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0000005	HP:0034345	Mendelian inheritance	1	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16		78
HP:0000005	HP:0034345	Mendelian inheritance	1	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility		78
HP:0000005	HP:0034345	Mendelian inheritance	1	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7		78
HP:0000005	HP:0034345	Mendelian inheritance	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0000005	HP:0034345	Mendelian inheritance	1	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw		21
HP:0000005	HP:0034345	Mendelian inheritance	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000005	HP:0034345	Mendelian inheritance	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix		18
HP:0000005	HP:0034345	Mendelian inheritance	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0000005	HP:0034345	Mendelian inheritance	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0000005	HP:0034345	Mendelian inheritance	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0000005	HP:0034345	Mendelian inheritance	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB		86
HP:0000005	HP:0003745	Sporadic	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0000005	HP:0034345	Mendelian inheritance	1	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9		9
HP:0000005	HP:0034345	Mendelian inheritance	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0000005	HP:0034345	Mendelian inheritance	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0000005	HP:0034345	Mendelian inheritance	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0000005	HP:0034345	Mendelian inheritance	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0000005	HP:0034345	Mendelian inheritance	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0000005	HP:0034345	Mendelian inheritance	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0000005	HP:0034345	Mendelian inheritance	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0000005	HP:0034345	Mendelian inheritance	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32		124
HP:0000005	HP:0034335	Inheritance modifier	1	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA		124
HP:0000005	HP:0034345	Mendelian inheritance	1	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA		124
HP:0000005	HP:0034335	Inheritance modifier	1	SUFU CL E G H	51684	16466	OMIM:607174	Meningioma, familial, susceptibility to		124
HP:0000005	HP:0034345	Mendelian inheritance	1	SUFU CL E G H	51684	16466	OMIM:607174	Meningioma, familial, susceptibility to		124
HP:0000005	HP:0034345	Mendelian inheritance	1	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III		8
HP:0000005	HP:0034345	Mendelian inheritance	1	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency		80
HP:0000005	HP:0003745	Sporadic	1	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.	8
HP:0000005	HP:0034345	Mendelian inheritance	1	SUN5 CL E G H	140732	16252	OMIM:617187	Spermatogenic failure 16		6
HP:0000005	HP:0034345	Mendelian inheritance	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0000005	HP:0034345	Mendelian inheritance	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000005	HP:0034345	Mendelian inheritance	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K		73
HP:0000005	HP:0034345	Mendelian inheritance	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0000005	HP:0034345	Mendelian inheritance	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000005	HP:0034345	Mendelian inheritance	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SYCE1 CL E G H	93426	28852	OMIM:616947	PREMATURE OVARIAN FAILURE 12; POF12		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0000005	HP:0034345	Mendelian inheritance	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders		58
HP:0000005	HP:0034345	Mendelian inheritance	1	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50		58
HP:0000005	HP:0034345	Mendelian inheritance	1	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA		3
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant		1129
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8		1129
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant		508
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76		21
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53		9
HP:0000005	HP:0034345	Mendelian inheritance	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset		9
HP:0000005	HP:0034345	Mendelian inheritance	1	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96		28
HP:0000005	HP:0034345	Mendelian inheritance	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0000005	HP:0034345	Mendelian inheritance	1	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18		123
HP:0000005	HP:0034345	Mendelian inheritance	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2		11
HP:0000005	HP:0034345	Mendelian inheritance	1	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0000005	HP:0034345	Mendelian inheritance	1	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0000005	HP:0034345	Mendelian inheritance	1	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like		42
HP:0000005	HP:0034345	Mendelian inheritance	1	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked		21
HP:0000005	HP:0034345	Mendelian inheritance	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000005	HP:0034345	Mendelian inheritance	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60		2
HP:0000005	HP:0034335	Inheritance modifier	1	TAF15 CL E G H	8148	11547	OMIM:612237	Chondrosarcoma, extraskeletal myxoid
HP:0000005	HP:0034345	Mendelian inheritance	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000005	HP:0034345	Mendelian inheritance	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000005	HP:0001426	Multifactorial inheritance	1	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0000005	HP:0034335	Inheritance modifier	1	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0000005	HP:0001426	Multifactorial inheritance	1	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0000005	HP:0034335	Inheritance modifier	1	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0000005	HP:0034345	Mendelian inheritance	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0000005	HP:0034345	Mendelian inheritance	1	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000005	HP:0034345	Mendelian inheritance	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0000005	HP:0034345	Mendelian inheritance	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000005	HP:0034345	Mendelian inheritance	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I		17
HP:0000005	HP:0034345	Mendelian inheritance	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia		65
HP:0000005	HP:0034345	Mendelian inheritance	1	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0000005	HP:0034345	Mendelian inheritance	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0000005	HP:0001426	Multifactorial inheritance	1	TAS2R16 CL E G H	50833	14921	OMIM:103780	Alcohol dependence	.	1
HP:0000005	HP:0034345	Mendelian inheritance	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000005	HP:0034345	Mendelian inheritance	1	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency		43
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65		271
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D24 CL E G H	57465	29203	OMIM:614617	Deafness, autosomal recessive 86		271
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16		271
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile		271
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0000005	HP:0034345	Mendelian inheritance	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0000005	HP:0034345	Mendelian inheritance	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0000005	HP:0034345	Mendelian inheritance	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0000005	HP:0034345	Mendelian inheritance	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0000005	HP:0034335	Inheritance modifier	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0000005	HP:0034345	Mendelian inheritance	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0000005	HP:0034345	Mendelian inheritance	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4		20
HP:0000005	HP:0034345	Mendelian inheritance	1	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0000005	HP:0034345	Mendelian inheritance	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000005	HP:0034345	Mendelian inheritance	1	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2
HP:0000005	HP:0034345	Mendelian inheritance	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0000005	HP:0003745	Sporadic	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0000005	HP:0034345	Mendelian inheritance	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations		32
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot		32
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated		57
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked		28
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX4 CL E G H	9496	11603	OMIM:601360	Amelia, autosomal recessive		55
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension		55
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0000005	HP:0034345	Mendelian inheritance	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5		19
HP:0000005	HP:0034345	Mendelian inheritance	1	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0000005	HP:0034345	Mendelian inheritance	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia		16
HP:0000005	HP:0034345	Mendelian inheritance	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0000005	HP:0034345	Mendelian inheritance	1	TBXT CL E G H	6862	11515	OMIM:615709	Sacral agenesis with vertebral anomalies
HP:0000005	HP:0034345	Mendelian inheritance	1	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25		78
HP:0000005	HP:0034345	Mendelian inheritance	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF4 CL E G H	6925	11634	OMIM:613267	Corneal dystrophy, fuchs endothelial, 3		241
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0000005	HP:0034345	Mendelian inheritance	1	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0000005	HP:0034345	Mendelian inheritance	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0000005	HP:0034345	Mendelian inheritance	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000005	HP:0034345	Mendelian inheritance	1	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0000005	HP:0034345	Mendelian inheritance	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24		76
HP:0000005	HP:0034345	Mendelian inheritance	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0000005	HP:0034345	Mendelian inheritance	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0000005	HP:0034345	Mendelian inheritance	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0000005	HP:0034345	Mendelian inheritance	1	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1		52
HP:0000005	HP:0034345	Mendelian inheritance	1	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TDRD7 CL E G H	23424	30831	OMIM:613887	Cataract, autosomal recessive congenital 4		41
HP:0000005	HP:0034345	Mendelian inheritance	1	TDRD9 CL E G H	122402	20122	OMIM:618110	Spermatogenic failure 30
HP:0000005	HP:0034345	Mendelian inheritance	1	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0000005	HP:0034345	Mendelian inheritance	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0000005	HP:0034345	Mendelian inheritance	1	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12		222
HP:0000005	HP:0034345	Mendelian inheritance	1	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21		222
HP:0000005	HP:0034345	Mendelian inheritance	1	TEK CL E G H	7010	11724	OMIM:617272	Glaucoma 3, primary congenital, E		78
HP:0000005	HP:0034345	Mendelian inheritance	1	TEK CL E G H	7010	11724	OMIM:600975	Glaucoma 3, primary infantile, B		78
HP:0000005	HP:0034345	Mendelian inheritance	1	TEK CL E G H	7010	11724	OMIM:600195	Venous malformations, multiple cutaneous and mucosal		78
HP:0000005	HP:0034345	Mendelian inheritance	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0000005	HP:0034335	Inheritance modifier	1	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0000005	HP:0034345	Mendelian inheritance	1	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0000005	HP:0034345	Mendelian inheritance	1	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0000005	HP:0034345	Mendelian inheritance	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0000005	HP:0034335	Inheritance modifier	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2		48
HP:0000005	HP:0034345	Mendelian inheritance	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2		48
HP:0000005	HP:0034335	Inheritance modifier	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0000005	HP:0034345	Mendelian inheritance	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0000005	HP:0034345	Mendelian inheritance	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0000005	HP:0034335	Inheritance modifier	1	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0000005	HP:0034345	Mendelian inheritance	1	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0000005	HP:0034345	Mendelian inheritance	1	TERT CL E G H	7015	11730	OMIM:615134	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9		238
HP:0000005	HP:0034335	Inheritance modifier	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0000005	HP:0034345	Mendelian inheritance	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0000005	HP:0034345	Mendelian inheritance	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0000005	HP:0034345	Mendelian inheritance	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0000005	HP:0034335	Inheritance modifier	1	TET2 CL E G H	54790	25941	OMIM:614286	Myelodysplastic syndrome		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000005	HP:0034345	Mendelian inheritance	1	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TEX14 CL E G H	56155	11737	OMIM:617707	Spermatogenic failure 23		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA		45
HP:0000005	HP:0034345	Mendelian inheritance	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000005	HP:0034345	Mendelian inheritance	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome		104
HP:0000005	HP:0034345	Mendelian inheritance	1	TFAP2B CL E G H	7021	11743	OMIM:617035	Patent ductus arteriosus 2		104
HP:0000005	HP:0034345	Mendelian inheritance	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000005	HP:0034335	Inheritance modifier	1	TFE3 CL E G H	7030	11752	OMIM:300854	Renal cell carcinoma, xp11-associated
HP:0000005	HP:0034345	Mendelian inheritance	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0000005	HP:0034345	Mendelian inheritance	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0000005	HP:0034345	Mendelian inheritance	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0000005	HP:0034345	Mendelian inheritance	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3		155
HP:0000005	HP:0034345	Mendelian inheritance	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1		85
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBR1 CL E G H	7046	11772	OMIM:132800	Multiple self-healing squamous epithelioma		239
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBR2 CL E G H	7048	11773	OMIM:614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6		253
HP:0000005	HP:0034335	Inheritance modifier	1	TGFBR2 CL E G H	7048	11773	OMIM:133239	Esophageal cancer, somatic		253
HP:0000005	HP:0034345	Mendelian inheritance	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0000005	HP:0034345	Mendelian inheritance	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0000005	HP:0034345	Mendelian inheritance	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98
HP:0000005	HP:0034345	Mendelian inheritance	1	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type		44
HP:0000005	HP:0034345	Mendelian inheritance	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0000005	HP:0034345	Mendelian inheritance	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive		80
HP:0000005	HP:0034335	Inheritance modifier	1	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0000005	HP:0034345	Mendelian inheritance	1	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0000005	HP:0034345	Mendelian inheritance	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6		60
HP:0000005	HP:0034345	Mendelian inheritance	1	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0000005	HP:0034345	Mendelian inheritance	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000005	HP:0034345	Mendelian inheritance	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0000005	HP:0034345	Mendelian inheritance	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		23
HP:0000005	HP:0034345	Mendelian inheritance	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0000005	HP:0034345	Mendelian inheritance	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0000005	HP:0034345	Mendelian inheritance	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0000005	HP:0034345	Mendelian inheritance	1	THRB CL E G H	7068	11799	OMIM:145650	Thyroid hormone resistance, selective pituitary		161
HP:0000005	HP:0034345	Mendelian inheritance	1	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0000005	HP:0034345	Mendelian inheritance	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0000005	HP:0034345	Mendelian inheritance	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000005	HP:0034345	Mendelian inheritance	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0000005	HP:0034335	Inheritance modifier	1	TICAM1 CL E G H	148022	18348	OMIM:614850	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TICAM1 CL E G H	148022	18348	OMIM:614850	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0000005	HP:0034345	Mendelian inheritance	1	TIMELESS CL E G H	8914	11813	OMIM:620015
HP:0000005	HP:0034345	Mendelian inheritance	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0000005	HP:0034345	Mendelian inheritance	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0000005	HP:0034345	Mendelian inheritance	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy		95
HP:0000005	HP:0034345	Mendelian inheritance	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000005	HP:0034345	Mendelian inheritance	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0000005	HP:0034345	Mendelian inheritance	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0000005	HP:0003745	Sporadic	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0000005	HP:0034345	Mendelian inheritance	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0000005	HP:0034345	Mendelian inheritance	1	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial		149
HP:0000005	HP:0034345	Mendelian inheritance	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0000005	HP:0034345	Mendelian inheritance	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0000005	HP:0034345	Mendelian inheritance	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0000005	HP:0034345	Mendelian inheritance	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000005	HP:0034345	Mendelian inheritance	1	TLE6 CL E G H	79816	30788	OMIM:616814	Preimplantation embryonic lethality 1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6		6
HP:0000005	HP:0034335	Inheritance modifier	1	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TLR2 CL E G H	7097	11848	OMIM:246300	Leprosy, susceptibility to		5
HP:0000005	HP:0034335	Inheritance modifier	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0000005	HP:0034345	Mendelian inheritance	1	TLR7 CL E G H	51284	15631	OMIM:301051	IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74
HP:0000005	HP:0034345	Mendelian inheritance	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000005	HP:0034335	Inheritance modifier	1	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36		109
HP:0000005	HP:0034345	Mendelian inheritance	1	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7		109
HP:0000005	HP:0034345	Mendelian inheritance	1	TMC6 CL E G H	11322	18021	OMIM:226400	Epidermodysplasia verruciformis, susceptibility to, 1		10
HP:0000005	HP:0034345	Mendelian inheritance	1	TMC8 CL E G H	147138	20474	OMIM:618231	EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV2		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy		23
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20		33
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11		33
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3		171
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant		171
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14		166
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TMIE CL E G H	259236	30800	OMIM:600971	Deafness, autosomal recessive 6		39
HP:0000005	HP:0034345	Mendelian inheritance	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6		10
HP:0000005	HP:0034345	Mendelian inheritance	1	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8		111
HP:0000005	HP:0034345	Mendelian inheritance	1	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA		65
HP:0000005	HP:0034345	Mendelian inheritance	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TNC CL E G H	3371	5318	OMIM:615629	Deafness, autosomal dominant 56		9
HP:0000005	HP:0001426	Multifactorial inheritance	1	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to	.	7
HP:0000005	HP:0034345	Mendelian inheritance	1	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF10B CL E G H	8795	11905	OMIM:275355	Squamous cell carcinoma, head and neck		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis		72
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0000005	HP:0034345	Mendelian inheritance	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7		180
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1		180
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNT2 CL E G H	7139	11949	OMIM:612422	Cardiomyopathy, familial restrictive, 3		248
HP:0000005	HP:0034345	Mendelian inheritance	1	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2		43
HP:0000005	HP:0034345	Mendelian inheritance	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000005	HP:0034345	Mendelian inheritance	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0000005	HP:0034345	Mendelian inheritance	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TNRC6A CL E G H	27327	11969	OMIM:618074	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0000005	HP:0034345	Mendelian inheritance	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000005	HP:0034345	Mendelian inheritance	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0000005	HP:0034345	Mendelian inheritance	1	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8		134
HP:0000005	HP:0034345	Mendelian inheritance	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000005	HP:0034345	Mendelian inheritance	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0000005	HP:0034345	Mendelian inheritance	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0000005	HP:0034345	Mendelian inheritance	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0000005	HP:0034345	Mendelian inheritance	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000005	HP:0034345	Mendelian inheritance	1	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31		61
HP:0000005	HP:0034345	Mendelian inheritance	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000005	HP:0034335	Inheritance modifier	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0000005	HP:0034345	Mendelian inheritance	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0000005	HP:0034345	Mendelian inheritance	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:614740	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5		911
HP:0000005	HP:0034335	Inheritance modifier	1	TP53 CL E G H	7157	11998	OMIM:114480	Breast cancer		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:114480	Breast cancer		911
HP:0000005	HP:0034335	Inheritance modifier	1	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer		911
HP:0000005	HP:0034335	Inheritance modifier	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1		911
HP:0000005	HP:0034335	Inheritance modifier	1	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0000005	HP:0001426	Multifactorial inheritance	1	TP53 CL E G H	7157	11998	OMIM:607107	Nasopharyngeal carcinoma		911
HP:0000005	HP:0034335	Inheritance modifier	1	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma		911
HP:0000005	HP:0034335	Inheritance modifier	1	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus		911
HP:0000005	HP:0034345	Mendelian inheritance	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000005	HP:0034345	Mendelian inheritance	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0000005	HP:0034345	Mendelian inheritance	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000005	HP:0034345	Mendelian inheritance	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000005	HP:0034345	Mendelian inheritance	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0000005	HP:0034345	Mendelian inheritance	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000005	HP:0034345	Mendelian inheritance	1	TP63 CL E G H	8626	15979	OMIM:605289	Split-Hand/foot malformation 4		140
HP:0000005	HP:0034345	Mendelian inheritance	1	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000005	HP:0034345	Mendelian inheritance	1	TPH2 CL E G H	121278	20692	OMIM:613003	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7		31
HP:0000005	HP:0001426	Multifactorial inheritance	1	TPH2 CL E G H	121278	20692	OMIM:608516	Major depressive disorder		31
HP:0000005	HP:0034345	Mendelian inheritance	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0000005	HP:0034345	Mendelian inheritance	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0000005	HP:0034345	Mendelian inheritance	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0000005	HP:0034345	Mendelian inheritance	1	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3		230
HP:0000005	HP:0034345	Mendelian inheritance	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0000005	HP:0034345	Mendelian inheritance	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0000005	HP:0034345	Mendelian inheritance	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0000005	HP:0034345	Mendelian inheritance	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0000005	HP:0034345	Mendelian inheritance	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0000005	HP:0034345	Mendelian inheritance	1	TPMT CL E G H	7172	12014	OMIM:610460	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY		51
HP:0000005	HP:0034345	Mendelian inheritance	1	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0000005	HP:0034345	Mendelian inheritance	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2		203
HP:0000005	HP:0034345	Mendelian inheritance	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7		203
HP:0000005	HP:0034345	Mendelian inheritance	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000005	HP:0034345	Mendelian inheritance	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000005	HP:0034345	Mendelian inheritance	1	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79		32
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18		27
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0000005	HP:0034345	Mendelian inheritance	1	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0000005	HP:0034345	Mendelian inheritance	1	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0000005	HP:0034345	Mendelian inheritance	1	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0000005	HP:0034345	Mendelian inheritance	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0000005	HP:0034345	Mendelian inheritance	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0000005	HP:0034345	Mendelian inheritance	1	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus		56
HP:0000005	HP:0034345	Mendelian inheritance	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0000005	HP:0034345	Mendelian inheritance	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency		5
HP:0000005	HP:0034345	Mendelian inheritance	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11		108
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM36 CL E G H	55521	16280	OMIM:206500	ANENCEPHALY; ANPH		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28		154
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0000005	HP:0034345	Mendelian inheritance	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TRMU CL E G H	55687	25481	OMIM:580000	Deafness, aminoglycoside-induced		101
HP:0000005	HP:0034345	Mendelian inheritance	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNS1 CL E G H	4574	7497	OMIM:580000	Deafness, aminoglycoside-induced
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0000005	HP:0003745	Sporadic	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2		107
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C		104
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6		124
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB		124
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal		85
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2		151
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0000005	HP:0034335	Inheritance modifier	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism		214
HP:0000005	HP:0034335	Inheritance modifier	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0000005	HP:0034335	Inheritance modifier	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0000005	HP:0034345	Mendelian inheritance	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal		4
HP:0000005	HP:0034345	Mendelian inheritance	1	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75		2
HP:0000005	HP:0034345	Mendelian inheritance	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0000005	HP:0034335	Inheritance modifier	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0000005	HP:0003745	Sporadic	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0000005	HP:0034335	Inheritance modifier	1	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		1090
HP:0000005	HP:0034345	Mendelian inheritance	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0000005	HP:0034335	Inheritance modifier	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0000005	HP:0003745	Sporadic	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0000005	HP:0034335	Inheritance modifier	1	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS		2738
HP:0000005	HP:0034345	Mendelian inheritance	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0000005	HP:0034345	Mendelian inheritance	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0000005	HP:0034345	Mendelian inheritance	1	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0000005	HP:0034345	Mendelian inheritance	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0000005	HP:0034345	Mendelian inheritance	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4		102
HP:0000005	HP:0034345	Mendelian inheritance	1	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5		102
HP:0000005	HP:0034345	Mendelian inheritance	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0000005	HP:0034345	Mendelian inheritance	1	TSGA10 CL E G H	80705	14927	OMIM:617961	Spermatogenic failure 26
HP:0000005	HP:0034345	Mendelian inheritance	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0000005	HP:0034345	Mendelian inheritance	1	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0000005	HP:0034345	Mendelian inheritance	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune		97
HP:0000005	HP:0003745	Sporadic	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0000005	HP:0034345	Mendelian inheritance	1	TSHR CL E G H	7253	12373	OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1		97
HP:0000005	HP:0034345	Mendelian inheritance	1	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000005	HP:0034345	Mendelian inheritance	1	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5		39
HP:0000005	HP:0034345	Mendelian inheritance	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58		26
HP:0000005	HP:0034345	Mendelian inheritance	1	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98		39
HP:0000005	HP:0034345	Mendelian inheritance	1	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		39
HP:0000005	HP:0034345	Mendelian inheritance	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11		57
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12		132
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly		132
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC29 CL E G H	83894	29936	OMIM:618745	SPERMATOGENIC FAILURE 42; SPGF42
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0000005	HP:0034345	Mendelian inheritance	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51		41
HP:0000005	HP:0034345	Mendelian inheritance	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0000005	HP:0034345	Mendelian inheritance	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0000005	HP:0034345	Mendelian inheritance	1	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0000005	HP:0034345	Mendelian inheritance	1	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9		7128
HP:0000005	HP:0034345	Mendelian inheritance	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0000005	HP:0034345	Mendelian inheritance	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0000005	HP:0034345	Mendelian inheritance	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0000005	HP:0034335	Inheritance modifier	1	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive		7128
HP:0000005	HP:0034345	Mendelian inheritance	1	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive		7128
HP:0000005	HP:0034345	Mendelian inheritance	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0000005	HP:0034345	Mendelian inheritance	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0000005	HP:0034345	Mendelian inheritance	1	TTR CL E G H	7276	12405	OMIM:115430	Carpal tunnel syndrome		107
HP:0000005	HP:0034345	Mendelian inheritance	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3		106
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia		6
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBA8 CL E G H	51807	12410	OMIM:619840			21
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related		3
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5		23
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7		39
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1		64
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6		66
HP:0000005	HP:0003745	Sporadic	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2		10
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4		14
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3		14
HP:0000005	HP:0034345	Mendelian inheritance	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1		61
HP:0000005	HP:0034345	Mendelian inheritance	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0000005	HP:0034345	Mendelian inheritance	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15		66
HP:0000005	HP:0034345	Mendelian inheritance	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0000005	HP:0034345	Mendelian inheritance	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0000005	HP:0034345	Mendelian inheritance	1	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7		76
HP:0000005	HP:0034345	Mendelian inheritance	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0000005	HP:0034345	Mendelian inheritance	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome		18
HP:0000005	HP:0034345	Mendelian inheritance	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0000005	HP:0034345	Mendelian inheritance	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000005	HP:0034345	Mendelian inheritance	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0000005	HP:0034345	Mendelian inheritance	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)		113
HP:0000005	HP:0034345	Mendelian inheritance	1	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5		113
HP:0000005	HP:0034345	Mendelian inheritance	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		113
HP:0000005	HP:0034345	Mendelian inheritance	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0000005	HP:0034345	Mendelian inheritance	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0000005	HP:0034345	Mendelian inheritance	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000005	HP:0034345	Mendelian inheritance	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000005	HP:0034345	Mendelian inheritance	1	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85
HP:0000005	HP:0034345	Mendelian inheritance	1	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0000005	HP:0034345	Mendelian inheritance	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0000005	HP:0001426	Multifactorial inheritance	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0000005	HP:0034345	Mendelian inheritance	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0000005	HP:0034345	Mendelian inheritance	1	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB		146
HP:0000005	HP:0034345	Mendelian inheritance	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0000005	HP:0034345	Mendelian inheritance	1	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III		62
HP:0000005	HP:0034345	Mendelian inheritance	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0000005	HP:0034335	Inheritance modifier	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0000005	HP:0034345	Mendelian inheritance	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000005	HP:0034345	Mendelian inheritance	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44		13
HP:0000005	HP:0034345	Mendelian inheritance	1	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24		13
HP:0000005	HP:0034345	Mendelian inheritance	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0000005	HP:0034345	Mendelian inheritance	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000005	HP:0034345	Mendelian inheritance	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T		2
HP:0000005	HP:0034345	Mendelian inheritance	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000005	HP:0003745	Sporadic	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	HP:0040282 - Frequent	278
HP:0000005	HP:0034345	Mendelian inheritance	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000005	HP:0034345	Mendelian inheritance	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	UBIAD1 CL E G H	29914	30791	OMIM:121800	Corneal dystrophy, crystalline, of schnyder		69
HP:0000005	HP:0034345	Mendelian inheritance	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia		20
HP:0000005	HP:0034345	Mendelian inheritance	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0000005	HP:0034345	Mendelian inheritance	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000005	HP:0034345	Mendelian inheritance	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy		1
HP:0000005	HP:0034335	Inheritance modifier	1	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0000005	HP:0034345	Mendelian inheritance	1	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0000005	HP:0034345	Mendelian inheritance	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0000005	HP:0001426	Multifactorial inheritance	1	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY		6
HP:0000005	HP:0034345	Mendelian inheritance	1	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY		6
HP:0000005	HP:0034345	Mendelian inheritance	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0000005	HP:0034345	Mendelian inheritance	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000005	HP:0034345	Mendelian inheritance	1	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0000005	HP:0034345	Mendelian inheritance	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0000005	HP:0034345	Mendelian inheritance	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type		2
HP:0000005	HP:0034345	Mendelian inheritance	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000005	HP:0034345	Mendelian inheritance	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000005	HP:0034345	Mendelian inheritance	1	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0000005	HP:0034345	Mendelian inheritance	1	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II		73
HP:0000005	HP:0034345	Mendelian inheritance	1	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal		73
HP:0000005	HP:0034345	Mendelian inheritance	1	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1		66
HP:0000005	HP:0034345	Mendelian inheritance	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0000005	HP:0034345	Mendelian inheritance	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0000005	HP:0034345	Mendelian inheritance	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0000005	HP:0034345	Mendelian inheritance	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000005	HP:0034345	Mendelian inheritance	1	UNC45B CL E G H	146862	14304	OMIM:616279	Cataract 43		1
HP:0000005	HP:0034345	Mendelian inheritance	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0000005	HP:0034345	Mendelian inheritance	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0000005	HP:0034345	Mendelian inheritance	1	UNC93B1 CL E G H	81622	13481	OMIM:610551	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1		5
HP:0000005	HP:0034345	Mendelian inheritance	1	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0000005	HP:0034345	Mendelian inheritance	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0000005	HP:0034345	Mendelian inheritance	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0000005	HP:0034345	Mendelian inheritance	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0000005	HP:0034345	Mendelian inheritance	1	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9		6
HP:0000005	HP:0034345	Mendelian inheritance	1	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3		13
HP:0000005	HP:0034345	Mendelian inheritance	1	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0000005	HP:0034345	Mendelian inheritance	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0000005	HP:0034345	Mendelian inheritance	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0000005	HP:0034345	Mendelian inheritance	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4		34
HP:0000005	HP:0034345	Mendelian inheritance	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0000005	HP:0034345	Mendelian inheritance	1	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda		31
HP:0000005	HP:0034345	Mendelian inheritance	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0000005	HP:0034345	Mendelian inheritance	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0000005	HP:0034345	Mendelian inheritance	1	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A		173
HP:0000005	HP:0034345	Mendelian inheritance	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I		173
HP:0000005	HP:0034345	Mendelian inheritance	1	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC		173
HP:0000005	HP:0034345	Mendelian inheritance	1	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG		78
HP:0000005	HP:0034345	Mendelian inheritance	1	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39		777
HP:0000005	HP:0034345	Mendelian inheritance	1	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA		777
HP:0000005	HP:0034345	Mendelian inheritance	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0000005	HP:0034345	Mendelian inheritance	1	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105		3
HP:0000005	HP:0034345	Mendelian inheritance	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000005	HP:0034345	Mendelian inheritance	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000005	HP:0034345	Mendelian inheritance	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000005	HP:0034345	Mendelian inheritance	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0000005	HP:0034345	Mendelian inheritance	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000005	HP:0034345	Mendelian inheritance	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000005	HP:0034345	Mendelian inheritance	1	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0000005	HP:0034345	Mendelian inheritance	1	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3		3
HP:0000005	HP:0034345	Mendelian inheritance	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset		6
HP:0000005	HP:0034345	Mendelian inheritance	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic		2
HP:0000005	HP:0034345	Mendelian inheritance	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0000005	HP:0034345	Mendelian inheritance	1	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000005	HP:0034345	Mendelian inheritance	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0000005	HP:0034345	Mendelian inheritance	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0000005	HP:0034345	Mendelian inheritance	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0000005	HP:0034345	Mendelian inheritance	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0000005	HP:0034345	Mendelian inheritance	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0000005	HP:0034345	Mendelian inheritance	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000005	HP:0034345	Mendelian inheritance	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0000005	HP:0034345	Mendelian inheritance	1	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11		5
HP:0000005	HP:0034345	Mendelian inheritance	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy		180
HP:0000005	HP:0034345	Mendelian inheritance	1	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0000005	HP:0034345	Mendelian inheritance	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0000005	HP:0034345	Mendelian inheritance	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0000005	HP:0034345	Mendelian inheritance	1	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y		63
HP:0000005	HP:0034345	Mendelian inheritance	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0000005	HP:0034345	Mendelian inheritance	1	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0000005	HP:0034345	Mendelian inheritance	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0000005	HP:0034345	Mendelian inheritance	1	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID		4
HP:0000005	HP:0034345	Mendelian inheritance	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0000005	HP:0034345	Mendelian inheritance	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0000005	HP:0003745	Sporadic	1	VHL CL E G H	7428	12687	OMIM:144700	Renal cell carcinoma, nonpapillary	.	490
HP:0000005	HP:0034345	Mendelian inheritance	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0000005	HP:0034345	Mendelian inheritance	1	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types		3
HP:0000005	HP:0034345	Mendelian inheritance	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0000005	HP:0034345	Mendelian inheritance	1	VKORC1 CL E G H	79001	23663	OMIM:122700	Coumarin resistance		25
HP:0000005	HP:0034345	Mendelian inheritance	1	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0000005	HP:0034345	Mendelian inheritance	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1		111
HP:0000005	HP:0034335	Inheritance modifier	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy		10
HP:0000005	HP:0034345	Mendelian inheritance	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy		10
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS35 CL E G H	55737	13487	OMIM:614203	Parkinson disease 17		37
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000005	HP:0034345	Mendelian inheritance	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000005	HP:0034345	Mendelian inheritance	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0000005	HP:0034345	Mendelian inheritance	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0000005	HP:0034345	Mendelian inheritance	1	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1		47
HP:0000005	HP:0034345	Mendelian inheritance	1	VSX2 CL E G H	338917	1975	OMIM:610093	MICROPHTHALMIA, ISOLATED 2; MCOP2		66
HP:0000005	HP:0034345	Mendelian inheritance	1	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3		66
HP:0000005	HP:0034345	Mendelian inheritance	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0000005	HP:0034345	Mendelian inheritance	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0000005	HP:0034335	Inheritance modifier	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0000005	HP:0034345	Mendelian inheritance	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0000005	HP:0034345	Mendelian inheritance	1	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2		533
HP:0000005	HP:0034345	Mendelian inheritance	1	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0000005	HP:0034345	Mendelian inheritance	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000005	HP:0034345	Mendelian inheritance	1	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX
HP:0000005	HP:0034345	Mendelian inheritance	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:0000005	HP:0034345	Mendelian inheritance	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0000005	HP:0034345	Mendelian inheritance	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0000005	HP:0034345	Mendelian inheritance	1	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0000005	HP:0034345	Mendelian inheritance	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0000005	HP:0034345	Mendelian inheritance	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000005	HP:0034345	Mendelian inheritance	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0000005	HP:0034345	Mendelian inheritance	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000005	HP:0034345	Mendelian inheritance	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0000005	HP:0034345	Mendelian inheritance	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000005	HP:0034345	Mendelian inheritance	1	WBP2 CL E G H	23558	12738	OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107		3
HP:0000005	HP:0034345	Mendelian inheritance	1	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant		6
HP:0000005	HP:0034345	Mendelian inheritance	1	WDPCP CL E G H	51057	28027	OMIM:615992	Bardet-Biedl syndrome 15		60
HP:0000005	HP:0034345	Mendelian inheritance	1	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly		60
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia		10
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V		51
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5		51
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3		137
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2		27
HP:0000005	HP:0034345	Mendelian inheritance	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0000005	HP:0034345	Mendelian inheritance	1	WEE2 CL E G H	494551	19684	OMIM:617996	Oocyte maturation defect 5
HP:0000005	HP:0034345	Mendelian inheritance	1	WFS1 CL E G H	7466	12762	OMIM:116400	Cataract, nuclear total		389
HP:0000005	HP:0034345	Mendelian inheritance	1	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6		389
HP:0000005	HP:0034345	Mendelian inheritance	1	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent		389
HP:0000005	HP:0034345	Mendelian inheritance	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0000005	HP:0034345	Mendelian inheritance	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389
HP:0000005	HP:0034345	Mendelian inheritance	1	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31		155
HP:0000005	HP:0034345	Mendelian inheritance	1	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID		155
HP:0000005	HP:0034345	Mendelian inheritance	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0000005	HP:0034345	Mendelian inheritance	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0000005	HP:0034345	Mendelian inheritance	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000005	HP:0034345	Mendelian inheritance	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0000005	HP:0034345	Mendelian inheritance	1	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC		199
HP:0000005	HP:0034345	Mendelian inheritance	1	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB		71
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV		12
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome		71
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0000005	HP:0034335	Inheritance modifier	1	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8		4
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9		1
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism		4
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0000005	HP:0034345	Mendelian inheritance	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0000005	HP:0034345	Mendelian inheritance	1	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40
HP:0000005	HP:0034345	Mendelian inheritance	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0000005	HP:0034345	Mendelian inheritance	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0000005	HP:0034335	Inheritance modifier	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome		177
HP:0000005	HP:0034345	Mendelian inheritance	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome		177
HP:0000005	HP:0034335	Inheritance modifier	1	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000005	HP:0034345	Mendelian inheritance	1	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000005	HP:0034345	Mendelian inheritance	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0000005	HP:0034335	Inheritance modifier	1	WT1 CL E G H	7490	12796	OMIM:156240	Mesothelioma, malignant		177
HP:0000005	HP:0034345	Mendelian inheritance	1	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4		177
HP:0000005	HP:0034335	Inheritance modifier	1	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1		177
HP:0000005	HP:0034345	Mendelian inheritance	1	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1		177
HP:0000005	HP:0034335	Inheritance modifier	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0000005	HP:0034345	Mendelian inheritance	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0000005	HP:0034345	Mendelian inheritance	1	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28		149
HP:0000005	HP:0034335	Inheritance modifier	1	WWOX CL E G H	51741	12799	OMIM:133239	Esophageal cancer, somatic		149
HP:0000005	HP:0034345	Mendelian inheritance	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0000005	HP:0034345	Mendelian inheritance	1	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79
HP:0000005	HP:0034345	Mendelian inheritance	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0000005	HP:0034345	Mendelian inheritance	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0000005	HP:0034345	Mendelian inheritance	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0000005	HP:0034345	Mendelian inheritance	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0000005	HP:0034345	Mendelian inheritance	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0000005	HP:0034345	Mendelian inheritance	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1		109
HP:0000005	HP:0034345	Mendelian inheritance	1	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6		4
HP:0000005	HP:0034345	Mendelian inheritance	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0000005	HP:0034345	Mendelian inheritance	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0000005	HP:0034345	Mendelian inheritance	1	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0000005	HP:0034345	Mendelian inheritance	1	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0000005	HP:0034335	Inheritance modifier	1	XRCC3 CL E G H	7517	12830	OMIM:114480	Breast cancer		2
HP:0000005	HP:0034345	Mendelian inheritance	1	XRCC3 CL E G H	7517	12830	OMIM:114480	Breast cancer		2
HP:0000005	HP:0034345	Mendelian inheritance	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0000005	HP:0034345	Mendelian inheritance	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0000005	HP:0034345	Mendelian inheritance	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0000005	HP:0034345	Mendelian inheritance	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0000005	HP:0034345	Mendelian inheritance	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation		2
HP:0000005	HP:0034345	Mendelian inheritance	1	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0000005	HP:0034345	Mendelian inheritance	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000005	HP:0034345	Mendelian inheritance	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2		45
HP:0000005	HP:0034345	Mendelian inheritance	1	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4		1
HP:0000005	HP:0034345	Mendelian inheritance	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000005	HP:0034345	Mendelian inheritance	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0000005	HP:0034345	Mendelian inheritance	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0000005	HP:0034345	Mendelian inheritance	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000005	HP:0034345	Mendelian inheritance	1	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0000005	HP:0034345	Mendelian inheritance	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000005	HP:0034345	Mendelian inheritance	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0000005	HP:0034345	Mendelian inheritance	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0000005	HP:0034345	Mendelian inheritance	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0000005	HP:0034345	Mendelian inheritance	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0000005	HP:0034345	Mendelian inheritance	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000005	HP:0003745	Sporadic	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0000005	HP:0034345	Mendelian inheritance	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0000005	HP:0034345	Mendelian inheritance	1	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6		1
HP:0000005	HP:0034335	Inheritance modifier	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000005	HP:0034345	Mendelian inheritance	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000005	HP:0034345	Mendelian inheritance	1	ZC3H14 CL E G H	79882	20509	OMIM:617125	Mental retardation, autosomal recessive 56		24
HP:0000005	HP:0034345	Mendelian inheritance	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000005	HP:0034345	Mendelian inheritance	1	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type		10
HP:0000005	HP:0034345	Mendelian inheritance	1	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0000005	HP:0034345	Mendelian inheritance	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0000005	HP:0034335	Inheritance modifier	1	ZFHX3 CL E G H	463	777	OMIM:176807	Prostate cancer		6
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFHX3 CL E G H	463	777	OMIM:176807	Prostate cancer		6
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFHX4 CL E G H	79776	30939	OMIM:178300	Ptosis, hereditary congenital 1
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1		30
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9		31
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot		31
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0000005	HP:0034345	Mendelian inheritance	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant		52
HP:0000005	HP:0034345	Mendelian inheritance	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000005	HP:0034345	Mendelian inheritance	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000005	HP:0034345	Mendelian inheritance	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0000005	HP:0034345	Mendelian inheritance	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000005	HP:0034345	Mendelian inheritance	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0000005	HP:0034345	Mendelian inheritance	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000005	HP:0034345	Mendelian inheritance	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000005	HP:0034345	Mendelian inheritance	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0000005	HP:0034345	Mendelian inheritance	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000005	HP:0034345	Mendelian inheritance	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF141 CL E G H	7700	12926	OMIM:615226	Polydactyly, postaxial, type A6		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6		14
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58		27
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF644 CL E G H	84146	29222	OMIM:614167	Myopia 21, autosomal dominant		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNF750 CL E G H	79755	25843	OMIM:610227	Seborrhea-Like dermatitis with psoriasiform elements		2
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000005	HP:0034345	Mendelian inheritance	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect		1
HP:0000005	HP:0034345	Mendelian inheritance	1	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0000005	HP:0034345	Mendelian inheritance	1	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3
HP:0000005	HP:0034345	Mendelian inheritance	1	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0000005	HP:0034345	Mendelian inheritance	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000005	HP:0034345	Mendelian inheritance	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0000005	HP:0034345	Mendelian inheritance	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0000005	HP:0034345	Mendelian inheritance	1	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0000005	HP:0032113	Semidominant inheritance	2	CL E G H
HP:0000005	HP:0034339	Pseudoautosomal inheritance	2	CL E G H
HP:0000005	HP:0034343	Requires heterozygosity	2	CL E G H
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to	.	120
HP:0000005	HP:0010982	Polygenic inheritance	2	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to		120
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	A4GALT CL E G H	53947	18149	OMIM:111400	BLOOD GROUP, P1PK SYSTEM		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.	143
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A	.	130
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B	.	130
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCA4 CL E G H	24	34	OMIM:153800	Macular degeneration, age-related, 2	.	826
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19		826
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA4 CL E G H	24	34	OMIM:248200	Stargardt disease 1	.	826
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	HP:0040283 - Occasional	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCB6 CL E G H	10058	47	OMIM:614497	Microphthalmia, isolated, with coloboma 7	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak	.	20
HP:0000005	HP:0001417	X-linked inheritance	2	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77		22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome	.	119
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	.	415
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	245
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12	.	254
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0000005	HP:0001417	X-linked inheritance	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0000005	HP:0010982	Polygenic inheritance	2	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4		76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000005	HP:0001428	Somatic mutation	2	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACACA CL E G H	31	84	OMIM:613933	Acetyl-CoA carboxylase deficiency	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0000005	HP:0000006	Autosomal dominant inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.	91
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria		68
HP:0000005	HP:0001417	X-linked inheritance	2	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTA2 CL E G H	59	130	OMIM:614042	Moyamoya disease 5		94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.	72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5	.	208
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	.	208
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11	.	208
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.	123
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACTL9 CL E G H	284382	28494	OMIM:619258	SPERMATOGENIC FAILURE 53; SPGF53
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.	161
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADAM10 CL E G H	102	188	OMIM:615537	Reticulate acropigmentation of kitamura	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAM9 CL E G H	8754	216	OMIM:612775	Cone-Rod dystrophy 9	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4	.	214
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTSL4 CL E G H	54507	19706	OMIM:225100	Ectopia lentis	.	84
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae	.	84
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	.	116
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1	.	116
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADCY10 CL E G H	55811	21285	OMIM:143870	Hypercalciuria, absorptive, susceptibility to		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR		25
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0000005	HP:0001417	X-linked inheritance	2	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC	.	530
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0000005	HP:0010984	Digenic inheritance	2	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.	5
HP:0000005	HP:0010982	Polygenic inheritance	2	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0010982	Polygenic inheritance	2	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0000005	HP:0001417	X-linked inheritance	2	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe	.	59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AFP CL E G H	174	317	OMIM:615969	ALPHA-FETOPROTEIN DEFICIENCY; AFPD		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AGBL1 CL E G H	123624	26504	OMIM:615523	Corneal dystrophy, fuchs endothelial, 8	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGK CL E G H	55750	21869	OMIM:614691	Cataract, autosomal recessive congenital 5	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3		117
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8	.	127
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0010982	Polygenic inheritance	2	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0000005	HP:0001417	X-linked inheritance	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0000005	HP:0001417	X-linked inheritance	2	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome		60
HP:0000005	HP:0001417	X-linked inheritance	2	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5		60
HP:0000005	HP:0001417	X-linked inheritance	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0000005	HP:0001428	Somatic mutation	2	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.	114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.	114
HP:0000005	HP:0001417	X-linked inheritance	2	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa		114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AK1 CL E G H	203	361	OMIM:612631	Adenylate kinase deficiency, hemolytic anemia due to	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AK7 CL E G H	122481	20091	OMIM:617965	Spermatogenic failure 27	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKAP9 CL E G H	10142	379	OMIM:611820	Long QT syndrome 11	.	289
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AKR1C2 CL E G H	1646	385	OMIM:614279	46,xy sex reversal 8	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AKR1C4 CL E G H	1109	387	OMIM:614279	46,xy sex reversal 8	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKT1 CL E G H	207	391	OMIM:114480	Breast cancer	.	54
HP:0000005	HP:0001428	Somatic mutation	2	AKT1 CL E G H	207	391	OMIM:114480	Breast cancer	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0000005	HP:0001428	Somatic mutation	2	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer	.	54
HP:0000005	HP:0001428	Somatic mutation	2	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer	.	54
HP:0000005	HP:0001428	Somatic mutation	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.	62
HP:0000005	HP:0001417	X-linked inheritance	2	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked		72
HP:0000005	HP:0001417	X-linked inheritance	2	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALDH2 CL E G H	217	404	OMIM:610251	Alcohol sensitivity, acute	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II	.	74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.	227
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0000005	HP:0001417	X-linked inheritance	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3		46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	.	89
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALX4 CL E G H	60529	450	OMIM:615529	Craniosynostosis 5, susceptibility to	.	132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.	132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0000005	HP:0001417	X-linked inheritance	2	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE		17
HP:0000005	HP:0001417	X-linked inheritance	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0000005	HP:0001417	X-linked inheritance	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD		62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANGPTL4 CL E G H	51129	16039	OMIM:615881	PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.	150
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.	150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related	.	539
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.	176
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2	.	164
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	.	17
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	.	17
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.	304
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome	.	12
HP:0000005	HP:0001417	X-linked inheritance	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANTXR1 CL E G H	84168	21014	OMIM:602089	Hemangioma, capillary infantile	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.	49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ANXA5 CL E G H	308	543	OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AP1S3 CL E G H	130340	18971	OMIM:616106	Psoriasis 15, pustular, susceptibility to		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AP4E1 CL E G H	23431	573	OMIM:184450	Stuttering, familial persistent, 1	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0000005	HP:0001428	Somatic mutation	2	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary	.	3179
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0000005	HP:0001428	Somatic mutation	2	APC CL E G H	324	583	OMIM:613659	Gastric cancer, somatic	.	3179
HP:0000005	HP:0001428	Somatic mutation	2	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma	.	3179
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.	356
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.	39
HP:0000005	HP:0010982	Polygenic inheritance	2	APOL1 CL E G H	8542	618	OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.	75
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0000005	HP:0001417	X-linked inheritance	2	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0000005	HP:0001417	X-linked inheritance	2	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AR CL E G H	367	644	OMIM:176807	Prostate cancer	.	125
HP:0000005	HP:0001428	Somatic mutation	2	AR CL E G H	367	644	OMIM:176807	Prostate cancer	.	125
HP:0000005	HP:0001417	X-linked inheritance	2	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000005	HP:0001417	X-linked inheritance	2	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia	.	12
HP:0000005	HP:0001428	Somatic mutation	2	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8		45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.	29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.	29
HP:0000005	HP:0001417	X-linked inheritance	2	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL6 CL E G H	84100	13210	OMIM:613575	RETINITIS PIGMENTOSA 55; RP55		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0000005	HP:0001428	Somatic mutation	2	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000005	HP:0001417	X-linked inheritance	2	ARR3 CL E G H	407	710	OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000005	HP:0001417	X-linked inheritance	2	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.	3
HP:0000005	HP:0001417	X-linked inheritance	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000005	HP:0001417	X-linked inheritance	2	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0000005	HP:0001417	X-linked inheritance	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000005	HP:0001417	X-linked inheritance	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0000005	HP:0001417	X-linked inheritance	2	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome		166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F		54
HP:0000005	HP:0001428	Somatic mutation	2	ASCC1 CL E G H	51008	24268	OMIM:614266	Barrett esophagus	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ASPRV1 CL E G H	151516	26321	OMIM:146750	Ichthyosis, lamellar, autosomal dominant	.	1
HP:0000005	HP:0001428	Somatic mutation	2	ASPSCR1 CL E G H	79058	13825	OMIM:606243	Alveolar soft part sarcoma	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000005	HP:0001428	Somatic mutation	2	ASXL1 CL E G H	171023	18318	OMIM:614286	Myelodysplastic syndrome	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.	71
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATM CL E G H	472	795	OMIM:114480	Breast cancer	.	3267
HP:0000005	HP:0001428	Somatic mutation	2	ATM CL E G H	472	795	OMIM:114480	Breast cancer	.	3267
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000005	HP:0025352	Typically de novo	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia	.	16
HP:0000005	HP:0003743	Genetic anticipation	2	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0000005	HP:0025352	Typically de novo	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000005	HP:0001417	X-linked inheritance	2	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12	.	5
HP:0000005	HP:0001417	X-linked inheritance	2	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP2C1 CL E G H	27032	13211	OMIM:169600	Benign chronic pemphigus	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0000005	HP:0001417	X-linked inheritance	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0000005	HP:0001417	X-linked inheritance	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000005	HP:0001417	X-linked inheritance	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0000005	HP:0001417	X-linked inheritance	2	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0000005	HP:0001417	X-linked inheritance	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000005	HP:0001417	X-linked inheritance	2	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3		192
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	.	168
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000005	HP:0001417	X-linked inheritance	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000005	HP:0001417	X-linked inheritance	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0000005	HP:0003743	Genetic anticipation	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0000005	HP:0003743	Genetic anticipation	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0000005	HP:0003743	Genetic anticipation	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0000005	HP:0003743	Genetic anticipation	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8
HP:0000005	HP:0003743	Genetic anticipation	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0001428	Somatic mutation	2	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0000005	HP:0001417	X-linked inheritance	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0000005	HP:0001417	X-linked inheritance	2	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis		67
HP:0000005	HP:0001428	Somatic mutation	2	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0000005	HP:0001428	Somatic mutation	2	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B9D1 CL E G H	27077	24123	OMIM:614209	Meckel syndrome, type 9	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh	.	204
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2		184
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.	184
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BARD1 CL E G H	580	952	OMIM:114480	Breast cancer	.	790
HP:0000005	HP:0001428	Somatic mutation	2	BARD1 CL E G H	580	952	OMIM:114480	Breast cancer	.	790
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0000005	HP:0001428	Somatic mutation	2	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0000005	HP:0001428	Somatic mutation	2	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	4
HP:0000005	HP:0010982	Polygenic inheritance	2	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74	.	97
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4		87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0000005	HP:0001417	X-linked inheritance	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCHE CL E G H	590	983	OMIM:617936	BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED		67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0000005	HP:0001428	Somatic mutation	2	BCL10 CL E G H	8915	989	OMIM:156240	Mesothelioma, malignant	.	18
HP:0000005	HP:0001428	Somatic mutation	2	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BCO1 CL E G H	53630	13815	OMIM:115300	Carotenemia, familial	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000005	HP:0001417	X-linked inheritance	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000005	HP:0001417	X-linked inheritance	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0000005	HP:0001428	Somatic mutation	2	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	5
HP:0000005	HP:0010982	Polygenic inheritance	2	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	5
HP:0000005	HP:0001428	Somatic mutation	2	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0000005	HP:0001427	Mitochondrial inheritance	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.	182
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50		182
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types	.	15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BFSP2 CL E G H	8419	1041	OMIM:611597	Cataract, autosomal dominant, multiple types 1	.	27
HP:0000005	HP:0001417	X-linked inheritance	2	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0000005	HP:0001417	X-linked inheritance	2	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.	75
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	.	49
HP:0000005	HP:0001417	X-linked inheritance	2	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000005	HP:0010982	Polygenic inheritance	2	BMP4 CL E G H	652	1071	OMIM:600625	OROFACIAL CLEFT 11; OFC11		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome	.	385
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	.	525
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BPNT2 CL E G H	54928	26019	OMIM:614078	Chondrodysplasia with joint dislocations, Gpapp type	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0000005	HP:0001450	Y-linked inheritance	2	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0000005	HP:0001428	Somatic mutation	2	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0000005	HP:0001428	Somatic mutation	2	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.	276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRCA1 CL E G H	672	1100	OMIM:114480	Breast cancer	.	5769
HP:0000005	HP:0001428	Somatic mutation	2	BRCA1 CL E G H	672	1100	OMIM:114480	Breast cancer	.	5769
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRCA2 CL E G H	675	1101	OMIM:114480	Breast cancer	.	7642
HP:0000005	HP:0001428	Somatic mutation	2	BRCA2 CL E G H	675	1101	OMIM:114480	Breast cancer	.	7642
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRCA2 CL E G H	675	1101	OMIM:612555	Breast-Ovarian cancer, familial, susceptibility to, 2	.	7642
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA	.	7642
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA	.	7642
HP:0000005	HP:0001428	Somatic mutation	2	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA	.	7642
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA	.	7642
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRCA2 CL E G H	675	1101	OMIM:176807	Prostate cancer	.	7642
HP:0000005	HP:0001428	Somatic mutation	2	BRCA2 CL E G H	675	1101	OMIM:176807	Prostate cancer	.	7642
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1	.	7642
HP:0000005	HP:0001428	Somatic mutation	2	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1	.	7642
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRDT CL E G H	676	1105	OMIM:617644	Spermatogenic failure 21	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRIP1 CL E G H	83990	20473	OMIM:114480	Breast cancer	.	1086
HP:0000005	HP:0001428	Somatic mutation	2	BRIP1 CL E G H	83990	20473	OMIM:114480	Breast cancer	.	1086
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0000005	HP:0001417	X-linked inheritance	2	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0000005	HP:0001417	X-linked inheritance	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0000005	HP:0001417	X-linked inheritance	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0000005	HP:0001428	Somatic mutation	2	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0000005	HP:0001428	Somatic mutation	2	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0000005	HP:0001428	Somatic mutation	2	C1GALT1C1 CL E G H	29071	24338	OMIM:300622	Tn polyagglutination syndrome	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C2 CL E G H	717	1248	OMIM:217000	Complement component 2 deficiency	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive	.	92
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C6 CL E G H	729	1339	OMIM:612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C7 CL E G H	730	1346	OMIM:610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C8A CL E G H	731	1352	OMIM:613790	Complement component 8 deficiency, type I	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	C8B CL E G H	732	1353	OMIM:613789	Complement component 8 deficiency, type II	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	C9 CL E G H	735	1358	OMIM:615591	MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15		10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CABP2 CL E G H	51475	1385	OMIM:614899	Deafness, autosomal recessive 93	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive		94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0000005	HP:0003743	Genetic anticipation	2	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3		572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.	572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness	.	51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0000005	HP:0001417	X-linked inheritance	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.	58
HP:0000005	HP:0001417	X-linked inheritance	2	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0000005	HP:0001417	X-linked inheritance	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	247
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	247
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5	.	247
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4		129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNB2 CL E G H	783	1402	OMIM:611876	BRUGADA SYNDROME 4; BRGDA4		206
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.	146
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.	146
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.	146
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0000005	HP:0001428	Somatic mutation	2	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0010982	Polygenic inheritance	2	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0000005	HP:0001417	X-linked inheritance	2	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0000005	HP:0001417	X-linked inheritance	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0000005	HP:0001428	Somatic mutation	2	CASP10 CL E G H	843	1500	OMIM:613659	Gastric cancer, somatic	.	87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASP8 CL E G H	841	1509	OMIM:114480	Breast cancer	.	37
HP:0000005	HP:0001428	Somatic mutation	2	CASP8 CL E G H	841	1509	OMIM:114480	Breast cancer	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0000005	HP:0001428	Somatic mutation	2	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0000005	HP:0001428	Somatic mutation	2	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CASQ2 CL E G H	845	1513	OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	.	129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAT CL E G H	847	1516	OMIM:614097	Acatalasemia		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	148
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum	.	148
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	.	148
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia	.	317
HP:0000005	HP:0001428	Somatic mutation	2	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia	.	317
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CBX2 CL E G H	84733	1552	OMIM:613080	46XY sex reversal 5	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	.	247
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93		247
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0000005	HP:0001417	X-linked inheritance	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCDC50 CL E G H	152137	18111	OMIM:607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44		35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCM2 CL E G H	83605	21708	OMIM:603284	Cerebral cavernous malformations-2		37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0001428	Somatic mutation	2	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0001428	Somatic mutation	2	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29		23
HP:0000005	HP:0001417	X-linked inheritance	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency		53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0000005	HP:0001417	X-linked inheritance	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1	.	169
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0000005	HP:0001428	Somatic mutation	2	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.	1003
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH1 CL E G H	999	1748	OMIM:114480	Breast cancer	.	1003
HP:0000005	HP:0001428	Somatic mutation	2	CDH1 CL E G H	999	1748	OMIM:114480	Breast cancer	.	1003
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH1 CL E G H	999	1748	OMIM:608089	Endometrial carcinoma, somatic	.	1003
HP:0000005	HP:0001428	Somatic mutation	2	CDH1 CL E G H	999	1748	OMIM:608089	Endometrial carcinoma, somatic	.	1003
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse	.	1003
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer	.	1003
HP:0000005	HP:0001428	Somatic mutation	2	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer	.	1003
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH1 CL E G H	999	1748	OMIM:176807	Prostate cancer	.	1003
HP:0000005	HP:0001428	Somatic mutation	2	CDH1 CL E G H	999	1748	OMIM:176807	Prostate cancer	.	1003
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH15 CL E G H	1013	1754	OMIM:612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3		53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12	.	636
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types	.	636
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types	.	636
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID	.	636
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.	87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy	.	87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.	145
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	.	181
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000005	HP:0001417	X-linked inheritance	2	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDKN2A CL E G H	1029	1787	OMIM:155601	Melanoma, cutaneous malignant, susceptibility to, 2	.	289
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome	.	289
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome	.	289
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CDSN CL E G H	1041	1802	OMIM:146520	Hypotrichosis 2	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0000005	HP:0001450	Y-linked inheritance	2	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0001450	Y-linked inheritance	2	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CEACAM16 CL E G H	388551	31948	OMIM:614614	Deafness, autosomal dominant 4B	.	30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEACAM16 CL E G H	388551	31948	OMIM:618410	DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113		30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid	.	65
HP:0000005	HP:0001428	Somatic mutation	2	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction	.	25
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6	.	161
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP112 CL E G H	201134	28514	OMIM:619044	SPERMATOGENIC FAILURE 44; SPGF44		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive	.	146
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.	342
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP290 CL E G H	80184	29021	OMIM:611755	Leber congenital amaurosis 10		342
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.	342
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.	90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26		71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CES1 CL E G H	1066	1863	OMIM:618057	DRUG METABOLISM, ALTERED, CES1-RELATED		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP251 CL E G H	144406	28506	OMIM:618152	Spermatogenic failure 33	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0000005	HP:0001417	X-linked inheritance	2	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0000005	HP:0001417	X-linked inheritance	2	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP58 CL E G H	159686	26676	OMIM:619144	SPERMATOGENIC FAILURE 49; SPGF49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP69 CL E G H	79846	26107	OMIM:617959	SPERMATOGENIC FAILURE 24; SPGF24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP70 CL E G H	118491	30726	OMIM:618670	SPERMATOGENIC FAILURE 41; SPGF41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFD CL E G H	1675	2771	OMIM:613912	Complement factor D deficiency	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4		86
HP:0000005	HP:0010982	Polygenic inheritance	2	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0000005	HP:0001417	X-linked inheritance	2	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	1371
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of	.	1371
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia		515
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000005	HP:0025352	Typically de novo	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHEK2 CL E G H	11200	16627	OMIM:114480	Breast cancer	.	833
HP:0000005	HP:0001428	Somatic mutation	2	CHEK2 CL E G H	11200	16627	OMIM:114480	Breast cancer	.	833
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0000005	HP:0001428	Somatic mutation	2	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0000005	HP:0001428	Somatic mutation	2	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma	.	833
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHEK2 CL E G H	11200	16627	OMIM:176807	Prostate cancer	.	833
HP:0000005	HP:0001428	Somatic mutation	2	CHEK2 CL E G H	11200	16627	OMIM:176807	Prostate cancer	.	833
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid	.
HP:0000005	HP:0001428	Somatic mutation	2	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0000005	HP:0001427	Mitochondrial inheritance	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0000005	HP:0001417	X-linked inheritance	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHMP4B CL E G H	128866	16171	OMIM:605387	Cataract 31, multiple types		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2		35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0000005	HP:0001417	X-linked inheritance	2	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.	188
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.	188
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1		225
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1	.	225
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome	.	52
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	.	53
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNB2 CL E G H	1141	1962	OMIM:605375	EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3		88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.	139
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.	129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIBAR1 CL E G H	137392	30452	OMIM:618219	POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	.	133
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLCN2 CL E G H	1181	2020	OMIM:607628	Epilepsy with grand mal seizures on awakening	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II	.	44
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0000005	HP:0001417	X-linked inheritance	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0000005	HP:0001417	X-linked inheritance	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0000005	HP:0001417	X-linked inheritance	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0000005	HP:0001417	X-linked inheritance	2	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0000005	HP:0001417	X-linked inheritance	2	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.	102
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29		57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0000005	HP:0001417	X-linked inheritance	2	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLDN9 CL E G H	9080	2051	OMIM:619093	DEAFNESS, AUTOSOMAL RECESSIVE 116; DFNB116
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0000005	HP:0001417	X-linked inheritance	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.	143
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.	60
HP:0000005	HP:0001417	X-linked inheritance	2	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CLRN2 CL E G H	645104	33939	OMIM:619174	DEAFNESS, AUTOSOMAL RECESSIVE 117; DFNB117
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.	44
HP:0000005	HP:0001417	X-linked inheritance	2	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa		44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49		44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	.	164
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0000005	HP:0001417	X-linked inheritance	2	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNTN2 CL E G H	6900	2172	OMIM:615400	Epilepsy, familial adult myoclonic, 5	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COCH CL E G H	1690	2180	OMIM:618094	Deafness, autosomal recessive 110	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL11A1 CL E G H	1301	2186	OMIM:618533	DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37		215
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL11A2 CL E G H	1302	2187	OMIM:601868	Deafness, autosomal dominant nonsyndromic sensorineural 13	.	222
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL11A2 CL E G H	1302	2187	OMIM:609706	Deafness, autosomal recessive 53	.	222
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.	129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC		177
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS	.	373
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS	.	243
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR		284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED		284
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of	.	193
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.	161
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A3 CL E G H	1285	2204	OMIM:141200	Hematuria, benign familial	.	161
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.	174
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL4A4 CL E G H	1286	2206	OMIM:141200	Hematuria, benign familial	.	174
HP:0000005	HP:0001417	X-linked inheritance	2	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0000005	HP:0001417	X-linked inheritance	2	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6		18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27	.	702
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.	263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial	.	263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa	.	263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8		263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.	263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL8A2 CL E G H	1296	2216	OMIM:609140	Corneal dystrophy, posterior polymorphous, 2	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.	110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COL9A3 CL E G H	1299	2219	OMIM:620022			137
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia	.	89
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COMT CL E G H	1312	2228	OMIM:167870	Panic disorder 1	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.	136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0000005	HP:0001427	Mitochondrial inheritance	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.	104
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000005	HP:0001427	Mitochondrial inheritance	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0000005	HP:0001427	Mitochondrial inheritance	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0000005	HP:0001417	X-linked inheritance	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0000005	HP:0001417	X-linked inheritance	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5	.	49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPA6 CL E G H	57094	17245	OMIM:614418	FEBRILE SEIZURES, FAMILIAL, 11; FEB11		49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	156
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156
HP:0000005	HP:0001417	X-linked inheritance	2	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12	.	156
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.	19
HP:0000005	HP:0001428	Somatic mutation	2	CREB1 CL E G H	1385	2345	OMIM:612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.	158
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.	158
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.	158
HP:0000005	HP:0001417	X-linked inheritance	2	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa		158
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRY1 CL E G H	1407	2384	OMIM:614163	Delayed sleep phase disorder, susceptibility to	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYBA1 CL E G H	1411	2394	OMIM:600881	Cataract, congenital zonular, with sutural opacities	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYBA2 CL E G H	1412	2395	OMIM:115900	Cataract 42	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYBA4 CL E G H	1413	2396	OMIM:610425	CATARACT 23, MULTIPLE TYPES; CTRCT23		10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types		13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYBB3 CL E G H	1417	2400	OMIM:609741	Cataract 22, multiple types	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CRYBB3 CL E G H	1417	2400	OMIM:609741	Cataract 22, multiple types	.	22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYGB CL E G H	1419	2409	OMIM:615188	Cataract, multiple types	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYGD CL E G H	1421	2411	OMIM:115700	Cataract, crystalline aculeiform	.	29
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYGS CL E G H	1427	2417	OMIM:116100	Cataract, membranous	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CRYM CL E G H	1428	2418	OMIM:616357	DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0000005	HP:0001417	X-linked inheritance	2	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CSF3R CL E G H	1441	2439	OMIM:617014	Neutropenia, severe congenital, 7, autosomal recessive	.	34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CSNK1D CL E G H	1453	2452	OMIM:615224	Advanced sleep phase syndrome, familial, 2	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12	.	104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI	.	3
HP:0000005	HP:0010982	Polygenic inheritance	2	CST3 CL E G H	1471	2475	OMIM:611953	Macular degeneration, age-related, 11	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTH CL E G H	1491	2501	OMIM:219500	CYSTATHIONINURIA	.	38
HP:0000005	HP:0001428	Somatic mutation	2	CTHRC1 CL E G H	115908	18831	OMIM:614266	Barrett esophagus	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTLA4 CL E G H	1493	2505	OMIM:140300	Hashimoto thyroiditis	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2	.	141
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13	.	98
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0000005	HP:0001428	Somatic mutation	2	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7	.	88
HP:0000005	HP:0001428	Somatic mutation	2	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA	.	88
HP:0000005	HP:0001428	Somatic mutation	2	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA	.	88
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer	.	88
HP:0000005	HP:0001428	Somatic mutation	2	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer	.	88
HP:0000005	HP:0001428	Somatic mutation	2	CTNNB1 CL E G H	1499	2514	OMIM:132600	PILOMATRIXOMA		88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic	.	178
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTSC CL E G H	1075	2528	OMIM:170650	Periodontitis, aggressive, 1	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.	273
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0000005	HP:0001417	X-linked inheritance	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0000005	HP:0001417	X-linked inheritance	2	CYBB CL E G H	1536	2578	OMIM:300645	Atypical mycobacteriosis, familial, X-linked 2		111
HP:0000005	HP:0001417	X-linked inheritance	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYCS CL E G H	54205	19986	OMIM:612004	Thrombocytopenia 4	.	82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYLD CL E G H	1540	2584	OMIM:605041	Brooke-Spiegler syndrome	.	126
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYLD CL E G H	1540	2584	OMIM:132700	Cylindromatosis, familial	.	126
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYLD CL E G H	1540	2584	OMIM:601606	Trichoepithelioma, multiple familial, 1	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism	.	112
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP19A1 CL E G H	1588	2594	OMIM:613546	Aromatase deficiency		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYP19A1 CL E G H	1588	2594	OMIM:139300	Aromatase excess syndrome	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP1B1 CL E G H	1545	2597	OMIM:617315	ANTERIOR SEGMENT DYSGENESIS 6; ASGD6		101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP1B1 CL E G H	1545	2597	OMIM:231300	Glaucoma 3, primary congenital, A		101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP1B1 CL E G H	1545	2597	OMIM:600975	Glaucoma 3, primary infantile, B	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP26B1 CL E G H	56603	20581	OMIM:614416	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP26C1 CL E G H	340665	20577	OMIM:614974	FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYP2A6 CL E G H	1548	2610	OMIM:122700	Coumarin resistance	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0000005	HP:0001428	Somatic mutation	2	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYP2C9 CL E G H	1559	2623	OMIM:122700	Coumarin resistance	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP2D6 CL E G H	1565	2625	OMIM:608902	Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0000005	HP:0001427	Mitochondrial inheritance	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0000005	HP:0001450	Y-linked inheritance	2	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0001450	Y-linked inheritance	2	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0001450	Y-linked inheritance	2	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0000005	HP:0001428	Somatic mutation	2	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0000005	HP:0001428	Somatic mutation	2	DCC CL E G H	1630	2701	OMIM:133239	Esophageal cancer, somatic	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	.	36
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2	.	27
HP:0000005	HP:0003831	Typified by age-related penetrance	2	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal		31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0000005	HP:0001417	X-linked inheritance	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.	62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0000005	HP:0001417	X-linked inheritance	2	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000005	HP:0001450	Y-linked inheritance	2	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci	.	172
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I		263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.	263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD		12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.	118
HP:0000005	HP:0001417	X-linked inheritance	2	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1	.	670
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA	.
HP:0000005	HP:0001417	X-linked inheritance	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0000005	HP:0001428	Somatic mutation	2	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.	89
HP:0000005	HP:0001417	X-linked inheritance	2	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1		3
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	.	3
HP:0000005	HP:0001417	X-linked inheritance	2	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B	.	1496
HP:0000005	HP:0001417	X-linked inheritance	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0000005	HP:0001417	X-linked inheritance	2	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type		1496
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD		27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0000005	HP:0001417	X-linked inheritance	2	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH1 CL E G H	25981	2940	OMIM:617576	Spermatogenic failure 18	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH2 CL E G H	146754	2948	OMIM:619094	SPERMATOGENIC FAILURE 45; SPGF45		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46		153
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	.	30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNAL4 CL E G H	10126	2955	OMIM:616059	Mirror movements 3	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.	72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid	.	44
HP:0000005	HP:0001428	Somatic mutation	2	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0000005	HP:0010984	Digenic inheritance	2	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4		79
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3		91
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33		18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2		18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DRD4 CL E G H	1815	3025	OMIM:143465	Attention deficit-hyperactivity disorder	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DRD5 CL E G H	1816	3026	OMIM:143465	Attention deficit-hyperactivity disorder	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.	358
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSG3 CL E G H	1830	3050	OMIM:619226	BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA; ABOLM
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.	747
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.	747
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II	.	747
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.	747
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.	108
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DUOX2 CL E G H	50506	13273	OMIM:607200	Thyroid dyshormonogenesis 6	.	121
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DUT CL E G H	1854	3078	OMIM:620044
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.	427
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.	427
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.	304
HP:0000005	HP:0010984	Digenic inheritance	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.	304
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.	600
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset	.	600
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0000005	HP:0003831	Typified by age-related penetrance	2	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000005	HP:0001417	X-linked inheritance	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0000005	HP:0001417	X-linked inheritance	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0000005	HP:0001417	X-linked inheritance	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0000005	HP:0001417	X-linked inheritance	2	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDN1 CL E G H	1906	3176	OMIM:612798	Question mark ears, isolated	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDN3 CL E G H	1908	3178	OMIM:613712	Hirschsprung disease, susceptibility to, 4	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDNRB CL E G H	1910	3180	OMIM:600155	Hirschsprung disease, susceptibility to, 2	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence	.	153
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1	.	153
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4		73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0000005	HP:0001428	Somatic mutation	2	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3	.	128
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000005	HP:0025352	Typically de novo	2	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0000005	HP:0001417	X-linked inheritance	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.	79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0000005	HP:0001417	X-linked inheritance	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ELMOD3 CL E G H	84173	26158	OMIM:615429	DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA	.	133
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA	.	133
HP:0000005	HP:0001428	Somatic mutation	2	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA	.	133
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA	.	133
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000005	HP:0001417	X-linked inheritance	2	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	.	151
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease	.	151
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	151
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.	151
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.	151
HP:0000005	HP:0010982	Polygenic inheritance	2	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.	151
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.	250
HP:0000005	HP:0001428	Somatic mutation	2	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.	250
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital	.	170
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included		87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPHB2 CL E G H	2048	3393	OMIM:618462	Bleeding disorder, platelet-type, 22	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2	.	3
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EPS8L2 CL E G H	64787	21296	OMIM:617637	DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0000005	HP:0001428	Somatic mutation	2	ERBB2 CL E G H	2064	3430	OMIM:613659	Gastric cancer, somatic	.	77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0000005	HP:0001428	Somatic mutation	2	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to	.	77
HP:0000005	HP:0001428	Somatic mutation	2	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to	.	77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer	.	77
HP:0000005	HP:0001428	Somatic mutation	2	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer	.	77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	.	158
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.	83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	.	83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to	.	199
HP:0000005	HP:0001428	Somatic mutation	2	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1	.	199
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ESR1 CL E G H	2099	3467	OMIM:114480	Breast cancer	.	13
HP:0000005	HP:0001428	Somatic mutation	2	ESR1 CL E G H	2099	3467	OMIM:114480	Breast cancer	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35		78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid	.	13
HP:0000005	HP:0001428	Somatic mutation	2	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0000005	HP:0001428	Somatic mutation	2	EWSR1 CL E G H	2130	3508	OMIM:612219	Ewing sarcoma	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXPH5 CL E G H	23086	30578	OMIM:615028	Epidermolysis bullosa, nonspecific, autosomal recessive	.	2
HP:0000005	HP:0001428	Somatic mutation	2	EXT1 CL E G H	2131	3512	OMIM:215300	Chondrosarcoma	.	96
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J		111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EYA4 CL E G H	2070	3522	OMIM:601316	Deafness, autosomal dominant nonsyndromic sensorineural 10	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25		209
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency	.	132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency	.	132
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	F2 CL E G H	2147	3535	OMIM:614390	Pregnancy loss, recurrent, susceptibility to, 2	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome	.	159
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1	.	159
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency	.	70
HP:0000005	HP:0001417	X-linked inheritance	2	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0000005	HP:0001417	X-linked inheritance	2	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0000005	HP:0001417	X-linked inheritance	2	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0000005	HP:0001417	X-linked inheritance	2	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28		56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000005	HP:0001417	X-linked inheritance	2	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0000005	HP:0001417	X-linked inheritance	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000005	HP:0001417	X-linked inheritance	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCM CL E G H	57697	23168	OMIM:618096	Premature ovarian failure 15	.	107
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0000005	HP:0001428	Somatic mutation	2	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBLN1 CL E G H	2192	3600	OMIM:608180	Synpolydactyly 2	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD		655
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.	64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FDPS CL E G H	2224	3631	OMIM:616631	Porokeratosis 9, multiple types	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	62
HP:0000005	HP:0001417	X-linked inheritance	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.	3
HP:0000005	HP:0001417	X-linked inheritance	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.	47
HP:0000005	HP:0001417	X-linked inheritance	2	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGF5 CL E G H	2250	3683	OMIM:190330	Trichomegaly	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.	17
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000005	HP:0001428	Somatic mutation	2	FGFR2 CL E G H	2263	3689	OMIM:613659	Gastric cancer, somatic	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:109800	Bladder cancer	.	145
HP:0000005	HP:0001428	Somatic mutation	2	FGFR3 CL E G H	2261	3690	OMIM:109800	Bladder cancer	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.	145
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.	145
HP:0000005	HP:0001428	Somatic mutation	2	FGFR3 CL E G H	2261	3690	OMIM:603956	Cervical cancer	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.	145
HP:0000005	HP:0001428	Somatic mutation	2	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0000005	HP:0001428	Somatic mutation	2	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.	301
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.	301
HP:0000005	HP:0001417	X-linked inheritance	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0000005	HP:0001417	X-linked inheritance	2	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0000005	HP:0001417	X-linked inheritance	2	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0000005	HP:0001417	X-linked inheritance	2	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0000005	HP:0001417	X-linked inheritance	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11		111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000005	HP:0001470	Sex-limited expression	2	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.	13
HP:0000005	HP:0010982	Polygenic inheritance	2	FKBP5 CL E G H	2289	3721	OMIM:608516	Major depressive disorder		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X	.	184
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	.	184
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.	332
HP:0000005	HP:0001428	Somatic mutation	2	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.	332
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous	.	332
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous	.	332
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FLG2 CL E G H	388698	33276	OMIM:618084	Peeling skin syndrome 6	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21	.	8
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000005	HP:0001417	X-linked inheritance	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26	.	197
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia	.	4
HP:0000005	HP:0010983	Oligogenic inheritance	2	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia		4
HP:0000005	HP:0001428	Somatic mutation	2	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	61
HP:0000005	HP:0010982	Polygenic inheritance	2	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid	.	61
HP:0000005	HP:0001428	Somatic mutation	2	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLT4 CL E G H	2324	3767	OMIM:602089	Hemangioma, capillary infantile	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47		44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0000005	HP:0001417	X-linked inheritance	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0000005	HP:0001417	X-linked inheritance	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000005	HP:0001417	X-linked inheritance	2	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1	.	30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXD3 CL E G H	27022	3804	OMIM:607836	Autoimmune disease, susceptibility to, 1	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.	23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3		92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0000005	HP:0001428	Somatic mutation	2	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1	.	143
HP:0000005	HP:0001417	X-linked inheritance	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2	.	198
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FREM2 CL E G H	341640	25396	OMIM:123570	Cryptophthalmos, unilateral or bilateral, isolated		263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000005	HP:0001417	X-linked inheritance	2	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked		38
HP:0000005	HP:0001417	X-linked inheritance	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FSIP2 CL E G H	401024	21675	OMIM:618153	Spermatogenic failure 34	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FTH1 CL E G H	2495	3976	OMIM:615517	Hemochromatosis, type 5	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FTL CL E G H	2512	3999	OMIM:600886	Hyperferritinemia with or without cataract		33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FTO CL E G H	79068	24678	OMIM:612460	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14		70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0000005	HP:0001417	X-linked inheritance	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia		105
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FUS CL E G H	2521	4010	OMIM:614782	TREMOR, HEREDITARY ESSENTIAL, 4; ETM4		105
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FYCO1 CL E G H	79443	14673	OMIM:610019	Cataract, autosomal recessive congenital 2	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0000005	HP:0001417	X-linked inheritance	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GAB1 CL E G H	2549	4066	OMIM:605428	Deafness, autosomal recessive 26	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2		44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRB3 CL E G H	2562	4083	OMIM:612269	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5		57
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GABRB3 CL E G H	2562	4083	OMIM:612269	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5		57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRD CL E G H	2563	4084	OMIM:613060	Epilepsy, idiopathic generalized, 10		10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.	139
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.	91
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33	.	9
HP:0000005	HP:0001417	X-linked inheritance	2	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0000005	HP:0001417	X-linked inheritance	2	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0000005	HP:0001417	X-linked inheritance	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0000005	HP:0001417	X-linked inheritance	2	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid	.	137
HP:0000005	HP:0001428	Somatic mutation	2	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid	.	137
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	.	137
HP:0000005	HP:0001428	Somatic mutation	2	GATA2 CL E G H	2624	4171	OMIM:614286	Myelodysplastic syndrome	.	137
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B	.	35
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV		86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	HP:0040283 - Occasional	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	237
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM		237
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	237
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GCK CL E G H	2645	4195	OMIM:125851	Maturity-onset diabetes of the young, type II	.	237
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0000005	HP:0001417	X-linked inheritance	2	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCNT2 CL E G H	2651	4204	OMIM:116700	Cataract 13 with adult i phenotype	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF3 CL E G H	9573	4218	OMIM:613704	Microphthalmia, isolated 7	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000005	HP:0010984	Digenic inheritance	2	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF5 CL E G H	8200	4220	OMIM:610017	Multiple synostoses syndrome 2		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17		64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000005	HP:0010984	Digenic inheritance	2	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4	.	64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GDNF CL E G H	2668	4232	OMIM:613711	Hirschsprung disease, susceptibility to, 3	.	59
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GH1 CL E G H	2688	4261	OMIM:612781	Growth hormone deficiency, isolated, type IB		50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GHR CL E G H	2690	4263	OMIM:604271	Growth hormone insensitivity, partial	.	98
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4		44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.	4
HP:0000005	HP:0010982	Polygenic inheritance	2	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15		40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0000005	HP:0010983	Oligogenic inheritance	2	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA1 CL E G H	2697	4274	OMIM:186100	Syndactyly, type III	.	68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA3 CL E G H	2700	4277	OMIM:601885	Cataract, zonular pulverulent 3	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA8 CL E G H	2703	4281	OMIM:116200	Cataract 1, multiple types	.	34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0000005	HP:0001417	X-linked inheritance	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB2 CL E G H	2706	4284	OMIM:601544	Deafness, autosomal dominant nonsyndromic sensorineural 3	.	199
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A	.	199
HP:0000005	HP:0010984	Digenic inheritance	2	GJB2 CL E G H	2706	4284	OMIM:220290	Deafness, autosomal recessive 1A		199
HP:0000005	HP:0001417	X-linked inheritance	2	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B	.	74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A	.	74
HP:0000005	HP:0010984	Digenic inheritance	2	GJB3 CL E G H	2707	4285	OMIM:220290	Deafness, autosomal recessive 1A		74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A	.	56
HP:0000005	HP:0010984	Digenic inheritance	2	GJB6 CL E G H	10804	4288	OMIM:220290	Deafness, autosomal recessive 1A		56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJB6 CL E G H	10804	4288	OMIM:612645	Deafness, autosomal recessive 1B	.	56
HP:0000005	HP:0001417	X-linked inheritance	2	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC	.	37
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0000005	HP:0001417	X-linked inheritance	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0000005	HP:0001417	X-linked inheritance	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLI1 CL E G H	2735	4317	OMIM:174400	Polydactyly, preaxial I	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLI3 CL E G H	2737	4319	OMIM:174200	Polydactyly, postaxial, type A1	.	270
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLI3 CL E G H	2737	4319	OMIM:174700	Polydactyly, preaxial IV	.	270
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLIS2 CL E G H	84662	29450	OMIM:611498	NEPHRONOPHTHISIS 7; NPHP7		83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	143
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLMN CL E G H	11146	14373	OMIM:138000	Glomuvenous malformations	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0000005	HP:0001417	X-linked inheritance	2	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.	34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.	36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple	.	7
HP:0000005	HP:0001428	Somatic mutation	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB		101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4		19
HP:0000005	HP:0001428	Somatic mutation	2	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	12
HP:0000005	HP:0010982	Polygenic inheritance	2	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.	12
HP:0000005	HP:0001428	Somatic mutation	2	GNB1 CL E G H	2782	4396	OMIM:614286	Myelodysplastic syndrome	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000005	HP:0025352	Typically de novo	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GP1BA CL E G H	2811	4439	OMIM:258660	Nonarteritic anterior ischemic optic neuropathy, susceptibility to	.	23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GP1BA CL E G H	2811	4439	OMIM:177820	Pseudo-Von willebrand disease	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000005	HP:0001417	X-linked inheritance	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1	.	73
HP:0000005	HP:0001428	Somatic mutation	2	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1	.	73
HP:0000005	HP:0001417	X-linked inheritance	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000005	HP:0001417	X-linked inheritance	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1	.
HP:0000005	HP:0001428	Somatic mutation	2	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3	.
HP:0000005	HP:0001417	X-linked inheritance	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0000005	HP:0001417	X-linked inheritance	2	GPR101 CL E G H	83550	14963	OMIM:300943	PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2		5
HP:0000005	HP:0001417	X-linked inheritance	2	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.	64
HP:0000005	HP:0001417	X-linked inheritance	2	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked		64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA	.	2
HP:0000005	HP:0001428	Somatic mutation	2	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA	.	2
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.	124
HP:0000005	HP:0001417	X-linked inheritance	2	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E		124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation		1
HP:0000005	HP:0001417	X-linked inheritance	2	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRAP CL E G H	10750	4562	OMIM:618456	Deafness, autosomal recessive 114	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GREM2 CL E G H	64388	17655	OMIM:617275	Tooth agenesis, selective, 9	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRHPR CL E G H	9380	4570	OMIM:260000	Hyperoxaluria, primary, type II	.	70
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0000005	HP:0001417	X-linked inheritance	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.	108
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.	274
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures	.	274
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRK1 CL E G H	6011	10013	OMIM:613411	OGUCHI DISEASE 2		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.	126
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRXCR1 CL E G H	389207	31673	OMIM:613285	Deafness, autosomal recessive 25	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GSDME CL E G H	1687	2810	OMIM:600994	Deafness, autosomal dominant nonsyndromic sensorineural 5	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GSS CL E G H	2937	4624	OMIM:231900	Glutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.	30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.	24
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GUCA1B CL E G H	2979	4679	OMIM:613827	RETINITIS PIGMENTOSA 48; RP48		36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1	.	124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0000005	HP:0003831	Typified by age-related penetrance	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle		52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.	100
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1	.	4
HP:0000005	HP:0001428	Somatic mutation	2	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1	.
HP:0000005	HP:0001428	Somatic mutation	2	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HABP2 CL E G H	3026	4798	OMIM:616535	Thyroid cancer, nonmedullary, 5	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.	99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBA1 CL E G H	3039	4823	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7		200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias	.	200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE		200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBA2 CL E G H	3040	4824	OMIM:617981	ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7		88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6		580
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	580
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias	.	580
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type	.	580
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	35
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	50
HP:0000005	HP:0001417	X-linked inheritance	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0000005	HP:0001417	X-linked inheritance	2	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10		54
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18		185
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	.	185
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000005	HP:0001428	Somatic mutation	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000005	HP:0001417	X-linked inheritance	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0000005	HP:0001417	X-linked inheritance	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HFM1 CL E G H	164045	20193	OMIM:615724	Premature ovarian failure 9	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.	148
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5		2
HP:0000005	HP:0001417	X-linked inheritance	2	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HMMR CL E G H	3161	5012	OMIM:114480	Breast cancer	.
HP:0000005	HP:0001428	Somatic mutation	2	HMMR CL E G H	3161	5012	OMIM:114480	Breast cancer	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	161
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial	.	161
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III	.	161
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNF4A CL E G H	3172	5024	OMIM:125850	Maturity-onset diabetes of the young, type 1	.	138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000005	HP:0001417	X-linked inheritance	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HOGA1 CL E G H	112817	25155	OMIM:613616	HYPEROXALURIA, PRIMARY, TYPE III; HP3		83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOMER2 CL E G H	9455	17513	OMIM:616707	DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXD10 CL E G H	3236	5133	OMIM:192950	Vertical talus, congenital	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D	.	25
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.	25
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPGD CL E G H	3248	5154	OMIM:119900	DIGITAL CLUBBING, ISOLATED CONGENITAL		55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0000005	HP:0001417	X-linked inheritance	2	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related		76
HP:0000005	HP:0001417	X-linked inheritance	2	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HR CL E G H	55806	5172	OMIM:209500	Atrichia with papular lesions	.	106
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HRAS CL E G H	3265	5173	OMIM:109800	Bladder cancer	.	113
HP:0000005	HP:0001428	Somatic mutation	2	HRAS CL E G H	3265	5173	OMIM:109800	Bladder cancer	.	113
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000005	HP:0001428	Somatic mutation	2	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0000005	HP:0001428	Somatic mutation	2	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	113
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	.	8
HP:0000005	HP:0001417	X-linked inheritance	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0000005	HP:0001417	X-linked inheritance	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSD17B3 CL E G H	3293	5212	OMIM:264300	Pseudohermaphroditism, male, with gynecomastia		31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSF4 CL E G H	3299	5227	OMIM:116800	Cataract, lamellar		38
HP:0000005	HP:0001450	Y-linked inheritance	2	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSPA9 CL E G H	3313	5244	OMIM:182170	ANEMIA, SIDEROBLASTIC, 4; SIDBA4		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent	.	2
HP:0000005	HP:0010982	Polygenic inheritance	2	HTR2A CL E G H	3356	5293	OMIM:608516	Major depressive disorder		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13		39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0000005	HP:0001417	X-linked inheritance	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0000005	HP:0001428	Somatic mutation	2	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0000005	HP:0001417	X-linked inheritance	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFNAR1 CL E G H	3454	5432	OMIM:619935
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFNAR2 CL E G H	3455	5433	OMIM:616669	Immunodeficiency 45	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IFNGR1 CL E G H	3459	5439	OMIM:615978	Immunodeficiency 27B	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFNGR2 CL E G H	3460	5440	OMIM:614889	Immunodeficiency 28	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.	148
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT43 CL E G H	112752	29669	OMIM:617871	Retinitis pigmentosa 81	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000005	HP:0001417	X-linked inheritance	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.	91
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0000005	HP:0001417	X-linked inheritance	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1	.	9
HP:0000005	HP:0001428	Somatic mutation	2	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000005	HP:0001428	Somatic mutation	2	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.	209
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0000005	HP:0001417	X-linked inheritance	2	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0000005	HP:0001417	X-linked inheritance	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0000005	HP:0001417	X-linked inheritance	2	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000005	HP:0001417	X-linked inheritance	2	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0000005	HP:0001417	X-linked inheritance	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL12B CL E G H	3593	5970	OMIM:614890	Immunodeficiency 29	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL12RB1 CL E G H	3594	5971	OMIM:614891	Immunodeficiency 30	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL17F CL E G H	112744	16404	OMIM:613956	CANDIDIASIS, FAMILIAL, 6; CANDF6		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000005	HP:0001428	Somatic mutation	2	IL1B CL E G H	3553	5992	OMIM:613659	Gastric cancer, somatic	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000005	HP:0001428	Somatic mutation	2	IL1RN CL E G H	3557	6000	OMIM:613659	Gastric cancer, somatic	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0000005	HP:0001417	X-linked inheritance	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0000005	HP:0001417	X-linked inheritance	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL31RA CL E G H	133396	18969	OMIM:613955	Amyloidosis, primary localized cutaneous, 2	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic	.	3
HP:0000005	HP:0001428	Somatic mutation	2	IL6 CL E G H	3569	6018	OMIM:108010	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42	.	42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ING1 CL E G H	3621	6062	OMIM:275355	Squamous cell carcinoma, head and neck	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome		111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INS CL E G H	3630	6081	OMIM:125852	Diabetes mellitus, insulin-dependent, 2	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia		62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10		62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INSL3 CL E G H	3640	6086	OMIM:219050	Cryptorchidism, unilateral or bilateral	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IQCE CL E G H	23288	29171	OMIM:617642	Polydactyly, postaxial, type A7	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000005	HP:0001417	X-linked inheritance	2	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0000005	HP:0001428	Somatic mutation	2	IRF1 CL E G H	3659	6116	OMIM:613659	Gastric cancer, somatic	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to	.	2
HP:0000005	HP:0001428	Somatic mutation	2	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF3 CL E G H	3661	6118	OMIM:616532	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to	.	99
HP:0000005	HP:0010982	Polygenic inheritance	2	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to	.	99
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.	99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IRF7 CL E G H	3665	6122	OMIM:616345	Immunodeficiency 39	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IRF9 CL E G H	10379	6131	OMIM:618648	IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0000005	HP:0001417	X-linked inheritance	2	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ISG15 CL E G H	9636	4053	OMIM:616126	Immunodeficiency 38 with basal ganglia calcification		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4	.	130
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.	257
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid	.	57
HP:0000005	HP:0001428	Somatic mutation	2	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid	.	57
HP:0000005	HP:0001428	Somatic mutation	2	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0000005	HP:0001428	Somatic mutation	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3	.	57
HP:0000005	HP:0001428	Somatic mutation	2	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E		111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.	111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12		222
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0000005	HP:0034338	Imprinted	2	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000005	HP:0001466	Contiguous gene syndrome	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KARS1 CL E G H	3735	6215	OMIM:613916	Deafness, autosomal recessive 89	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9	.	35
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.	148
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5	.	148
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNE3 CL E G H	10008	6243	OMIM:613119	BRUGADA SYNDROME 6; BRGDA6		73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2	.	901
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct	.	121
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.	121
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	127
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.	127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.	127
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13	.	127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9	.	193
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ2 CL E G H	3759	6263	OMIM:609622	SHORT QT SYNDROME 3; SQT3		193
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	.	128
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13	.	128
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNK18 CL E G H	338567	19439	OMIM:613656	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.	114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16		114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	.	114
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNMB1 CL E G H	3779	6285	OMIM:608622	HYPERTENSION, DIASTOLIC, RESISTANCE TO		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3	.	730
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1	.	730
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2		730
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.	528
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1	.	528
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ3 CL E G H	3786	6297	OMIM:121201	Epilepsy, benign neonatal, 2	.	302
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2	.	76
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	.	321
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.	73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000005	HP:0001450	Y-linked inheritance	2	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000005	HP:0001417	X-linked inheritance	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KDR CL E G H	3791	6307	OMIM:602089	Hemangioma, capillary infantile	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KHDC3L CL E G H	154288	33699	OMIM:614293	HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIAA0825 CL E G H	285600	28532	OMIM:618498	Polydactyly, postaxial, type A10	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.	276
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	.	276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0000005	HP:0001428	Somatic mutation	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.	93
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000005	HP:0001417	X-linked inheritance	2	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25	.	93
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25	.	93
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.	93
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid	.	327
HP:0000005	HP:0001428	Somatic mutation	2	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid	.	327
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait	.	327
HP:0000005	HP:0001428	Somatic mutation	2	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KITLG CL E G H	4254	6343	OMIM:616697	DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLF1 CL E G H	10661	6345	OMIM:111150	BLOOD GROUP--LUTHERAN INHIBITOR; INLU		42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7		78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000005	HP:0001428	Somatic mutation	2	KLF6 CL E G H	1316	2235	OMIM:613659	Gastric cancer, somatic	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLF6 CL E G H	1316	2235	OMIM:176807	Prostate cancer	.	18
HP:0000005	HP:0001428	Somatic mutation	2	KLF6 CL E G H	1316	2235	OMIM:176807	Prostate cancer	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLHL10 CL E G H	317719	18829	OMIM:615081	SPERMATOGENIC FAILURE 11; SPGF11		3
HP:0000005	HP:0001417	X-linked inheritance	2	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KLHL7 CL E G H	55975	15646	OMIM:612943	Retinitis pigmentosa 42	.	42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KLKB1 CL E G H	3818	6371	OMIM:612423	PREKALLIKREIN DEFICIENCY		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2	.	99
HP:0000005	HP:0025352	Typically de novo	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.	112
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:108010	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN		196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:109800	Bladder cancer	.	196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:109800	Bladder cancer	.	196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:114480	Breast cancer	.	196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:114480	Breast cancer	.	196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:613659	Gastric cancer, somatic	.	196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid	.	196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid	.	196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to	.	196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to	.	196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer	.	196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer	.	196
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0000005	HP:0001428	Somatic mutation	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.	92
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.	92
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT1 CL E G H	3848	6412	OMIM:146590	Ichthyosis hystrix, Curth-Macklin type	.	100
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT10 CL E G H	3858	6413	OMIM:146600	Ichthyosis hystrix gravior	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT14 CL E G H	3861	6416	OMIM:601001	Epidermolysis bullosa simplex, autosomal recessive 1	.	110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT14 CL E G H	3861	6416	OMIM:131800	Epidermolysis bullosa simplex, Weber-Cockayne type	.	110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.	110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1	.	27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1	.	27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT17 CL E G H	3872	6427	OMIM:184500	Steatocystoma multiplex	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT2 CL E G H	3849	6439	OMIM:146800	Ichthyosis, Bullous type	.	67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT25 CL E G H	147183	30839	OMIM:616760	Woolly hair, autosomal recessive 3		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT4 CL E G H	3851	6441	OMIM:193900	White sponge nevus 1	.	64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT5 CL E G H	3852	6442	OMIM:179850	Dowling-Degos disease	.	173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT5 CL E G H	3852	6442	OMIM:619588	EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B		173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.	173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	173
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0000005	HP:0001417	X-linked inheritance	2	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0000005	HP:0001417	X-linked inheritance	2	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0000005	HP:0001417	X-linked inheritance	2	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome		134
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0000005	HP:0001417	X-linked inheritance	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA3 CL E G H	3909	6483	OMIM:619783	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE; JEB2A		116
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj	.	279
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA5 CL E G H	3911	6485	OMIM:620049			5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities		92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMC2 CL E G H	3918	6493	OMIM:619785	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A		135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	.	114
HP:0000005	HP:0001417	X-linked inheritance	2	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease		211
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.	136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000005	HP:0001417	X-linked inheritance	2	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5		70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.	72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	.	286
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	HP:0040280 - Obligate	73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LEMD2 CL E G H	221496	21244	OMIM:212500	CATARACT 46, JUVENILE-ONSET; CTRCT46		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LHCGR CL E G H	3973	6585	OMIM:238320	Hypergonadotropic hypogonadism	.	67
HP:0000005	HP:0001470	Sex-limited expression	2	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LHFPL5 CL E G H	222662	21253	OMIM:610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67		93
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.	51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4		43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0000005	HP:0001428	Somatic mutation	2	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types		16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.	74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II		106
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV		106
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.	645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.	645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type	.	645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.	645
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LORICRIN CL E G H	4014	6663	OMIM:604117	Vohwinkel syndrome, variant form	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LOXHD1 CL E G H	125336	26521	OMIM:613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77		278
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.	95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0000005	HP:0001428	Somatic mutation	2	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.	62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.	62
HP:0000005	HP:0001417	X-linked inheritance	2	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa		62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0000005	HP:0010984	Digenic inheritance	2	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17	.	124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.	125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP5 CL E G H	4041	6697	OMIM:166710	OSTEOPOROSIS	.	125
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts		125
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts	.	125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63		78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTBP2 CL E G H	4053	6715	OMIM:613086	Glaucoma 3, primary congenital, D	.	123
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTBP2 CL E G H	4053	6715	OMIM:600975	Glaucoma 3, primary infantile, B	.	123
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	.	123
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	LZTR1 CL E G H	8216	6742	OMIM:615670	Schwannomatosis 2	.	43
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	LZTR1 CL E G H	8216	6742	OMIM:615670	Schwannomatosis 2	.	43
HP:0000005	HP:0001428	Somatic mutation	2	LZTS1 CL E G H	11178	13861	OMIM:133239	Esophageal cancer, somatic	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAD1L1 CL E G H	8379	6762	OMIM:176807	Prostate cancer	.	5
HP:0000005	HP:0001428	Somatic mutation	2	MAD1L1 CL E G H	8379	6762	OMIM:176807	Prostate cancer	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0000005	HP:0001417	X-linked inheritance	2	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	.	59
HP:0000005	HP:0001417	X-linked inheritance	2	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC		17
HP:0000005	HP:0001417	X-linked inheritance	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12	.	6
HP:0000005	HP:0001417	X-linked inheritance	2	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.	55
HP:0000005	HP:0001417	X-linked inheritance	2	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to	.
HP:0000005	HP:0001428	Somatic mutation	2	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000005	HP:0025352	Typically de novo	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency	.	41
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.	82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MBL2 CL E G H	4153	6922	OMIM:614372	Mannose-Binding lectin deficiency	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0000005	HP:0001417	X-linked inheritance	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0000005	HP:0001417	X-linked inheritance	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0000005	HP:0001417	X-linked inheritance	2	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX		22
HP:0000005	HP:0001417	X-linked inheritance	2	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20		54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20		54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.	6
HP:0000005	HP:0001428	Somatic mutation	2	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1	.	155
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0000005	HP:0001417	X-linked inheritance	2	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0000005	HP:0001417	X-linked inheritance	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations		950
HP:0000005	HP:0001417	X-linked inheritance	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000005	HP:0001417	X-linked inheritance	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000005	HP:0001417	X-linked inheritance	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0000005	HP:0001417	X-linked inheritance	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000005	HP:0001417	X-linked inheritance	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000005	HP:0001417	X-linked inheritance	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000005	HP:0001417	X-linked inheritance	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.	75
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MET CL E G H	4233	7029	OMIM:620019			375
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MET CL E G H	4233	7029	OMIM:616705	DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97		375
HP:0000005	HP:0001428	Somatic mutation	2	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma	.	375
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to	.	375
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MET CL E G H	4233	7029	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1		375
HP:0000005	HP:0001428	Somatic mutation	2	MET CL E G H	4233	7029	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1		375
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	MET CL E G H	4233	7029	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1		375
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	METTL13 CL E G H	51603	24248	OMIM:605429	DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF; DFNB26M
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.	203
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MFRP CL E G H	83552	18121	OMIM:609549	Nanophthalmos 2	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.	120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0000005	HP:0001417	X-linked inheritance	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000005	HP:0001417	X-linked inheritance	2	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0000005	HP:0001428	Somatic mutation	2	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MIP CL E G H	4284	7103	OMIM:615274	Cataract 15, multiple types	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MIR96 CL E G H	407053	31648	OMIM:613074	Deafness, autosomal dominant 50		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MITF CL E G H	4286	7105	OMIM:614456	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8		91
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.	91
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.	69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0000005	HP:0034338	Imprinted	2	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13		127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	112
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MLH1 CL E G H	4292	7127	OMIM:609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2		1819
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.	131
HP:0000005	HP:0001428	Somatic mutation	2	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.	131
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MLH3 CL E G H	27030	7128	OMIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7	.	131
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MLH3 CL E G H	27030	7128	OMIM:608089	Endometrial carcinoma, somatic	.	131
HP:0000005	HP:0001428	Somatic mutation	2	MLH3 CL E G H	27030	7128	OMIM:608089	Endometrial carcinoma, somatic	.	131
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid	.
HP:0000005	HP:0001428	Somatic mutation	2	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MN1 CL E G H	4330	7180	OMIM:607174	Meningioma, familial, susceptibility to	.	1
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	MN1 CL E G H	4330	7180	OMIM:607174	Meningioma, familial, susceptibility to	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.	97
HP:0000005	HP:0001428	Somatic mutation	2	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0000005	HP:0001428	Somatic mutation	2	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPO CL E G H	4353	7218	OMIM:254600	Myeloperoxidase deficiency	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2	.	26
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MRAP2 CL E G H	112609	21232	OMIM:615457	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSH2 CL E G H	4436	7325	OMIM:120435	Lynch syndrome I	.	2162
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSH3 CL E G H	4437	7326	OMIM:608089	Endometrial carcinoma, somatic	.	5
HP:0000005	HP:0001428	Somatic mutation	2	MSH3 CL E G H	4437	7326	OMIM:608089	Endometrial carcinoma, somatic	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5	.	2232
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5	.	2232
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSH6 CL E G H	2956	7329	OMIM:608089	Endometrial carcinoma, somatic	.	2232
HP:0000005	HP:0001428	Somatic mutation	2	MSH6 CL E G H	2956	7329	OMIM:608089	Endometrial carcinoma, somatic	.	2232
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0000005	HP:0001417	X-linked inheritance	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0000005	HP:0001417	X-linked inheritance	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0000005	HP:0001428	Somatic mutation	2	MSR1 CL E G H	4481	7376	OMIM:614266	Barrett esophagus	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSRB3 CL E G H	253827	27375	OMIM:613718	Deafness, autosomal recessive 74	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MST1R CL E G H	4486	7381	OMIM:617075	Nasopharyngeal carcinoma, susceptibility to, 3	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSX1 CL E G H	4487	7391	OMIM:608874	OROFACIAL CLEFT 5; OFC5		12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSX1 CL E G H	4487	7391	OMIM:106600	Tooth agenesis, selective, 1	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.	29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27	.	29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTHFD1 CL E G H	4522	7432	OMIM:601634	Neural tube defects, folate-sensitive	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity		183
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTHFR CL E G H	4524	7436	OMIM:601634	Neural tube defects, folate-sensitive	.	183
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA	.	183
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0000005	HP:0001417	X-linked inheritance	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.	39
HP:0000005	HP:0001428	Somatic mutation	2	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTR CL E G H	4548	7468	OMIM:601634	Neural tube defects, folate-sensitive	.	217
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTRR CL E G H	4552	7473	OMIM:601634	Neural tube defects, folate-sensitive	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1	.	81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2	.	592
HP:0000005	HP:0001428	Somatic mutation	2	MUTYH CL E G H	4595	7527	OMIM:613659	Gastric cancer, somatic	.	592
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MVD CL E G H	4597	7529	OMIM:614714	POROKERATOSIS 7, MULTIPLE TYPES; POROK7		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MVK CL E G H	4598	7530	OMIM:175900	Porokeratosis 3, multiple types	.	150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MXI1 CL E G H	4601	7534	OMIM:176807	Prostate cancer	.	4
HP:0000005	HP:0001428	Somatic mutation	2	MXI1 CL E G H	4601	7534	OMIM:176807	Prostate cancer	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYBPC1 CL E G H	4604	7549	OMIM:614335	Arthrogryposis, distal, type 1B	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4	.	66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10	.	1143
HP:0000005	HP:0001428	Somatic mutation	2	MYC CL E G H	4609	7553	OMIM:113970	Burkitt lymphoma	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000005	HP:0001428	Somatic mutation	2	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH14 CL E G H	79784	23212	OMIM:600652	Deafness, autosomal dominant nonsyndromic sensorineural 4	.	227
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.	227
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.	166
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3		452
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee		452
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	452
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14	.	452
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	.	1269
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	1269
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.	93
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT		93
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17	.	297
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7		326
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3	.	387
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO3A CL E G H	53904	7601	OMIM:607101	Deafness, autosomal recessive 30		168
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.	192
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYO6 CL E G H	4646	7605	OMIM:606346	Deafness, autosomal dominant 22	.	179
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37	.	179
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYO7A CL E G H	4647	7606	OMIM:601317	Deafness, autosomal dominant nonsyndromic sensorineural 11	.	516
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.	516
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.	516
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	.	81
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	.	217
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.	13
HP:0000005	HP:0001417	X-linked inheritance	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000005	HP:0001417	X-linked inheritance	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.	36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NANOS1 CL E G H	340719	23044	OMIM:615413	SPERMATOGENIC FAILURE 12; SPGF12		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NARS2 CL E G H	79731	26274	OMIM:618434	Deafness, autosomal recessive 94		34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0000005	HP:0001428	Somatic mutation	2	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	706
HP:0000005	HP:0010982	Polygenic inheritance	2	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	706
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial	.	5
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.	96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000005	HP:0001417	X-linked inheritance	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0000005	HP:0001417	X-linked inheritance	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.	27
HP:0000005	HP:0001417	X-linked inheritance	2	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.	91
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0000005	HP:0001417	X-linked inheritance	2	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3		3
HP:0000005	HP:0001417	X-linked inheritance	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0000005	HP:0001417	X-linked inheritance	2	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0000005	HP:0001427	Mitochondrial inheritance	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.	42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.	74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.	30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.	118
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0000005	HP:0010984	Digenic inheritance	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEK2 CL E G H	4751	7745	OMIM:615565	Retinitis pigmentosa 67	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9		43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0000005	HP:0001428	Somatic mutation	2	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEUROD1 CL E G H	4760	7762	OMIM:606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.	5
HP:0000005	HP:0001417	X-linked inheritance	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc	.	167
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20	.	167
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia	.	1952
HP:0000005	HP:0001428	Somatic mutation	2	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia	.	1952
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.	1952
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF2 CL E G H	4771	7773	OMIM:607174	Meningioma, familial, susceptibility to	.	220
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	NF2 CL E G H	4771	7773	OMIM:607174	Meningioma, familial, susceptibility to	.	220
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	.	220
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS	.	220
HP:0000005	HP:0001428	Somatic mutation	2	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS	.	220
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS	.	220
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.	27
HP:0000005	HP:0001417	X-linked inheritance	2	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes		88
HP:0000005	HP:0001417	X-linked inheritance	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000005	HP:0001417	X-linked inheritance	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary	.	51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1	.	51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.	90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	.	90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20	.	4
HP:0000005	HP:0001417	X-linked inheritance	2	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0000005	HP:0001417	X-linked inheritance	2	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.	24
HP:0000005	HP:0001417	X-linked inheritance	2	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0000005	HP:0001417	X-linked inheritance	2	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2		57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0000005	HP:0010982	Polygenic inheritance	2	NLRP1 CL E G H	22861	14374	OMIM:606579	Vitiligo-Associated multiple autoimmune disease susceptibility 1	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2	.	99
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1	.	171
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5	.	40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.	187
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOL3 CL E G H	8996	7869	OMIM:614937	Myoclonus, familial cortical	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	.	452
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.	144
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOTCH3 CL E G H	4854	7883	OMIM:615293	MYOFIBROMATOSIS, INFANTILE, 2; IMF2		144
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.	85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.	220
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.	220
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid	.	12
HP:0000005	HP:0001428	Somatic mutation	2	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.	53
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NPR2 CL E G H	4882	7944	OMIM:616255	Short stature with nonspecific skeletal abnormalities	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NPRL2 CL E G H	10641	24969	OMIM:617116	Epilepsy, familial focal, with variable foci 2	.	4
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	NPRL2 CL E G H	10641	24969	OMIM:617116	Epilepsy, familial focal, with variable foci 2	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NPRL3 CL E G H	8131	14124	OMIM:617118	Epilepsy, familial focal, with variable foci 3	.	7
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	NPRL3 CL E G H	8131	14124	OMIM:617118	Epilepsy, familial focal, with variable foci 3	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NQO2 CL E G H	4835	7856	OMIM:114480	Breast cancer	.
HP:0000005	HP:0001428	Somatic mutation	2	NQO2 CL E G H	4835	7856	OMIM:114480	Breast cancer	.
HP:0000005	HP:0001417	X-linked inheritance	2	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0000005	HP:0001417	X-linked inheritance	2	NR0B1 CL E G H	190	7960	OMIM:300018	Dosage-Sensitive sex reversal	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.	4
HP:0000005	HP:0010982	Polygenic inheritance	2	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.	79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy	.	109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0000005	HP:0001428	Somatic mutation	2	NR4A3 CL E G H	8013	7982	OMIM:612237	Chondrosarcoma, extraskeletal myxoid	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0000005	HP:0001470	Sex-limited expression	2	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000005	HP:0001470	Sex-limited expression	2	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NR5A1 CL E G H	2516	7983	OMIM:613957	Spermatogenic failure 8	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.	102
HP:0000005	HP:0001428	Somatic mutation	2	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.	102
HP:0000005	HP:0001428	Somatic mutation	2	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0000005	HP:0001428	Somatic mutation	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0000005	HP:0001428	Somatic mutation	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0000005	HP:0001428	Somatic mutation	2	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.	30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2		470
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0000005	HP:0001417	X-linked inheritance	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome		34
HP:0000005	HP:0001417	X-linked inheritance	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NT5C3A CL E G H	51251	17820	OMIM:266120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NTN1 CL E G H	9423	8029	OMIM:618264	MIRROR MOVEMENTS 4; MRMV4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.	89
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NUDT15 CL E G H	55270	23063	OMIM:616903	THIOPURINES, POOR METABOLISM OF, 2; THPM2		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0000005	HP:0001428	Somatic mutation	2	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP107 CL E G H	57122	29914	OMIM:618078	Ovarian dysgenesis 6	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.	1
HP:0000005	HP:0001428	Somatic mutation	2	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	1
HP:0000005	HP:0010982	Polygenic inheritance	2	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0000005	HP:0001428	Somatic mutation	2	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.	94
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2	.	143
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.	121
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0000005	HP:0001417	X-linked inheritance	2	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0000005	HP:0001417	X-linked inheritance	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000005	HP:0001417	X-linked inheritance	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000005	HP:0001417	X-linked inheritance	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0000005	HP:0001417	X-linked inheritance	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0000005	HP:0001417	X-linked inheritance	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000005	HP:0001417	X-linked inheritance	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III		163
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3		163
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer	.	5
HP:0000005	HP:0001428	Somatic mutation	2	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer	.	5
HP:0000005	HP:0001417	X-linked inheritance	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0000005	HP:0001417	X-linked inheritance	2	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy		7
HP:0000005	HP:0001417	X-linked inheritance	2	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0000005	HP:0001417	X-linked inheritance	2	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy		5
HP:0000005	HP:0001417	X-linked inheritance	2	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OPTN CL E G H	10133	17142	OMIM:137760	Glaucoma, primary open angle	.	62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OSBPL2 CL E G H	9885	15761	OMIM:616340	DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0000005	HP:0001417	X-linked inheritance	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OTOA CL E G H	146183	16378	OMIM:607039	Deafness, autosomal recessive 22	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B	.	165
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B	.	105
HP:0000005	HP:0001417	X-linked inheritance	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	.	41
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6	.	41
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	P2RX2 CL E G H	22953	15459	OMIM:608224	Deafness, autosomal dominant 41	.	23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	P4HA2 CL E G H	8974	8547	OMIM:617238	Myopia 25, autosomal dominant	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PADI6 CL E G H	353238	20449	OMIM:617234	Preimplantation embryonic lethality 2		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000005	HP:0001417	X-linked inheritance	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PALB2 CL E G H	79728	26144	OMIM:114480	Breast cancer	.	1349
HP:0000005	HP:0001428	Somatic mutation	2	PALB2 CL E G H	79728	26144	OMIM:114480	Breast cancer	.	1349
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PALLD CL E G H	23022	17068	OMIM:606856	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1		192
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.	20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.	26
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	.	39
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0000005	HP:0001428	Somatic mutation	2	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.	59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX4 CL E G H	5078	8618	OMIM:612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9		55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:120430	Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included	.	194
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.	194
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:148190	Keratitis, hereditary	.	194
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	.	194
HP:0000005	HP:0001428	Somatic mutation	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	.	194
HP:0000005	HP:0001466	Contiguous gene syndrome	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	.	194
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000005	HP:0001428	Somatic mutation	2	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	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:0000005	HP:0000007	Autosomal recessive inheritance	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23	.	352
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID	.	352
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF	.	352
HP:0000005	HP:0001417	X-linked inheritance	2	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.	225
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDCD10 CL E G H	11235	8761	OMIM:603285	Cerebral cavernous malformations 3	.	21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE1C CL E G H	5137	8776	OMIM:618140	Deafness, autosomal dominant 74	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE3A CL E G H	5139	8778	OMIM:112410	Hypertension and brachydactyly syndrome	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43		116
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE6B CL E G H	5158	8786	OMIM:163500	Night blindness, congenital stationary, autosomal dominant 2	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.	80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.	18
HP:0000005	HP:0001417	X-linked inheritance	2	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa		18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFB CL E G H	5155	8800	OMIM:607174	Meningioma, familial, susceptibility to	.	9
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PDGFB CL E G H	5155	8800	OMIM:607174	Meningioma, familial, susceptibility to	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRA CL E G H	5156	8803	OMIM:175510	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial		337
HP:0000005	HP:0001428	Somatic mutation	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.	2
HP:0000005	HP:0001428	Somatic mutation	2	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.	2
HP:0000005	HP:0001428	Somatic mutation	2	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD		37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0000005	HP:0001417	X-linked inheritance	2	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDLIM4 CL E G H	8572	16501	OMIM:166710	OSTEOPOROSIS	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4	.	30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDZD7 CL E G H	79955	26257	OMIM:618003	DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57		40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PER2 CL E G H	8864	8846	OMIM:604348	Advanced sleep phase syndrome, familial, 1	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PER3 CL E G H	8863	8847	OMIM:616882	Advanced sleep phase syndrome, familial, 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PERCC1 CL E G H	105371045	52293	OMIM:618662	DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.	169
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.	169
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.	75
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.	59
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.	98
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0000005	HP:0001417	X-linked inheritance	2	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PGR CL E G H	5241	8910	OMIM:264080	Progesterone resistance	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PHB1 CL E G H	5245	8912	OMIM:114480	Breast cancer	.
HP:0000005	HP:0001428	Somatic mutation	2	PHB1 CL E G H	5245	8912	OMIM:114480	Breast cancer	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PHC1 CL E G H	1911	3182	OMIM:615414	Microcephaly 11, primary, autosomal recessive	.	16
HP:0000005	HP:0001417	X-linked inheritance	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0000005	HP:0000006	Autosomal dominant inheritance	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:0000005	HP:0001417	X-linked inheritance	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0000005	HP:0001417	X-linked inheritance	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0000005	HP:0001417	X-linked inheritance	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0000005	HP:0001417	X-linked inheritance	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid	.	3
HP:0000005	HP:0001428	Somatic mutation	2	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000005	HP:0001417	X-linked inheritance	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000005	HP:0001417	X-linked inheritance	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0000005	HP:0001428	Somatic mutation	2	PIGA CL E G H	5277	8957	OMIM:300818	Paroxysmal nocturnal hemoglobinuria	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12
HP:0000005	HP:0001428	Somatic mutation	2	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3CA CL E G H	5290	8975	OMIM:114480	Breast cancer	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:114480	Breast cancer	.	162
HP:0000005	HP:0001428	Somatic mutation	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	.	162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3CA CL E G H	5290	8975	OMIM:619538	CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4		162
HP:0000005	HP:0025352	Typically de novo	2	PIK3CA CL E G H	5290	8975	OMIM:619538	CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4		162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.	162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:613659	Gastric cancer, somatic	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC		162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:155500	MACRODACTYLY	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer	.	162
HP:0000005	HP:0001428	Somatic mutation	2	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer	.	162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0000005	HP:0025352	Typically de novo	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PIKFYVE CL E G H	200576	23785	OMIM:121850	Corneal fleck dystrophy	.	112
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PIP5K1C CL E G H	23396	8996	OMIM:611369	Lethal congenital contracture syndrome 3		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.	135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	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:0000005	HP:0003829	Typified by incomplete penetrance	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:0000005	HP:0000006	Autosomal dominant inheritance	2	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea	.	51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PITX3 CL E G H	5309	9006	OMIM:107250	Anterior segment dysgenesis 1	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PJVK CL E G H	494513	29502	OMIM:610220	Deafness, autosomal recessive 59	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys	.	342
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PKLR CL E G H	5313	9020	OMIM:102900	Adenosine triphosphate, elevated, of erythrocytes	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.	406
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0001428	Somatic mutation	2	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLAG1 CL E G H	5324	9045	OMIM:181030	Salivary gland adenoma, pleomorphic	.	3
HP:0000005	HP:0001428	Somatic mutation	2	PLAG1 CL E G H	5324	9045	OMIM:181030	Salivary gland adenoma, pleomorphic	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12	.	119
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLCZ1 CL E G H	89869	19218	OMIM:617214	Spermatogenic failure 17	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy	.	759
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.	759
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type	.	759
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P		57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000005	HP:0001417	X-linked inheritance	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0000005	HP:0001417	X-linked inheritance	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PLS1 CL E G H	5357	9090	OMIM:618787	DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PMFBP1 CL E G H	83449	17728	OMIM:618112	SPERMATOGENIC FAILURE 31; SPGF31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS		79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.	79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMS1 CL E G H	5378	9121	OMIM:120435	Lynch syndrome I	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4	.	1121
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.	244
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	244
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.	3
HP:0000005	HP:0001417	X-linked inheritance	2	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000005	HP:0001470	Sex-limited expression	2	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POGLUT1 CL E G H	56983	22954	OMIM:615696	Dowling-Degos disease 4	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000005	HP:0001417	X-linked inheritance	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000005	HP:0001417	X-linked inheritance	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.	731
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.	1129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000005	HP:0025352	Typically de novo	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLR3F CL E G H	10621	15763	OMIM:619872
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.	27
HP:0000005	HP:0010982	Polygenic inheritance	2	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.	221
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase		76
HP:0000005	HP:0001417	X-linked inheritance	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10	.	23
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10	.	23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000005	HP:0001417	X-linked inheritance	2	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POU4F3 CL E G H	5459	9220	OMIM:602459	Deafness, autosomal dominant 15	.	29
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5	.	2
HP:0000005	HP:0001428	Somatic mutation	2	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPA2 CL E G H	27068	28883	OMIM:617223	Sudden cardiac failure, alcohol-induced	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	.	8
HP:0000005	HP:0010982	Polygenic inheritance	2	PPARG CL E G H	5468	9236	OMIM:609338	CAROTID INTIMAL MEDIAL THICKNESS 1		42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.	42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.	42
HP:0000005	HP:0010982	Polygenic inheritance	2	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.	42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPIP5K2 CL E G H	23262	29035	OMIM:618422	Deafness, autosomal recessive 100	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPM1D CL E G H	8493	9277	OMIM:114480	Breast cancer	.	22
HP:0000005	HP:0001428	Somatic mutation	2	PPM1D CL E G H	8493	9277	OMIM:114480	Breast cancer	.	22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.	41
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to	.	1
HP:0000005	HP:0001428	Somatic mutation	2	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0000005	HP:0001417	X-linked inheritance	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRCC CL E G H	5546	9343	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0000005	HP:0001428	Somatic mutation	2	PRCC CL E G H	5546	9343	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PRCC CL E G H	5546	9343	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36		39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8	.	148
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRDM6 CL E G H	93166	9350	OMIM:617039	Patent ductus arteriosus 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRDX3 CL E G H	10935	9354	OMIM:619871
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0000005	HP:0001417	X-linked inheritance	2	PRICKLE3 CL E G H	4007	6645	OMIM:308905	Leber optic atrophy, susceptibility to	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.	235
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to	.	138
HP:0000005	HP:0001428	Somatic mutation	2	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to	.	138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer	.	138
HP:0000005	HP:0001428	Somatic mutation	2	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer	.	138
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.	69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features	.	69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRODH CL E G H	5625	9453	OMIM:600850	Schizophrenia 4	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4	.	110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPF4 CL E G H	9128	17349	OMIM:615922	Retinitis pigmentosa 70	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60	.	51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	.	94
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2	.	159
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.	159
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.	159
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	.	159
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	159
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7		159
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.	159
HP:0000005	HP:0001417	X-linked inheritance	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0000005	HP:0001417	X-linked inheritance	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0000005	HP:0001417	X-linked inheritance	2	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1		49
HP:0000005	HP:0001417	X-linked inheritance	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRRT2 CL E G H	112476	30500	OMIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1	.	94
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2	.	94
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2	.	94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.	73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0000005	HP:0001450	Y-linked inheritance	2	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0001450	Y-linked inheritance	2	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U	.	241
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V	.	59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMB1 CL E G H	5689	9537	OMIM:620038			2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA	.	40
HP:0000005	HP:0001428	Somatic mutation	2	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA	.	40
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA	.	40
HP:0000005	HP:0001417	X-linked inheritance	2	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.	948
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTEN CL E G H	5728	9588	OMIM:607174	Meningioma, familial, susceptibility to	.	948
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PTEN CL E G H	5728	9588	OMIM:607174	Meningioma, familial, susceptibility to	.	948
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTEN CL E G H	5728	9588	OMIM:176807	Prostate cancer	.	948
HP:0000005	HP:0001428	Somatic mutation	2	PTEN CL E G H	5728	9588	OMIM:176807	Prostate cancer	.	948
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTH1R CL E G H	5745	9608	OMIM:125350	Dental noneruption	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia	.	291
HP:0000005	HP:0001428	Somatic mutation	2	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia	.	291
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPN11 CL E G H	5781	9644	OMIM:156250	METACHONDROMATOSIS	.	291
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0001428	Somatic mutation	2	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.	3
HP:0000005	HP:0001428	Somatic mutation	2	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PTPRQ CL E G H	374462	9679	OMIM:617663	Deafness, autosomal dominant 73	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47		1
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	QRICH2 CL E G H	84074	25326	OMIM:618341	Spermatogenic failure 35	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0000005	HP:0001417	X-linked inheritance	2	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72		34
HP:0000005	HP:0001417	X-linked inheritance	2	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAD51 CL E G H	5888	9817	OMIM:114480	Breast cancer	.	9
HP:0000005	HP:0001428	Somatic mutation	2	RAD51 CL E G H	5888	9817	OMIM:114480	Breast cancer	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAD51 CL E G H	5888	9817	OMIM:614508	Mirror movements 2	.	9
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	RAD51 CL E G H	5888	9817	OMIM:614508	Mirror movements 2		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.	2
HP:0000005	HP:0001428	Somatic mutation	2	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAD54L CL E G H	8438	9826	OMIM:114480	Breast cancer	.	5
HP:0000005	HP:0001428	Somatic mutation	2	RAD54L CL E G H	8438	9826	OMIM:114480	Breast cancer	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn	.	212
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000006	Autosomal dominant inheritance	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAPGEF2 CL E G H	9693	16854	OMIM:618075	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.	73
HP:0000005	HP:0001428	Somatic mutation	2	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RASA1 CL E G H	5921	9871	OMIM:608354	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1		88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAX CL E G H	30062	18662	OMIM:611038	Microphthalmia, isolated 3	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11		52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RB1 CL E G H	5925	9884	OMIM:109800	Bladder cancer	.	365
HP:0000005	HP:0001428	Somatic mutation	2	RB1 CL E G H	5925	9884	OMIM:109800	Bladder cancer	.	365
HP:0000005	HP:0001428	Somatic mutation	2	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma	.	365
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0000005	HP:0001428	Somatic mutation	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RB1 CL E G H	5925	9884	OMIM:182280	Small cell cancer of the lung	.	365
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RB1CC1 CL E G H	9821	15574	OMIM:114480	Breast cancer	.	2
HP:0000005	HP:0001428	Somatic mutation	2	RB1CC1 CL E G H	9821	15574	OMIM:114480	Breast cancer	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000005	HP:0001417	X-linked inheritance	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19	.	2
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd	.	363
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0000005	HP:0001417	X-linked inheritance	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000005	HP:0001450	Y-linked inheritance	2	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.	108
HP:0000005	HP:0001417	X-linked inheritance	2	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa		108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.	108
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.	95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24	.	97
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RELA CL E G H	5970	9955	OMIM:618287	MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RELN CL E G H	5649	9957	OMIM:616436	EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7		334
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	RELN CL E G H	5649	9957	OMIM:616436	EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7		334
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	REST CL E G H	5978	9966	OMIM:612431	DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1	.	572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary	.	572
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RGS9 CL E G H	8787	10004	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RGS9BP CL E G H	388531	30304	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer	.	80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.	107
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.	107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1		107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.	107
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.	107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.	69
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RIPPLY2 CL E G H	134701	21390	OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD		47
HP:0000005	HP:0001417	X-linked inheritance	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RNASEL CL E G H	6041	10050	OMIM:601518	Prostate cancer, hereditary, 1	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	.	37
HP:0000005	HP:0001417	X-linked inheritance	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RNF43 CL E G H	54894	18505	OMIM:617108	Sessile serrated polyposis cancer syndrome	.	5
HP:0000005	HP:0001428	Somatic mutation	2	RNF6 CL E G H	6049	10069	OMIM:133239	Esophageal cancer, somatic	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.	38
HP:0000005	HP:0001417	X-linked inheritance	2	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa		38
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7		38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.	38
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.	3
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RORC CL E G H	6097	10260	OMIM:616622	Immunodeficiency 42	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.	111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.	111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD		284
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0000005	HP:0001417	X-linked inheritance	2	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.	129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.	129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87		129
HP:0000005	HP:0001417	X-linked inheritance	2	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0000005	HP:0001417	X-linked inheritance	2	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC		200
HP:0000005	HP:0001417	X-linked inheritance	2	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0000005	HP:0001417	X-linked inheritance	2	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13		109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.	109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.	167
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency	.	18
HP:0000005	HP:0001417	X-linked inheritance	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL21 CL E G H	6144	10313	OMIM:615885	Hypotrichosis 12	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9	.	26
HP:0000005	HP:0001428	Somatic mutation	2	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0000005	HP:0001466	Contiguous gene syndrome	2	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS27 CL E G H	6232	10416	OMIM:617409	DIAMOND-BLACKFAN ANEMIA 17; DBA17		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13	.	3
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13	.	3
HP:0000005	HP:0001450	Y-linked inheritance	2	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000005	HP:0001417	X-linked inheritance	2	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000005	HP:0001417	X-linked inheritance	2	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.	125
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0000005	HP:0001417	X-linked inheritance	2	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPO4 CL E G H	343637	16175	OMIM:206800	Anonychia congenita	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid	.	181
HP:0000005	HP:0001428	Somatic mutation	2	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid	.	181
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RXYLT1 CL E G H	10329	13530	OMIM:615041	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.	1200
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2	.	1103
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SAMHD1 CL E G H	25939	15925	OMIM:614415	Chilblain lupus 2	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCD5 CL E G H	79966	21088	OMIM:619086	DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN10A CL E G H	6336	10582	OMIM:615551	EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2		146
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN11A CL E G H	11280	10583	OMIM:615552	Episodic pain syndrome, familial, 3	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3	.	1053
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13	.	126
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN1B CL E G H	6324	10586	OMIM:612838	BRUGADA SYNDROME 5; BRGDA5		126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.	126
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1	.	126
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1	.	126
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.	427
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9		427
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3	.	427
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4	.	70
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7	.	122
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	263
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2	.	263
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10	.	1134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1		1134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3	.	1134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome	.	1134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	.	357
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.	357
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN8A CL E G H	6334	10596	OMIM:618364	MYOCLONUS, FAMILIAL, 2; MYOCL2		357
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN8A CL E G H	6334	10596	OMIM:617080	Seizures, benign familial infantile, 5	.	357
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.	318
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3	.	67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCNN1G CL E G H	6340	10602	OMIM:613071	Bronchiectasis with or without elevated sweat chloride 3	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SCO2 CL E G H	9997	10604	OMIM:608908	Myopia 6	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.	2
HP:0000005	HP:0010982	Polygenic inheritance	2	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7		61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg	.	304
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHA CL E G H	6389	10680	OMIM:614165	PARAGANGLIOMAS 5; PGL5		304
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2	.	137
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0000005	HP:0025352	Typically de novo	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEPTIN12 CL E G H	124404	26348	OMIM:614822	Spermatogenic failure 10	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINB6 CL E G H	5269	8950	OMIM:613453	Deafness, autosomal recessive 91	.	29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINB8 CL E G H	5271	8952	OMIM:617115	Peeling skin syndrome 5	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SERPINE1 CL E G H	5054	8583	OMIM:613329	Plasminogen activator inhibitor-1 deficiency	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINE1 CL E G H	5054	8583	OMIM:613329	Plasminogen activator inhibitor-1 deficiency	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI	.	35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINF2 CL E G H	5345	9075	OMIM:262850	Plasmin inhibitor deficiency	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SERPING1 CL E G H	710	1228	OMIM:120790	Complement component 4, partial deficiency of	.	64
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0000005	HP:0010982	Polygenic inheritance	2	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0000005	HP:0001428	Somatic mutation	2	SF3B1 CL E G H	23451	10768	OMIM:614286	Myelodysplastic syndrome	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0000005	HP:0001428	Somatic mutation	2	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		4
HP:0000005	HP:0001417	X-linked inheritance	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid	.
HP:0000005	HP:0001428	Somatic mutation	2	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid	.
HP:0000005	HP:0001417	X-linked inheritance	2	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SH3TC2 CL E G H	79628	29427	OMIM:613353	Mononeuropathy of the median nerve, mild	.	493
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15	.	53
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5		67
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor	.	67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis	.	66
HP:0000005	HP:0001417	X-linked inheritance	2	SHOX CL E G H	6473	10853	OMIM:300582	SHORT STATURE, IDIOPATHIC, X-LINKED; ISS		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SHQ1 CL E G H	55164	25543	OMIM:619921
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital		98
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SIPA1L3 CL E G H	23094	23801	OMIM:616851	CATARACT 45; CTRCT45		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14	.	8
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.	73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.	74
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC16A12 CL E G H	387700	23094	OMIM:612018	CATARACT 47; CTRCT47		5
HP:0000005	HP:0001417	X-linked inheritance	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.	78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC17A8 CL E G H	246213	20151	OMIM:605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25		64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria		71
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC22A18 CL E G H	5002	10964	OMIM:114480	Breast cancer	.	3
HP:0000005	HP:0001428	Somatic mutation	2	SLC22A18 CL E G H	5002	10964	OMIM:114480	Breast cancer	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to	.	3
HP:0000005	HP:0001428	Somatic mutation	2	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC25A11 CL E G H	8402	10981	OMIM:618464	PARAGANGLIOMAS 6; PGL6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.	36
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.	166
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A32 CL E G H	81034	29683	OMIM:616839	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.	68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.	68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct	.	274
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.	274
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC26A5 CL E G H	375611	9359	OMIM:613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61		49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12	.	255
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12	.	255
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	HP:0040283 - Occasional	255
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2		57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC2A9 CL E G H	56606	13446	OMIM:612076	Hypouricemia, renal, 2	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC30A2 CL E G H	7780	11013	OMIM:608118	Zinc deficiency, transient neonatal		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0000005	HP:0001417	X-linked inheritance	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC36A2 CL E G H	153201	18762	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.	11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC3A1 CL E G H	6519	11025	OMIM:220100	CYSTINURIA	.	55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC3A1 CL E G H	6519	11025	OMIM:220100	CYSTINURIA	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS	.	109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC4A1 CL E G H	6521	11027	OMIM:166900	Ovalocytosis, hereditary hemolytic	.	109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.	109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.	109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC4A11 CL E G H	83959	16438	OMIM:217700	CORNEAL ENDOTHELIAL DYSTROPHY; CHED		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy	.	29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC6A19 CL E G H	340024	27960	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC6A20 CL E G H	54716	30927	OMIM:138500	Glycinuria with or without oxalate urolithiasis	.	96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA	.	96
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3	.	81
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3	.	81
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000005	HP:0001417	X-linked inheritance	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLC7A9 CL E G H	11136	11067	OMIM:220100	CYSTINURIA	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC7A9 CL E G H	11136	11067	OMIM:220100	CYSTINURIA	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital		7
HP:0000005	HP:0001417	X-linked inheritance	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0000005	HP:0001417	X-linked inheritance	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0000005	HP:0010984	Digenic inheritance	2	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		52
HP:0000005	HP:0010984	Digenic inheritance	2	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.	274
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome	.	504
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	.	504
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer	.	504
HP:0000005	HP:0001428	Somatic mutation	2	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer	.	504
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7	.	33
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCA4 CL E G H	6597	11100	OMIM:613325	Rhabdoid tumor predisposition syndrome 2	.	617
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCAD1 CL E G H	56916	18398	OMIM:136000	Fingerprints, absence of	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCB1 CL E G H	6598	11103	OMIM:609322	Rhabdoid tumor predisposition syndrome 1	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS	.	87
HP:0000005	HP:0001428	Somatic mutation	2	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS	.	87
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS	.	87
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMARCE1 CL E G H	6605	11109	OMIM:607174	Meningioma, familial, susceptibility to	.	47
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SMARCE1 CL E G H	6605	11109	OMIM:607174	Meningioma, familial, susceptibility to	.	47
HP:0000005	HP:0001417	X-linked inheritance	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0000005	HP:0001417	X-linked inheritance	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000005	HP:0010984	Digenic inheritance	2	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000005	HP:0001417	X-linked inheritance	2	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4		12
HP:0000005	HP:0001417	X-linked inheritance	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0000005	HP:0001417	X-linked inheritance	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNORA31 CL E G H	677814	32621	OMIM:619396	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33		83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.	29
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOHLH1 CL E G H	402381	27845	OMIM:618115	Spermatogenic failure 32	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1	.	315
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0000005	HP:0001417	X-linked inheritance	2	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency		24
HP:0000005	HP:0001417	X-linked inheritance	2	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked	.	24
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency	.	49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SP6 CL E G H	80320	14530	OMIM:620104
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0000005	HP:0003743	Genetic anticipation	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPATA16 CL E G H	83893	29935	OMIM:102530	SPERMATOGENIC FAILURE 6; SPGF6		31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3		48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	.	287
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPINK2 CL E G H	6691	11245	OMIM:618091	Spermatogenic failure 29	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPNS2 CL E G H	124976	26992	OMIM:618457	Deafness, autosomal recessive 115	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPPL2A CL E G H	84888	30227	OMIM:619549	IMMUNODEFICIENCY 86; IMD86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPTA1 CL E G H	6708	11272	OMIM:266140	Pyropoikilocytosis, hereditary	.	228
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPTA1 CL E G H	6708	11272	OMIM:270970	Spherocytosis, autosomal recessive	.	228
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3		156
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.	149
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.	62
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.	15
HP:0000005	HP:0001428	Somatic mutation	2	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.	15
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0000005	HP:0032382	Uniparental disomy	2	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0000005	HP:0001428	Somatic mutation	2	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1	.	68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia		50
HP:0000005	HP:0001417	X-linked inheritance	2	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0000005	HP:0001450	Y-linked inheritance	2	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SSBP1 CL E G H	6742	11317	OMIM:165510	Optic atrophy with negative electroretinograms	.
HP:0000005	HP:0001417	X-linked inheritance	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000005	HP:0001428	Somatic mutation	2	SSX1 CL E G H	6756	11335	OMIM:300813	Sarcoma, synovial	.
HP:0000005	HP:0001428	Somatic mutation	2	SSX2 CL E G H	6757	11336	OMIM:300813	Sarcoma, synovial	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ST3GAL3 CL E G H	6487	10866	OMIM:611090	Mental retardation, autosomal recessive 12	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.	9
HP:0000005	HP:0001417	X-linked inheritance	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000005	HP:0001417	X-linked inheritance	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STAT1 CL E G H	6772	11362	OMIM:614892	Immunodeficiency 31A	.	89
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	STAT1 CL E G H	6772	11362	OMIM:614892	Immunodeficiency 31A	.	89
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAT1 CL E G H	6772	11362	OMIM:613796	Mycobacterial and viral infections, susceptibility to, autosomal recessive	.	89
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive	.	99
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.	740
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer	.	740
HP:0000005	HP:0001428	Somatic mutation	2	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer	.	740
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0000005	HP:0001428	Somatic mutation	2	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0000005	HP:0010982	Polygenic inheritance	2	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STRC CL E G H	161497	16035	OMIM:603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16		78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility	.	78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7	.	78
HP:0000005	HP:0001417	X-linked inheritance	2	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB		86
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA	.	124
HP:0000005	HP:0001428	Somatic mutation	2	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA	.	124
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA	.	124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SUFU CL E G H	51684	16466	OMIM:607174	Meningioma, familial, susceptibility to	.	124
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	SUFU CL E G H	51684	16466	OMIM:607174	Meningioma, familial, susceptibility to	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUN5 CL E G H	140732	16252	OMIM:617187	Spermatogenic failure 16	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K		73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0000005	HP:0001427	Mitochondrial inheritance	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYCE1 CL E G H	93426	28852	OMIM:616947	PREMATURE OVARIAN FAILURE 12; POF12		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0000005	HP:0001417	X-linked inheritance	2	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders		58
HP:0000005	HP:0001417	X-linked inheritance	2	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.	1129
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	.	508
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYNE4 CL E G H	163183	26703	OMIM:615540	Deafness, autosomal recessive 76	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0000005	HP:0001417	X-linked inheritance	2	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96		28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.	123
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.	42
HP:0000005	HP:0001417	X-linked inheritance	2	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked		21
HP:0000005	HP:0001417	X-linked inheritance	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.	2
HP:0000005	HP:0001428	Somatic mutation	2	TAF15 CL E G H	8148	11547	OMIM:612237	Chondrosarcoma, extraskeletal myxoid	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000005	HP:0001417	X-linked inheritance	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0000005	HP:0001428	Somatic mutation	2	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0000005	HP:0010982	Polygenic inheritance	2	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0000005	HP:0001428	Somatic mutation	2	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0000005	HP:0010982	Polygenic inheritance	2	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65	.	271
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D24 CL E G H	57465	29203	OMIM:614617	Deafness, autosomal recessive 86	.	271
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.	271
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.	271
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile	.	271
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0000005	HP:0001417	X-linked inheritance	2	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.	20
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0000005	HP:0001417	X-linked inheritance	2	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000005	HP:0001450	Y-linked inheritance	2	TBL1Y CL E G H	90665	18502	OMIM:400047	DEAFNESS, Y-LINKED 2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0000005	HP:0001417	X-linked inheritance	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.	28
HP:0000005	HP:0001417	X-linked inheritance	2	TBX22 CL E G H	50945	11600	OMIM:303400	Cleft palate, X-linked	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBX4 CL E G H	9496	11603	OMIM:601360	Amelia, autosomal recessive	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5		19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.	19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TBXT CL E G H	6862	11515	OMIM:615709	Sacral agenesis with vertebral anomalies	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25	.	78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	.	28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCF4 CL E G H	6925	11634	OMIM:613267	Corneal dystrophy, fuchs endothelial, 3	.	241
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.	76
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.	52
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TDRD7 CL E G H	23424	30831	OMIM:613887	Cataract, autosomal recessive congenital 4	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TDRD9 CL E G H	122402	20122	OMIM:618110	Spermatogenic failure 30	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14	.	17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TECTA CL E G H	7007	11720	OMIM:601543	Deafness, autosomal dominant nonsyndromic sensorineural 12	.	222
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TECTA CL E G H	7007	11720	OMIM:603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21		222
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TEK CL E G H	7010	11724	OMIM:617272	Glaucoma 3, primary congenital, E	.	78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TEK CL E G H	7010	11724	OMIM:600975	Glaucoma 3, primary infantile, B	.	78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TEK CL E G H	7010	11724	OMIM:600195	Venous malformations, multiple cutaneous and mucosal	.	78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	.	5
HP:0000005	HP:0003831	Typified by age-related penetrance	2	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0000005	HP:0003743	Genetic anticipation	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid	.	238
HP:0000005	HP:0001428	Somatic mutation	2	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid	.	238
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERT CL E G H	7015	11730	OMIM:615134	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9		238
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0000005	HP:0001428	Somatic mutation	2	TET2 CL E G H	54790	25941	OMIM:614286	Myelodysplastic syndrome	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000005	HP:0001417	X-linked inheritance	2	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TEX14 CL E G H	56155	11737	OMIM:617707	Spermatogenic failure 23	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TFAP2B CL E G H	7021	11743	OMIM:617035	Patent ductus arteriosus 2	.	104
HP:0000005	HP:0001417	X-linked inheritance	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000005	HP:0001428	Somatic mutation	2	TFE3 CL E G H	7030	11752	OMIM:300854	Renal cell carcinoma, xp11-associated	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.	155
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1	.	85
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy	.	58
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBR1 CL E G H	7046	11772	OMIM:132800	Multiple self-healing squamous epithelioma	.	239
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBR2 CL E G H	7048	11773	OMIM:614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6		253
HP:0000005	HP:0001428	Somatic mutation	2	TGFBR2 CL E G H	7048	11773	OMIM:133239	Esophageal cancer, somatic	.	253
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.	42
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000005	HP:0001417	X-linked inheritance	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	.	161
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.	161
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THRB CL E G H	7068	11799	OMIM:145650	Thyroid hormone resistance, selective pituitary	.	161
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TICAM1 CL E G H	148022	18348	OMIM:614850	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TICAM1 CL E G H	148022	18348	OMIM:614850	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6	.	6
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TICAM1 CL E G H	148022	18348	OMIM:614850	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TIMELESS CL E G H	8914	11813	OMIM:620015
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy	.	95
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TLE6 CL E G H	79816	30788	OMIM:616814	Preimplantation embryonic lethality 1	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.	5
HP:0000005	HP:0001428	Somatic mutation	2	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TLR2 CL E G H	7097	11848	OMIM:246300	Leprosy, susceptibility to	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0000005	HP:0001417	X-linked inheritance	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0000005	HP:0001417	X-linked inheritance	2	TLR7 CL E G H	51284	15631	OMIM:301051	IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74
HP:0000005	HP:0001417	X-linked inheritance	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5		3
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMC1 CL E G H	117531	16513	OMIM:606705	Deafness, autosomal dominant 36	.	109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7		109
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMC6 CL E G H	11322	18021	OMIM:226400	Epidermodysplasia verruciformis, susceptibility to, 1	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMC8 CL E G H	147138	20474	OMIM:618231	EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV2		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy		23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM132E CL E G H	124842	26991	OMIM:618481	DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040282 - Frequent	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11	.	33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3		171
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.	171
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.	166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMIE CL E G H	259236	30800	OMIM:600971	Deafness, autosomal recessive 6	.	39
HP:0000005	HP:0001417	X-linked inheritance	2	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6		10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8		111
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA		65
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNC CL E G H	3371	5318	OMIM:615629	Deafness, autosomal dominant 56	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFRSF10B CL E G H	8795	11905	OMIM:275355	Squamous cell carcinoma, head and neck	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.	73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A	.	180
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7	.	180
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1		180
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	.	248
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2	.	248
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNT2 CL E G H	7139	11949	OMIM:612422	Cardiomyopathy, familial restrictive, 3	.	248
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.	43
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNRC6A CL E G H	27327	11969	OMIM:618074	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31		61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.	47
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric	.	911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:614740	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7		911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.	911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:114480	Breast cancer	.	911
HP:0000005	HP:0001428	Somatic mutation	2	TP53 CL E G H	7157	11998	OMIM:114480	Breast cancer	.	911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer	.	911
HP:0000005	HP:0001428	Somatic mutation	2	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer	.	911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0000005	HP:0001428	Somatic mutation	2	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0000005	HP:0001428	Somatic mutation	2	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma	.	911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0000005	HP:0010982	Polygenic inheritance	2	TP53 CL E G H	7157	11998	OMIM:607107	Nasopharyngeal carcinoma	.	911
HP:0000005	HP:0001428	Somatic mutation	2	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma	.	911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer	.	911
HP:0000005	HP:0001428	Somatic mutation	2	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer	.	911
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus	.	911
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TP63 CL E G H	8626	15979	OMIM:605289	Split-Hand/foot malformation 4		140
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPH2 CL E G H	121278	20692	OMIM:613003	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7		31
HP:0000005	HP:0010982	Polygenic inheritance	2	TPH2 CL E G H	121278	20692	OMIM:608516	Major depressive disorder		31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.	28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y	.	230
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3	.	230
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPMT CL E G H	7172	12014	OMIM:610460	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	.	51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A	.	92
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.	203
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.	32
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0000005	HP:0001417	X-linked inheritance	2	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.	56
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIM36 CL E G H	55521	16280	OMIM:206500	ANENCEPHALY; ANPH		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28	.	154
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.	4
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRMU CL E G H	55687	25481	OMIM:580000	Deafness, aminoglycoside-induced	.	101
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNS1 CL E G H	4574	7497	OMIM:580000	Deafness, aminoglycoside-induced	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0001427	Mitochondrial inheritance	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2	.	107
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C		104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6		124
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB	.	124
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.	151
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2	.	151
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type	.	214
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRRAP CL E G H	8295	12347	OMIM:618778	DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000005	HP:0001428	Somatic mutation	2	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0000005	HP:0001428	Somatic mutation	2	TSC1 CL E G H	7248	12362	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	1090
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0000005	HP:0001428	Somatic mutation	2	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0000005	HP:0001428	Somatic mutation	2	TSC2 CL E G H	7249	12363	OMIM:606690	LYMPHANGIOLEIOMYOMATOSIS	.	2738
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5	.	102
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSGA10 CL E G H	80705	14927	OMIM:617961	Spermatogenic failure 26	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSHR CL E G H	7253	12373	OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	.	97
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	.	39
HP:0000005	HP:0001417	X-linked inheritance	2	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58		26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSPEAR CL E G H	54084	1268	OMIM:614861	Deafness, autosomal recessive 98	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	.	39
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0000005	HP:0001417	X-linked inheritance	2	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.	57
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12	.	132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12		132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.	132
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC29 CL E G H	83894	29936	OMIM:618745	SPERMATOGENIC FAILURE 42; SPGF42
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.	26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19	.	9
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9		7128
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.	7128
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TTR CL E G H	7276	12405	OMIM:115430	Carpal tunnel syndrome	.	107
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBA8 CL E G H	51807	12410	OMIM:619840			21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related	.	3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	.	23
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.	64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.	64
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.	66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.	61
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7	.	76
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5		113
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0000005	HP:0010984	Digenic inheritance	2	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.	146
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III	.	62
HP:0000005	HP:0001417	X-linked inheritance	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0000005	HP:0001444	Autosomal dominant somatic cell mutation	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0000005	HP:0001417	X-linked inheritance	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UBIAD1 CL E G H	29914	30791	OMIM:121800	Corneal dystrophy, crystalline, of schnyder	.	69
HP:0000005	HP:0001417	X-linked inheritance	2	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia		20
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.	6
HP:0000005	HP:0010982	Polygenic inheritance	2	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II	.	73
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal	.	73
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UNC45B CL E G H	146862	14304	OMIM:616279	Cataract 43	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UNC93B1 CL E G H	81622	13481	OMIM:610551	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44
HP:0000005	HP:0001417	X-linked inheritance	2	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3	.	13
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	.	8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USH1C CL E G H	10083	12597	OMIM:602092	DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A		173
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.	173
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.	173
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.	78
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39		777
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA	.	777
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0000005	HP:0001417	X-linked inheritance	2	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0000005	HP:0001417	X-linked inheritance	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000005	HP:0001417	X-linked inheritance	2	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000005	HP:0001450	Y-linked inheritance	2	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included	.	116
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20	.	56
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.	180
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15	.	248
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0000005	HP:0001450	Y-linked inheritance	2	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VKORC1 CL E G H	79001	23663	OMIM:122700	Coumarin resistance	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0000005	HP:0001417	X-linked inheritance	2	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy		10
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VPS35 CL E G H	55737	13487	OMIM:614203	Parkinson disease 17	.	37
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.	47
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1	.	47
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VSX2 CL E G H	338917	1975	OMIM:610093	MICROPHTHALMIA, ISOLATED 2; MCOP2		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3		66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.	533
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.	533
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	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:0000005	HP:0000007	Autosomal recessive inheritance	2	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0000005	HP:0001417	X-linked inheritance	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0000005	HP:0001417	X-linked inheritance	2	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0000005	HP:0001417	X-linked inheritance	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43	.	25
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WBP2 CL E G H	23558	12738	OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107		3
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant	.	6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDPCP CL E G H	51057	28027	OMIM:615992	Bardet-Biedl syndrome 15	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.	95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	.	95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.	95
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V	.	51
HP:0000005	HP:0001417	X-linked inheritance	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5		51
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.	137
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WEE2 CL E G H	494551	19684	OMIM:617996	Oocyte maturation defect 5	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WFS1 CL E G H	7466	12762	OMIM:116400	Cataract, nuclear total	.	389
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6	.	389
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	389
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	.	389
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WHRN CL E G H	25861	16361	OMIM:607084	Deafness, autosomal recessive 31	.	155
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID	.	155
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	.	71
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0000005	HP:0003829	Typified by incomplete penetrance	2	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	.	40
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000005	HP:0001428	Somatic mutation	2	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000005	HP:0001428	Somatic mutation	2	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0000005	HP:0001428	Somatic mutation	2	WT1 CL E G H	7490	12796	OMIM:156240	Mesothelioma, malignant	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1	.	177
HP:0000005	HP:0001428	Somatic mutation	2	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1	.	177
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	.	177
HP:0000005	HP:0001428	Somatic mutation	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	.	177
HP:0000005	HP:0001466	Contiguous gene syndrome	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	.	177
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149
HP:0000005	HP:0001428	Somatic mutation	2	WWOX CL E G H	51741	12799	OMIM:133239	Esophageal cancer, somatic	.	149
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.	149
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	.	79
HP:0000005	HP:0001417	X-linked inheritance	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0000005	HP:0001417	X-linked inheritance	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0000005	HP:0001417	X-linked inheritance	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.	109
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U	.	125
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	XRCC3 CL E G H	7517	12830	OMIM:114480	Breast cancer	.	2
HP:0000005	HP:0001428	Somatic mutation	2	XRCC3 CL E G H	7517	12830	OMIM:114480	Breast cancer	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	.	2
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.	45
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome		5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.	46
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.	1
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000005	HP:0025352	Typically de novo	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZC3H14 CL E G H	79882	20509	OMIM:617125	Mental retardation, autosomal recessive 56	.	24
HP:0000005	HP:0001417	X-linked inheritance	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0000005	HP:0001417	X-linked inheritance	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0000005	HP:0001417	X-linked inheritance	2	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.	10
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZFHX3 CL E G H	463	777	OMIM:176807	Prostate cancer	.	6
HP:0000005	HP:0001428	Somatic mutation	2	ZFHX3 CL E G H	463	777	OMIM:176807	Prostate cancer	.	6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZFHX4 CL E G H	79776	30939	OMIM:178300	Ptosis, hereditary congenital 1	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.	30
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9	.	31
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.	31
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	.	34
HP:0000005	HP:0001417	X-linked inheritance	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000005	HP:0001417	X-linked inheritance	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.	24
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF141 CL E G H	7700	12926	OMIM:615226	Polydactyly, postaxial, type A6	.	3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.	14
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.	14
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	.	49
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	.	49
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.	27
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF644 CL E G H	84146	29222	OMIM:614167	Myopia 21, autosomal dominant	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6		2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000005	HP:0001417	X-linked inheritance	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZNF750 CL E G H	79755	25843	OMIM:610227	Seborrhea-Like dermatitis with psoriasiform elements	.	2
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect	.	1
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3	.
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0000005	HP:0000006	Autosomal dominant inheritance	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0000005	HP:0000007	Autosomal recessive inheritance	2	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0000005	HP:0001475	Male-limited expression	3	CL E G H
HP:0000005	HP:0012274	Autosomal dominant inheritance with paternal imprinting	3	CL E G H
HP:0000005	HP:0032383	Uniparental heterodisomy	3	CL E G H
HP:0000005	HP:0032384	Uniparental isodisomy	3	CL E G H
HP:0000005	HP:0034340	Pseudoautosomal dominant inheritance	3	CL E G H
HP:0000005	HP:0034341	Pseudoautosomal recessive inheritance	3	CL E G H
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0000005	HP:0001423	X-linked dominant inheritance	3	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.	60
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.	60
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.	114
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.	72
HP:0000005	HP:0001423	X-linked dominant inheritance	3	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0000005	HP:0001423	X-linked dominant inheritance	3	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.	17
HP:0000005	HP:0001423	X-linked dominant inheritance	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked	.	125
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.	45
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.	29
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.	166
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked	.	1
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0000005	HP:0001423	X-linked dominant inheritance	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000005	HP:0003744	Genetic anticipation with paternal anticipation bias	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0000005	HP:0003744	Genetic anticipation with paternal anticipation bias	3	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0000005	HP:0001419	X-linked recessive inheritance	3	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0000005	HP:0001419	X-linked recessive inheritance	3	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.	8
HP:0000005	HP:0001423	X-linked dominant inheritance	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0000005	HP:0001419	X-linked recessive inheritance	3	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0000005	HP:0001419	X-linked recessive inheritance	3	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0000005	HP:0001419	X-linked recessive inheritance	3	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000005	HP:0001419	X-linked recessive inheritance	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0000005	HP:0001419	X-linked recessive inheritance	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0000005	HP:0001423	X-linked dominant inheritance	3	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	118
HP:0000005	HP:0001423	X-linked dominant inheritance	3	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0000005	HP:0001423	X-linked dominant inheritance	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0000005	HP:0001423	X-linked dominant inheritance	3	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked	.	7
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0000005	HP:0001423	X-linked dominant inheritance	3	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.	60
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.	44
HP:0000005	HP:0001423	X-linked dominant inheritance	3	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0000005	HP:0001419	X-linked recessive inheritance	3	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6	.	18
HP:0000005	HP:0001423	X-linked dominant inheritance	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	.	6
HP:0000005	HP:0001423	X-linked dominant inheritance	3	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.	158
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CYBB CL E G H	1536	2578	OMIM:300645	Atypical mycobacteriosis, familial, X-linked 2	.	111
HP:0000005	HP:0001419	X-linked recessive inheritance	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0000005	HP:0001419	X-linked recessive inheritance	3	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000005	HP:0001423	X-linked dominant inheritance	3	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000005	HP:0001423	X-linked dominant inheritance	3	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A	.	6
HP:0000005	HP:0001419	X-linked recessive inheritance	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000005	HP:0001419	X-linked recessive inheritance	3	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0000005	HP:0001419	X-linked recessive inheritance	3	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0000005	HP:0001419	X-linked recessive inheritance	3	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.	1496
HP:0000005	HP:0001419	X-linked recessive inheritance	3	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0000005	HP:0001423	X-linked dominant inheritance	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0000005	HP:0001419	X-linked recessive inheritance	3	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0000005	HP:0001419	X-linked recessive inheritance	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000005	HP:0001423	X-linked dominant inheritance	3	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0000005	HP:0001423	X-linked dominant inheritance	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000005	HP:0001419	X-linked recessive inheritance	3	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0000005	HP:0001419	X-linked recessive inheritance	3	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0000005	HP:0001419	X-linked recessive inheritance	3	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0000005	HP:0001423	X-linked dominant inheritance	3	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0000005	HP:0001419	X-linked recessive inheritance	3	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0000005	HP:0001419	X-linked recessive inheritance	3	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion	.	3
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.	493
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0000005	HP:0001423	X-linked dominant inheritance	3	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000005	HP:0001419	X-linked recessive inheritance	3	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000005	HP:0001423	X-linked dominant inheritance	3	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	101
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0000005	HP:0001423	X-linked dominant inheritance	3	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0000005	HP:0001423	X-linked dominant inheritance	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000005	HP:0001423	X-linked dominant inheritance	3	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.	64
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.	124
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7	.
HP:0000005	HP:0001419	X-linked recessive inheritance	3	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0000005	HP:0001423	X-linked dominant inheritance	3	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000005	HP:0001419	X-linked recessive inheritance	3	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0000005	HP:0001423	X-linked dominant inheritance	3	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0000005	HP:0001423	X-linked dominant inheritance	3	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0000005	HP:0001423	X-linked dominant inheritance	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000005	HP:0001419	X-linked recessive inheritance	3	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0000005	HP:0001419	X-linked recessive inheritance	3	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0000005	HP:0001419	X-linked recessive inheritance	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000005	HP:0001423	X-linked dominant inheritance	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0000005	HP:0001423	X-linked dominant inheritance	3	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	.	119
HP:0000005	HP:0001423	X-linked dominant inheritance	3	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0000005	HP:0001419	X-linked recessive inheritance	3	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0000005	HP:0012275	Autosomal dominant inheritance with maternal imprinting	3	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0000005	HP:0001419	X-linked recessive inheritance	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000005	HP:0001423	X-linked dominant inheritance	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000005	HP:0001419	X-linked recessive inheritance	3	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100		5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0000005	HP:0001419	X-linked recessive inheritance	3	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0000005	HP:0001419	X-linked recessive inheritance	3	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.	134
HP:0000005	HP:0001419	X-linked recessive inheritance	3	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0000005	HP:0001419	X-linked recessive inheritance	3	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000005	HP:0001423	X-linked dominant inheritance	3	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0000005	HP:0001419	X-linked recessive inheritance	3	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS		8
HP:0000005	HP:0001419	X-linked recessive inheritance	3	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.	62
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC		17
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked	.	5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.	22
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000005	HP:0001423	X-linked dominant inheritance	3	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0000005	HP:0001423	X-linked dominant inheritance	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000005	HP:0012275	Autosomal dominant inheritance with maternal imprinting	3	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0000005	HP:0001423	X-linked dominant inheritance	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0000005	HP:0001419	X-linked recessive inheritance	3	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000005	HP:0001423	X-linked dominant inheritance	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	39
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.	7
HP:0000005	HP:0001423	X-linked dominant inheritance	3	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0000005	HP:0001423	X-linked dominant inheritance	3	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000005	HP:0001423	X-linked dominant inheritance	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000005	HP:0001423	X-linked dominant inheritance	3	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0000005	HP:0001423	X-linked dominant inheritance	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0000005	HP:0001419	X-linked recessive inheritance	3	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.	42
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000005	HP:0001423	X-linked dominant inheritance	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23	.	201
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.	7
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series	.	7
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.	5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series	.	5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0000005	HP:0001419	X-linked recessive inheritance	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.	18
HP:0000005	HP:0001423	X-linked dominant inheritance	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0000005	HP:0001423	X-linked dominant inheritance	3	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.	21
HP:0000005	HP:0001423	X-linked dominant inheritance	3	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.	54
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0000005	HP:0001419	X-linked recessive inheritance	3	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B	.	31
HP:0000005	HP:0034344	Female-limited expression	3	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000005	HP:0001419	X-linked recessive inheritance	3	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000005	HP:0001419	X-linked recessive inheritance	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0000005	HP:0001423	X-linked dominant inheritance	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000005	HP:0001419	X-linked recessive inheritance	3	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1		49
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.	49
HP:0000005	HP:0001419	X-linked recessive inheritance	3	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.	34
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72		34
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.	108
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000005	HP:0001423	X-linked dominant inheritance	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.	38
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC		200
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000005	HP:0001423	X-linked dominant inheritance	3	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000005	HP:0001423	X-linked dominant inheritance	3	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000005	HP:0001419	X-linked recessive inheritance	3	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile	.	148
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0000005	HP:0001423	X-linked dominant inheritance	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0000005	HP:0001423	X-linked dominant inheritance	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000005	HP:0001423	X-linked dominant inheritance	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000005	HP:0001423	X-linked dominant inheritance	3	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.	12
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0000005	HP:0001423	X-linked dominant inheritance	3	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000005	HP:0001419	X-linked recessive inheritance	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000005	HP:0001419	X-linked recessive inheritance	3	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked	.	19
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.	58
HP:0000005	HP:0001423	X-linked dominant inheritance	3	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.	58
HP:0000005	HP:0001419	X-linked recessive inheritance	3	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96		28
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked	.	21
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2	.	5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0000005	HP:0001423	X-linked dominant inheritance	3	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TLR7 CL E G H	51284	15631	OMIM:301051	IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	.	10
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58		26
HP:0000005	HP:0001419	X-linked recessive inheritance	3	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.	1
HP:0000005	HP:0001419	X-linked recessive inheritance	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0000005	HP:0001419	X-linked recessive inheritance	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000005	HP:0001423	X-linked dominant inheritance	3	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0000005	HP:0001419	X-linked recessive inheritance	3	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0000005	HP:0001419	X-linked recessive inheritance	3	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105		3
HP:0000005	HP:0001423	X-linked dominant inheritance	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000005	HP:0001419	X-linked recessive inheritance	3	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000005	HP:0001419	X-linked recessive inheritance	3	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0000005	HP:0001419	X-linked recessive inheritance	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked	.	65
HP:0000005	HP:0001419	X-linked recessive inheritance	3	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0000005	HP:0001419	X-linked recessive inheritance	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0000005	HP:0001423	X-linked dominant inheritance	3	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0000005	HP:0001419	X-linked recessive inheritance	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0000005	HP:0001419	X-linked recessive inheritance	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0000005	HP:0001423	X-linked dominant inheritance	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000005	HP:0001419	X-linked recessive inheritance	3	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39

Genes (4582) :A2ML1 A4GALT AAAS AAGAB AARS1 AARS2 AASS ABAT ABCA1 ABCA12 ABCA2 ABCA3 ABCA4 ABCA5 ABCA7 ABCB11 ABCB4 ABCB6 ABCB7 ABCC1 ABCC2 ABCC6 ABCC8 ABCC9 ABCD1 ABCD3 ABCD4 ABCG5 ABCG8 ABHD12 ABHD16A ABHD5 ABL1 ACACA ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAN ACAT1 ACAT2 ACBD5 ACD ACE ACER3 ACKR3 ACO2 ACOX1 ACOX2 ACP4 ACP5 ACSF3 ACSL4 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTL6B ACTL9 ACTN1 ACTN2 ACTN4 ACVR1 ACVR2B ACVRL1 ACY1 ADA ADA2 ADAM10 ADAM17 ADAM22 ADAM9 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS3 ADAMTSL2 ADAMTSL4 ADAR ADARB1 ADAT3 ADCY1 ADCY10 ADCY3 ADCY5 ADCY6 ADD1 ADD3 ADGRE2 ADGRG1 ADGRG2 ADGRG6 ADGRL1 ADGRV1 ADH1B ADH1C ADH5 ADK ADNP ADPRS ADRB2 ADRB3 ADSL ADSS1 AEBP1 AFF2 AFF3 AFF4 AFG3L2 AFP AGA AGBL1 AGBL5 AGK AGL AGO2 AGPAT2 AGPS AGRN AGRP AGT AGTPBP1 AGTR1 AGXT AHCY AHDC1 AHI1 AHR AHSG AICDA AIFM1 AIMP1 AIMP2 AIP AIPL1 AIRE AK1 AK2 AK7 AKAP9 AKR1C2 AKR1C4 AKR1D1 AKT1 AKT2 AKT3 ALAD ALAS2 ALB ALDH18A1 ALDH1A2 ALDH1A3 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG10B ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG5 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOX5 ALOX5AP ALOXE3 ALPK1 ALPK3 ALPL ALS2 ALX1 ALX3 ALX4 AMACR AMBN AMELX AMER1 AMH AMHR2 AMMECR1 AMN AMPD1 AMPD2 AMT AMTN ANAPC1 ANAPC7 ANG ANGPT1 ANGPT2 ANGPTL3 ANGPTL4 ANK1 ANK2 ANK3 ANKH ANKLE2 ANKRD11 ANKRD17 ANKRD26 ANKS6 ANLN ANO1 ANO10 ANO3 ANO5 ANO6 ANOS1 ANTXR1 ANTXR2 ANXA11 ANXA5 AOPEP AP1B1 AP1G1 AP1S1 AP1S2 AP1S3 AP2M1 AP2S1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APCDD1 APOA1 APOA2 APOA5 APOB APOC2 APOE APOL1 APOL2 APOL4 APP APPL1 APRT APTX AQP2 AQP5 AR ARCN1 ARF1 ARFGEF1 ARFGEF2 ARG1 ARHGAP26 ARHGAP31 ARHGDIA ARHGEF1 ARHGEF10 ARHGEF18 ARHGEF2 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL2 ARL2BP ARL3 ARL6 ARL6IP1 ARMC2 ARMC5 ARMC9 ARNT2 ARPC1B ARPC4 ARR3 ARSA ARSB ARSG ARSK ARSL ARV1 ARX ASAH1 ASB10 ASCC1 ASH1L ASL ASNS ASPA ASPH ASPM ASPN ASPRV1 ASPSCR1 ASS1 ASTL ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATCAY ATF6 ATG5 ATG7 ATIC ATL1 ATL3 ATM ATN1 ATOH7 ATP11A ATP11C ATP13A2 ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP2A2 ATP2B1 ATP2B2 ATP2B3 ATP2C1 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATP8B1 ATPAF2 ATR ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH AURKA AURKC AUTS2 AVIL AVP AVPR2 AXIN1 AXIN2 AXL B2M B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAAT BACH2 BAG3 BAG5 BANF1 BAP1 BARD1 BAX BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCAS3 BCAT2 BCHE BCKDHA BCKDHB BCL10 BCL11A BCL11B BCO1 BCOR BCORL1 BCR BCS1L BDP1 BEAN1 BEST1 BFSP1 BFSP2 BGN BHLHA9 BICC1 BICD2 BICRA BIN1 BLK BLM BLNK BLOC1S3 BLOC1S5 BLOC1S6 BLTP1 BLVRA BMP1 BMP15 BMP2 BMP4 BMPER BMPR1A BMPR1B BMPR2 BMS1 BNC1 BNC2 BOLA3 BPGM BPNT2 BPTF BPY2 BRAF BRAT1 BRCA1 BRCA2 BRDT BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BTG4 BTK BTNL2 BUB1 BUB1B BVES C11ORF80 C12ORF4 C12ORF57 C14ORF39 C18ORF32 C19ORF12 C1GALT1C1 C1QA C1QB C1QBP C1QC C1QTNF5 C1R C1S C2 C2CD3 C2ORF69 C3 C4A C5 C6 C7 C8A C8B C9 C9ORF72 CA12 CA2 CA5A CA8 CABP2 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1S CACNA2D2 CACNA2D4 CACNB2 CACNB4 CACNG2 CAD CADM3 CALCR CALCRL CALM1 CALM2 CALM3 CALR CAMK2A CAMK2B CAMK2G CAMTA1 CANT1 CAPN1 CAPN15 CAPN3 CAPN5 CARD10 CARD11 CARD14 CARD8 CARD9 CARMIL2 CARS1 CARS2 CARTPT CASK CASP10 CASP14 CASP8 CASQ1 CASQ2 CASR CAST CAT CATIP CATSPER1 CATSPER2 CAV1 CAV3 CAVIN1 CBL CBLIF CBS CBX2 CC2D1A CC2D2A CCBE1 CCDC103 CCDC115 CCDC134 CCDC141 CCDC174 CCDC22 CCDC28B CCDC32 CCDC34 CCDC39 CCDC40 CCDC47 CCDC50 CCDC62 CCDC65 CCDC78 CCDC8 CCDC88A CCDC88C CCL11 CCL2 CCM2 CCN6 CCND1 CCND2 CCNF CCNK CCNO CCNQ CCT5 CD151 CD164 CD19 CD247 CD27 CD320 CD36 CD3D CD3E CD3G CD4 CD40 CD40LG CD46 CD55 CD59 CD70 CD79A CD79B CD81 CD8A CD96 CDAN1 CDC14A CDC40 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH1 CDH11 CDH15 CDH2 CDH23 CDH3 CDHR1 CDIN1 CDK10 CDK13 CDK19 CDK4 CDK5 CDK5RAP2 CDK6 CDK8 CDKL5 CDKN1B CDKN1C CDKN2A CDON CDSN CDT1 CDY1 CDY2A CEACAM16 CEBPA CEBPE CEL CELA2A CELF2 CELSR1 CENPE CENPF CENPJ CENPT CEP104 CEP112 CEP120 CEP135 CEP152 CEP164 CEP19 CEP250 CEP290 CEP41 CEP55 CEP57 CEP63 CEP78 CEP83 CEP85L CERKL CERS1 CERS3 CERT1 CES1 CFAP251 CFAP298 CFAP300 CFAP410 CFAP418 CFAP43 CFAP44 CFAP45 CFAP47 CFAP52 CFAP53 CFAP58 CFAP65 CFAP69 CFAP70 CFAP91 CFB CFC1 CFD CFH CFHR1 CFHR3 CFHR5 CFI CFL2 CFP CFTR CHAMP1 CHAT CHCHD10 CHCHD2 CHD1 CHD2 CHD3 CHD4 CHD5 CHD7 CHD8 CHEK2 CHI3L1 CHIC2 CHKA CHKB CHM CHMP1A CHMP2B CHMP4B CHN1 CHP1 CHRDL1 CHRM3 CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CHST6 CHST8 CHSY1 CHUK CIB1 CIB2 CIBAR1 CIC CIDEC CIITA CILK1 CIROP CISD2 CIT CITED2 CKAP2L CLCC1 CLCF1 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKB CLDN1 CLDN10 CLDN11 CLDN14 CLDN16 CLDN19 CLDN2 CLDN9 CLEC3B CLEC7A CLIC2 CLIC5 CLMP CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLPP CLPX CLRN1 CLRN2 CLTC CNBP CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM2 CNNM4 CNOT1 CNOT2 CNOT3 CNP CNPY3 CNTN1 CNTN2 CNTNAP1 CNTNAP2 COA3 COA5 COA6 COA7 COA8 COASY COCH COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLGALT1 COLQ COMP COMT COPA COPB1 COPB2 COQ2 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 CORIN CORO1A COX1 COX10 COX14 COX15 COX16 COX2 COX20 COX3 COX4I1 COX4I2 COX5A COX6A1 COX6A2 COX6B1 COX7B COX8A CP CPA6 CPAMD8 CPE CPLANE1 CPLX1 CPN1 CPOX CPS1 CPSF1 CPSF3 CPT1A CPT1C CPT2 CR2 CRADD CRAT CRB1 CRB2 CRBN CREB1 CREB3L1 CREB3L3 CREBBP CRELD1 CRIPT CRLF1 CRPPA CRTAP CRX CRY1 CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CRYM CSF1R CSF2RA CSF2RB CSF3R CSGALNACT1 CSNK1D CSNK2A1 CSNK2B CSPP1 CSRP3 CST3 CST6 CSTA CSTB CTBP1 CTC1 CTCF CTDP1 CTH CTHRC1 CTLA4 CTNNA1 CTNNA2 CTNNA3 CTNNB1 CTNNBL1 CTNND1 CTNS CTPS1 CTRC CTSA CTSB CTSC CTSD CTSF CTSK CTU2 CUBN CUL3 CUL4B CUL7 CUX1 CUX2 CWC27 CWF19L1 CXCR2 CXCR4 CYB561 CYB5A CYB5R3 CYBA CYBB CYBC1 CYC1 CYCS CYFIP2 CYLD CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP26B1 CYP26C1 CYP27A1 CYP27B1 CYP2A6 CYP2C9 CYP2D6 CYP2R1 CYP2U1 CYP3A4 CYP3A5 CYP4F22 CYP4V2 CYP7B1 CYTB D2HGDH DAAM2 DAB1 DACT1 DAG1 DALRD3 DAOA DARS1 DARS2 DAZ1 DAZ2 DAZ3 DBH DBR1 DBT DCAF17 DCAF8 DCC DCDC2 DCHS1 DCLRE1C DCN DCPS DCT DCTN1 DCX DDB1 DDB2 DDC DDHD1 DDHD2 DDOST DDR2 DDRGK1 DDX11 DDX3X DDX3Y DDX41 DDX59 DDX6 DEAF1 DEF6 DEGS1 DENND5A DEPDC5 DES DGAT1 DGCR2 DGCR6 DGCR8 DGKE DGUOK DHCR24 DHCR7 DHDDS DHFR DHH DHODH DHPS DHTKD1 DHX16 DHX30 DHX37 DHX38 DIABLO DIAPH1 DIAPH2 DIAPH3 DICER1 DIO1 DIP2B DIS3L2 DISC2 DKC1 DLAT DLC1 DLD DLG3 DLG4 DLL1 DLL3 DLL4 DLST DLX3 DLX4 DLX5 DMD DMGDH DMP1 DMPK DMXL2 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJB2 DNAJB6 DNAJC12 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAJC5 DNAJC6 DNAL1 DNAL4 DNASE1 DNASE1L3 DNASE2 DNHD1 DNM1 DNM1L DNM2 DNMBP DNMT1 DNMT3A DNMT3B DOCK2 DOCK3 DOCK6 DOCK7 DOCK8 DOHH DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPM3 DPP6 DPY19L2 DPYD DPYS DPYSL5 DRAM2 DRC1 DRD3 DRD4 DRD5 DSC2 DSC3 DSE DSG1 DSG2 DSG3 DSG4 DSP DSPP DST DSTYK DTNA DTNBP1 DTYMK DUOX2 DUOXA2 DUSP6 DUT DVL1 DVL3 DYM DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A DYRK1B DYSF DZIP1 DZIP1L EARS2 EBF3 EBP ECE1 ECEL1 ECHS1 ECM1 EDA EDAR EDARADD EDC3 EDEM3 EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EEF2 EFEMP1 EFEMP2 EFHC1 EFL1 EFNB1 EFTUD2 EGF EGFR EGLN1 EGR2 EHHADH EHMT1 EIF2AK1 EIF2AK2 EIF2AK3 EIF2AK4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF3F EIF4A3 EIF4G1 EIF5A ELAC2 ELANE ELF4 ELMO2 ELMOD3 ELN ELOVL1 ELOVL4 ELOVL5 ELP1 ELP2 ELP4 EMC1 EMC10 EMD EMG1 EMILIN1 EML1 EMP2 EN1 ENAM ENG ENO3 ENPP1 ENTPD1 EOGT EP300 EPAS1 EPB41 EPB41L1 EPB42 EPCAM EPG5 EPHA2 EPHB2 EPHB4 EPHX2 EPM2A EPO EPRS1 EPS8 EPS8L2 EPS8L3 ERAL1 ERBB2 ERBB3 ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ERF ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 ESPN ESR1 ESR2 ESRP1 ESRRB ESS2 ETFA ETFB ETFDH ETHE1 ETV6 EVC EVC2 EWSR1 EXOC2 EXOC6B EXOC7 EXOC8 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXPH5 EXT1 EXT2 EXTL3 EYA1 EYA4 EYS EZH2 F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FA2H FADD FAH FAM111A FAM111B FAM149B1 FAM161A FAM20A FAM20C FAM50A FAM83H FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FAS FASLG FASTKD2 FAT2 FAT4 FBLN1 FBLN5 FBN1 FBN2 FBP1 FBP2 FBXL3 FBXL4 FBXO11 FBXO28 FBXO31 FBXO38 FBXO43 FBXO7 FBXW11 FBXW7 FCGR2A FCGR2B FCGR3A FCHO1 FCN3 FCSK FDFT1 FDPS FDX2 FDXR FECH FERMT1 FERMT3 FEZF1 FGA FGB FGD1 FGD4 FGF10 FGF12 FGF13 FGF14 FGF16 FGF17 FGF20 FGF23 FGF3 FGF5 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FGG FH FHL1 FHOD3 FIBP FIG4 FIGLA FITM2 FKBP10 FKBP14 FKBP5 FKBP6 FKRP FKTN FLAD1 FLCN FLG FLG2 FLI1 FLNA FLNB FLNC FLRT3 FLT3 FLT4 FLVCR1 FLVCR2 FMN2 FMO3 FMR1 FN1 FNIP1 FOCAD FOLR1 FOXC1 FOXC2 FOXD3 FOXE1 FOXE3 FOXF1 FOXG1 FOXI1 FOXJ1 FOXL2 FOXN1 FOXO1 FOXP1 FOXP2 FOXP3 FOXRED1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMD5 FRMD7 FRMPD4 FRRS1L FRZB FSCN2 FSHB FSHR FSIP2 FTCD FTH1 FTL FTO FTSJ1 FUCA1 FUS FUT8 FUZ FXN FXR1 FXYD2 FYB1 FYCO1 FZD2 FZD4 FZD6 G6PC1 G6PC3 G6PD GAA GAB1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GAL GALC GALE GALK1 GALM GALNS GALNT2 GALNT3 GALT GAMT GAN GANAB GARS1 GAS2L2 GAS8 GATA1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD1 GATAD2B GATB GATC GATM GBA1 GBA2 GBE1 GBF1 GCDH GCGR GCH1 GCK GCLC GCM2 GCNA GCNT2 GCSH GDAP1 GDAP2 GDF1 GDF11 GDF2 GDF3 GDF5 GDF6 GDF9 GDI1 GDNF GEMIN4 GEMIN5 GFAP GFER GFI1 GFI1B GFM1 GFM2 GFPT1 GFRA1 GGCX GGN GGPS1 GGT1 GH1 GHR GHRHR GHRL GHSR GIGYF2 GIMAP5 GINS1 GIPC1 GIPC3 GJA1 GJA3 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GJC2 GK GLA GLB1 GLDC GLDN GLE1 GLI1 GLI2 GLI3 GLIS2 GLIS3 GLMN GLRA1 GLRA2 GLRB GLRX5 GLS GLUD1 GLUD2 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNA11 GNAI1 GNAI2 GNAI3 GNAL GNAO1 GNAQ GNAS GNAS-AS1 GNAT1 GNAT2 GNB1 GNB2 GNB3 GNB4 GNB5 GNE GNMT GNPAT GNPTAB GNPTG GNRH1 GNRHR GNS GON7 GORAB GOSR2 GOT2 GP1BA GP1BB GP6 GP9 GPAA1 GPC3 GPC4 GPC6 GPD1 GPD1L GPD2 GPHN GPI GPIHBP1 GPNMB GPR101 GPR143 GPR161 GPR179 GPR68 GPR88 GPRASP2 GPSM2 GPT2 GPX1 GPX4 GRAP GREB1L GREM2 GRHL2 GRHL3 GRHPR GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRK1 GRM1 GRM6 GRM7 GRN GRXCR1 GRXCR2 GSC GSDME GSN GSR GSS GSX2 GTF2E2 GTF2H5 GTPBP2 GTPBP3 GUCA1A GUCA1B GUCY1A1 GUCY2C GUCY2D GUF1 GUSB GYG1 GYS1 GYS2 GZF1 H1-4 H19 H19-ICR H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 H6PD HAAO HABP2 HACD1 HACE1 HADH HADHA HADHB HAMP HARS1 HARS2 HAVCR2 HAX1 HBA1 HBA2 HBB HBG1 HBG2 HCCS HCFC1 HCN1 HCN2 HCN4 HCRT HDAC4 HDAC6 HDAC8 HDC HEATR3 HECW2 HELLS HEPACAM HEPHL1 HERC1 HERC2 HES7 HESX1 HEXB HFE HFM1 HGD HGF HGSNAT HHAT HIBCH HID1 HIKESHI HINT1 HIVEP2 HJV HK1 HKDC1 HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G HLCS HMBS HMCN1 HMGA1 HMGA2 HMGB3 HMGCL HMGCS2 HMMR HMOX1 HMX1 HNF1A HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPDL HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOGA1 HOMER2 HOXA1 HOXA11 HOXA13 HOXA2 HOXB1 HOXC13 HOXD10 HOXD13 HPCA HPD HPDL HPGD HPRT1 HPS1 HPS3 HPS4 HPS5 HPS6 HPSE2 HR HRAS HRG HRURF HS2ST1 HS3ST6 HS6ST1 HS6ST2 HSCB HSD11B1 HSD11B2 HSD17B10 HSD17B3 HSD17B4 HSD3B2 HSD3B7 HSF2BP HSF4 HSFY1 HSPA9 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HTR1A HTR2A HTRA1 HTRA2 HTT HUWE1 HYAL1 HYCC1 HYDIN HYLS1 HYMAI HYOU1 IARS1 IARS2 IBA57 ICOS IDH1 IDH2 IDH3A IDH3B IDS IDUA IER3IP1 IFIH1 IFITM5 IFNAR1 IFNAR2 IFNG IFNGR1 IFNGR2 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IGBP1 IGF1 IGF1R IGF2 IGF2BP2 IGF2R IGFBP7 IGHM IGHMBP2 IGKC IGLL1 IGSF1 IGSF3 IHH IKBKB IKBKG IKZF1 IKZF3 IKZF5 IL10RA IL10RB IL11RA IL12B IL12RB1 IL13 IL17F IL17RA IL17RC IL17RD IL18BP IL1B IL1RAPL1 IL1RN IL21 IL21R IL2RA IL2RB IL2RG IL31RA IL36RN IL37 IL4R IL6 IL6R IL6ST IL7 IL7R ILDR1 IMPA1 IMPDH1 IMPG1 IMPG2 INAVA INF2 ING1 INPP5E INPP5K INPPL1 INS INSL3 INSR INTS1 INTS8 INTU INVS IPO8 IPW IQCB1 IQCE IQSEC1 IQSEC2 IRAK4 IREB2 IRF1 IRF2BP2 IRF2BPL IRF3 IRF6 IRF7 IRF8 IRF9 IRS1 IRS2 IRS4 IRX5 ISCA1 ISCA2 ISCU ISG15 ITCH ITGA2B ITGA3 ITGA6 ITGA7 ITGA8 ITGB2 ITGB3 ITGB4 ITGB6 ITK ITM2B ITPA ITPR1 ITPR2 IVD IVNS1ABP IYD JAG1 JAG2 JAGN1 JAK1 JAK2 JAK3 JAM2 JAM3 JPH1 JPH2 JPH3 JUP KANK1 KANK2 KANSL1 KARS1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KBTBD13 KCNA1 KCNA2 KCNA4 KCNA5 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNE1 KCNE2 KCNE3 KCNH1 KCNH2 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ16 KCNJ18 KCNJ2 KCNJ5 KCNJ6 KCNK18 KCNK3 KCNK4 KCNK9 KCNMA1 KCNMB1 KCNN2 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KCNQ2 KCNQ3 KCNQ4 KCNQ5 KCNT1 KCNT2 KCNV2 KCTD1 KCTD17 KCTD7 KDELR2 KDF1 KDM1A KDM3B KDM4B KDM5B KDM5C KDM5D KDM6A KDM6B KDR KDSR KERA KHDC3L KIAA0586 KIAA0753 KIAA0825 KIAA1549 KIDINS220 KIF11 KIF12 KIF14 KIF15 KIF1A KIF1B KIF1C KIF20A KIF21A KIF22 KIF23 KIF2A KIF3B KIF4A KIF5A KIF5C KIF7 KIFBP KIRREL1 KISS1 KISS1R KIT KITLG KIZ KL KLC2 KLF1 KLF11 KLF13 KLF6 KLHDC8B KLHL10 KLHL15 KLHL24 KLHL3 KLHL40 KLHL41 KLHL7 KLK4 KLKB1 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNG1 KNL1 KNSTRN KPTN KRAS KREMEN1 KRIT1 KRT1 KRT10 KRT12 KRT13 KRT14 KRT16 KRT17 KRT18 KRT2 KRT25 KRT3 KRT4 KRT5 KRT6A KRT6B KRT6C KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 KRT9 KY KYNU L1CAM L2HGDH LACC1 LAGE3 LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC2 LAMC3 LAMP2 LAMTOR2 LARGE1 LARP7 LARS1 LARS2 LAS1L LAT LBR LBX1 LCA5 LCAT LCK LCP2 LCT LDB3 LDHA LDHD LDLR LDLRAP1 LEMD2 LEMD3 LEP LEPR LETM1 LFNG LGI1 LGI3 LGI4 LGR4 LHB LHCGR LHFPL5 LHX3 LHX4 LIAS LIFR LIG1 LIG3 LIG4 LIM2 LIMS2 LINGO1 LINS1 LIPA LIPC LIPE LIPH LIPN LIPT1 LIPT2 LITAF LMAN1 LMAN2L LMBR1 LMBRD1 LMBRD2 LMF1 LMNA LMNB1 LMNB2 LMOD1 LMOD2 LMOD3 LMX1A LMX1B LNPK LOC111365204 LONP1 LORICRIN LOX LOXHD1 LOXL1 LOXL3 LPAR6 LPIN1 LPIN2 LPL LPP LRAT LRBA LRIF1 LRIG2 LRIT3 LRMDA LRP1 LRP12 LRP2 LRP4 LRP5 LRP6 LRPAP1 LRPPRC LRRC32 LRRC56 LRRC8A LRRK1 LRRK2 LRSAM1 LRTOMT LSM11 LSS LTBP1 LTBP2 LTBP3 LTBP4 LTC4S LYRM4 LYRM7 LYSET LYST LYZ LZTFL1 LZTR1 LZTS1 M1AP MAB21L1 MAB21L2 MACF1 MAD1L1 MAD2L2 MADD MAF MAFA MAFB MAG MAGED2 MAGEL2 MAGI2 MAGT1 MAK MALT1 MAMLD1 MAN1B1 MAN2B1 MAN2C1 MANBA MAOA MAP1B MAP2K1 MAP2K2 MAP3K1 MAP3K20 MAP3K7 MAP3K8 MAPK1 MAPK8IP1 MAPK8IP3 MAPKAPK3 MAPKAPK5 MAPKBP1 MAPRE2 MAPT MARCHF6 MARK3 MARS1 MARS2 MARVELD2 MASP1 MASP2 MAST1 MAT1A MATN3 MATR3 MAX MBD4 MBD5 MBL2 MBOAT7 MBTPS1 MBTPS2 MC1R MC2R MC4R MCC MCCC1 MCCC2 MCEE MCFD2 MCIDAS MCM10 MCM2 MCM3AP MCM4 MCM5 MCM6 MCM8 MCM9 MCOLN1 MCPH1 MDFIC MDH1 MDH2 MDM2 MDM4 MECOM MECP2 MECR MED12 MED12L MED13 MED13L MED17 MED23 MED25 MED27 MEF2A MEF2C MEFV MEGF10 MEGF8 MEI1 MEIOB MEIS2 MEN1 MEOX1 MERTK MESD MESP2 MET METTL13 METTL23 METTL5 MFAP5 MFF MFN2 MFRP MFSD2A MFSD8 MGAT2 MGME1 MGP MIA3 MIB1 MICAL1 MICOS13 MICU1 MID1 MID2 MIEF2 MINPP1 MIP MIPEP MIR140 MIR184 MIR204 MIR96 MITF MKKS MKRN3 MKRN3-AS1 MKS1 MLC1 MLH1 MLH3 MLIP MLLT10 MLPH MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MME MMP1 MMP13 MMP14 MMP19 MMP2 MMP20 MMP21 MMP9 MMUT MN1 MNS1 MNX1 MOCOS MOCS1 MOCS2 MOG MOGS MORC2 MOV10L1 MPC1 MPDU1 MPDZ MPEG1 MPI MPIG6B MPL MPLKIP MPO MPV17 MPZ MPZL2 MRAP MRAP2 MRAS MRE11 MRM2 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS23 MRPS25 MRPS28 MRPS34 MRPS7 MRTFA MS4A1 MS4A2 MSH2 MSH3 MSH4 MSH5 MSH6 MSL3 MSMO1 MSN MSR1 MSRB3 MST1R MSTN MSTO1 MSX1 MSX2 MTAP MTFMT MTHFD1 MTHFR MTHFS MTM1 MTMR14 MTMR2 MTNR1B MTO1 MTOR MTPAP MTR MTRFR MTRR MTSS2 MTTP MTX2 MUC1 MUC5B MUC7 MUSK MUTYH MVD MVK MXI1 MYBPC1 MYBPC3 MYC MYCN MYD88 MYF5 MYH11 MYH14 MYH2 MYH3 MYH6 MYH7 MYH8 MYH9 MYL1 MYL11 MYL2 MYL3 MYL4 MYL9 MYLK MYLK2 MYMK MYMX MYO15A MYO18B MYO1E MYO1H MYO3A MYO5A MYO5B MYO6 MYO7A MYO9A MYOC MYOCD MYOD1 MYOF MYORG MYOT MYOZ2 MYPN MYRF MYSM1 MYT1L NAA10 NAA15 NAA20 NACC1 NADK2 NADSYN1 NAGA NAGLU NAGS NALCN NANOS1 NANS NAPB NARS1 NARS2 NAT8L NAXD NAXE NBAS NBEA NBEAL2 NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCDN NCF1 NCF2 NCF4 NCKAP1L NCSTN ND1 ND2 ND4 ND4L ND5 ND6 NDE1 NDNF NDP NDRG1 NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NECTIN4 NEDD4L NEFH NEFL NEK1 NEK10 NEK2 NEK8 NEK9 NEMF NEPRO NEU1 NEUROD1 NEUROD2 NEUROG3 NEXMIF NEXN NF1 NF2 NFASC NFE2L2 NFIA NFIB NFIX NFKB1 NFKB2 NFKBIA NFS1 NFU1 NGF NGLY1 NHERF1 NHLH2 NHLRC1 NHLRC2 NHP2 NHS NIN NIPA1 NIPAL4 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NKX3-2 NKX6-2 NLGN1 NLGN3 NLGN4X NLRC4 NLRP1 NLRP12 NLRP3 NLRP7 NME5 NME8 NMNAT1 NNT NOBOX NOD2 NODAL NOG NOL3 NONO NOP10 NOP56 NOS1AP NOS3 NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NOVA2 NPAP1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPM1 NPPA NPR2 NPR3 NPRL2 NPRL3 NQO2 NR0B1 NR0B2 NR1H4 NR2E3 NR2F1 NR2F2 NR3C1 NR3C2 NR4A2 NR4A3 NR5A1 NRAS NRCAM NRIP1 NRL NRROS NRXN1 NSD1 NSD2 NSDHL NSF NSMCE2 NSMCE3 NSMF NSRP1 NSUN2 NSUN3 NT5C2 NT5C3A NT5E NTHL1 NTN1 NTNG2 NTRK1 NTRK2 NUAK2 NUBPL NUDT15 NUDT2 NUMA1 NUP107 NUP133 NUP155 NUP160 NUP188 NUP205 NUP214 NUP37 NUP62 NUP85 NUP88 NUP93 NUS1 NUTM2B-AS1 NXN NYX OAS1 OAT OBSL1 OCA2 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODAPH ODC1 OFD1 OGDH OGDHL OGG1 OGT OPA1 OPA3 OPCML OPHN1 OPLAH OPN1LW OPN1MW OPN1SW OPTN ORAI1 ORC1 ORC4 ORC6 OSBPL2 OSGEP OSMR OSTM1 OTC OTOA OTOF OTOG OTOGL OTUD5 OTUD6B OTULIN OTX2 OVOL2 OXCT1 OXR1 P2RX2 P2RY12 P3H1 P3H2 P4HA2 P4HB P4HTM PABPN1 PACS1 PACS2 PADI3 PADI6 PAFAH1B1 PAICS PAK1 PAK2 PAK3 PALB2 PALLD PAM16 PANK2 PANK4 PANX1 PAPPA2 PAPSS2 PARK7 PARN PARS2 PATL2 PAX1 PAX2 PAX3 PAX4 PAX6 PAX7 PAX8 PAX9 PBRM1 PBX1 PC PCARE PCBD1 PCCA PCCB PCDH12 PCDH15 PCDH19 PCDHGC4 PCGF2 PCK1 PCK2 PCLO PCNA PCNT PCSK1 PCSK9 PCYT1A PCYT2 PDCD1 PDCD10 PDCD6IP PDE10A PDE11A PDE1C PDE2A PDE3A PDE4D PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDE8B PDGFB PDGFRA PDGFRB PDGFRL PDHA1 PDHA2 PDHB PDHX PDK3 PDLIM4 PDP1 PDSS1 PDSS2 PDX1 PDXK PDYN PDZD7 PDZD8 PEPD PER2 PER3 PERCC1 PERP PET100 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PFN1 PGAM2 PGAP1 PGAP2 PGAP3 PGK1 PGM1 PGM3 PGR PHACTR1 PHB1 PHC1 PHEX PHF21A PHF6 PHF8 PHGDH PHIP PHKA1 PHKA2 PHKB PHKG2 PHOX2A PHOX2B PHYH PI4KA PIBF1 PICALM PIDD1 PIEZO1 PIEZO2 PIGA PIGB PIGC PIGF PIGG PIGH PIGK PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R5 PIKFYVE PINK1 PIP5K1C PISD PITPNM3 PITRM1 PITX1 PITX2 PITX3 PJVK PKD1 PKD1L1 PKD2 PKDCC PKHD1 PKLR PKP1 PKP2 PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAA PLAG1 PLAU PLCB1 PLCB3 PLCB4 PLCD1 PLCE1 PLCG2 PLCH1 PLCZ1 PLD1 PLD3 PLEC PLEKHG2 PLEKHG5 PLEKHM1 PLG PLIN1 PLK4 PLN PLOD1 PLOD2 PLOD3 PLP1 PLPBP PLS1 PLVAP PLXNA1 PMFBP1 PMM2 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PMVK PNKD PNKP PNLDC1 PNLIP PNP PNPLA1 PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POC1B POF1B POFUT1 POGLUT1 POGZ POLA1 POLD1 POLE POLG POLG2 POLH POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POLR3B POLR3F POLR3GL POLR3K POLRMT POMC POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 POP1 POPDC3 POR PORCN POT1 POU1F1 POU3F3 POU3F4 POU4F1 POU4F3 POU6F2 PPA2 PPARG PPCS PPFIBP1 PPIB PPIL1 PPIP5K2 PPM1D PPM1K PPOX PPP1CB PPP1R12A PPP1R15B PPP1R17 PPP1R21 PPP1R3A PPP2CA PPP2R1A PPP2R1B PPP2R2B PPP2R3C PPP2R5D PPP3CA PPT1 PQBP1 PRCC PRCD PRDM12 PRDM13 PRDM16 PRDM5 PRDM6 PRDM8 PRDX1 PRDX3 PREPL PRF1 PRG4 PRICKLE1 PRICKLE3 PRIM1 PRIMPOL PRKACA PRKACB PRKACG PRKAG2 PRKAR1A PRKAR1B PRKCD PRKCG PRKCH PRKCSH PRKD1 PRKDC PRKG1 PRKG2 PRKN PRKRA PRLR PRMT7 PRNP PROC PRODH PROK2 PROKR2 PROM1 PROP1 PRORP PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRR12 PRRT2 PRRX1 PRSS1 PRSS12 PRSS2 PRSS56 PRUNE1 PRX PRY PRY2 PSAP PSAT1 PSEN1 PSEN2 PSENEN PSMB1 PSMB10 PSMB4 PSMB8 PSMB9 PSMC1 PSMC3 PSMC3IP PSMD12 PSMG2 PSPH PSTPIP1 PTCD3 PTCH1 PTCH2 PTCHD1 PTDSS1 PTEN PTF1A PTGER2 PTGIS PTH PTH1R PTHLH PTPN1 PTPN11 PTPN12 PTPN14 PTPN22 PTPN23 PTPRC PTPRF PTPRJ PTPRO PTPRQ PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PUS7 PWAR1 PWRN1 PXDN PYCR1 PYCR2 PYGL PYGM PYROXD1 QARS1 QDPR QRICH1 QRICH2 QRSL1 RAB11B RAB18 RAB23 RAB27A RAB28 RAB33B RAB39B RAB3GAP1 RAB3GAP2 RAB5IF RAB7A RABL3 RAC1 RAC2 RAC3 RACGAP1 RAD21 RAD50 RAD51 RAD51C RAD54B RAD54L RAF1 RAG1 RAG2 RAI1 RALA RALGAPA1 RANBP2 RAPGEF2 RAPSN RARA RARB RARS1 RARS2 RASA1 RASGRP1 RASGRP2 RAX RAX2 RB1 RB1CC1 RBBP8 RBCK1 RBL2 RBM10 RBM12 RBM20 RBM28 RBM8A RBMX RBMY1A1 RBP3 RBP4 RBPJ RCBTB1 RD3 RDH11 RDH12 RDH5 RDX REC114 RECQL4 REEP1 REEP2 REEP6 REL RELA RELB RELN RELT REN REPS1 RERE REST RET RETN RETREG1 RFC1 RFT1 RFWD3 RFX5 RFX6 RFXANK RFXAP RGR RGS9 RGS9BP RHAG RHBDF2 RHO RHOA RHOBTB2 RHOH RIC1 RIGI RILPL1 RIMS1 RIMS2 RIN2 RINT1 RIPK1 RIPK4 RIPOR2 RIPPLY2 RIT1 RLBP1 RLIM RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASEL RNASET2 RNF113A RNF125 RNF13 RNF139 RNF168 RNF170 RNF2 RNF212 RNF213 RNF216 RNF220 RNF43 RNF6 RNPC3 RNU4ATAC RNU7-1 ROBO2 ROBO3 ROBO4 ROGDI ROM1 ROR1 ROR2 RORA RORB RORC RP1 RP1L1 RP2 RP9 RPA1 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPL10 RPL10L RPL11 RPL13 RPL15 RPL18 RPL21 RPL26 RPL27 RPL35 RPL35A RPL3L RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS4Y2 RPS6KA3 RPS7 RPSA RRAS2 RRM2B RRP7A RS1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO2 RSPO4 RSPRY1 RSRC1 RTEL1 RTN2 RTN4IP1 RTN4R RTTN RUBCN RUNX1 RUNX2 RUSC2 RXYLT1 RYR1 RYR2 S1PR2 SACS SAG SALL1 SALL2 SALL4 SAMD12 SAMD9 SAMD9L SAMHD1 SAR1B SARS1 SARS2 SASH1 SASH3 SASS6 SATB1 SATB2 SBDS SBF1 SBF2 SC5D SCAPER SCARB2 SCARF2 SCD5 SCGB3A2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN8A SCN9A SCNM1 SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCP2 SCUBE3 SCYL1 SCYL2 SDC3 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23A SEC23B SEC24D SEC31A SEC61A1 SEC63 SECISBP2 SELENBP1 SELENOI SELENON SEMA3A SEMA3E SEMA4A SEMA6B SEMA7A SEPSECS SEPTIN12 SEPTIN9 SERAC1 SERPINA1 SERPINA6 SERPINB6 SERPINB7 SERPINB8 SERPINC1 SERPIND1 SERPINE1 SERPINF1 SERPINF2 SERPING1 SERPINH1 SERPINI1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SETX SF3B1 SF3B2 SF3B4 SFRP4 SFTPA1 SFTPA2 SFTPB SFTPC SFXN4 SGCA SGCB SGCD SGCE SGCG SGMS2 SGO1 SGPL1 SGSH SH2B3 SH2D1A SH3BP2 SH3GL1 SH3KBP1 SH3PXD2B SH3TC2 SHANK3 SHH SHMT2 SHOC1 SHOC2 SHOX SHQ1 SI SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIN3A SIPA1L3 SIX1 SIX3 SIX5 SIX6 SKI SKIC2 SKIC3 SLC10A1 SLC10A2 SLC10A7 SLC11A2 SLC12A1 SLC12A2 SLC12A3 SLC12A5 SLC12A6 SLC13A3 SLC13A5 SLC16A1 SLC16A12 SLC16A2 SLC17A5 SLC17A8 SLC17A9 SLC18A2 SLC18A3 SLC19A1 SLC19A2 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A12 SLC22A18 SLC22A5 SLC24A1 SLC24A4 SLC24A5 SLC25A1 SLC25A10 SLC25A11 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A24 SLC25A26 SLC25A3 SLC25A32 SLC25A38 SLC25A4 SLC25A42 SLC25A46 SLC26A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A9 SLC30A10 SLC30A2 SLC30A8 SLC30A9 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC36A2 SLC37A4 SLC38A3 SLC38A8 SLC39A13 SLC39A14 SLC39A4 SLC39A5 SLC39A7 SLC39A8 SLC3A1 SLC40A1 SLC41A1 SLC44A1 SLC44A4 SLC45A1 SLC45A2 SLC46A1 SLC4A1 SLC4A11 SLC4A4 SLC51A SLC51B SLC52A1 SLC52A2 SLC52A3 SLC5A1 SLC5A2 SLC5A5 SLC5A6 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A2 SLC6A20 SLC6A3 SLC6A4 SLC6A5 SLC6A6 SLC6A8 SLC6A9 SLC7A14 SLC7A6OS SLC7A7 SLC7A9 SLC9A1 SLC9A3 SLC9A6 SLC9A7 SLCO1B1 SLCO1B3 SLCO2A1 SLFN14 SLITRK1 SLITRK6 SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMAD9 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMG9 SMN1 SMN2 SMO SMOC1 SMOC2 SMPD1 SMPD4 SMPX SMS SNAI2 SNAP25 SNAP29 SNCA SNCAIP SNCB SNIP1 SNORA31 SNORD115-1 SNORD116-1 SNORD118 SNRNP200 SNRPB SNRPE SNRPN SNTA1 SNX10 SNX14 SOBP SOCS1 SOD1 SOHLH1 SON SORD SOS1 SOS2 SOST SOX10 SOX11 SOX17 SOX18 SOX2 SOX3 SOX4 SOX5 SOX6 SOX9 SP110 SP6 SP7 SPAG1 SPAG17 SPARC SPART SPAST SPATA16 SPATA5 SPATA5L1 SPATA7 SPECC1L SPEF2 SPEG SPEN SPG11 SPG21 SPG7 SPI1 SPIDR SPINK1 SPINK2 SPINK5 SPINT2 SPNS2 SPOP SPPL2A SPR SPRED1 SPRED2 SPRTN SPRY2 SPRY4 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTLC1 SPTLC2 SQOR SQSTM1 SRA1 SRC SRCAP SRD5A2 SRD5A3 SREBF1 SRGAP1 SRP54 SRP72 SRPX2 SRY SSBP1 SSR4 SSX1 SSX2 ST14 ST3GAL3 ST3GAL5 STAC3 STAG1 STAG2 STAG3 STAMBP STAR STARD7 STAT1 STAT2 STAT3 STAT5B STEAP3 STEEP1 STIL STIM1 STING1 STK11 STK36 STK4 STN1 STOX1 STRA6 STRADA STRC STS STT3A STT3B STUB1 STX11 STX16 STX1B STX3 STXBP1 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SULT2B1 SUMF1 SUMO1 SUN5 SUOX SUPT16H SURF1 SUZ12 SVBP SVIL SYCE1 SYCP2 SYCP3 SYK SYN1 SYN2 SYNE1 SYNE2 SYNE4 SYNGAP1 SYNJ1 SYP SYT1 SYT14 SYT2 SZT2 TAB2 TAC3 TACO1 TACR3 TACSTD2 TAF1 TAF13 TAF15 TAF2 TAF4B TAF6 TAF8 TAFAZZIN TAL1 TAL2 TALDO1 TANC2 TANGO2 TAOK1 TAP1 TAP2 TAPBP TAPT1 TARDBP TARS1 TARS2 TAS2R16 TASP1 TAT TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBC1D8B TBCD TBCE TBCK TBK1 TBL1X TBL1XR1 TBL1Y TBP TBR1 TBX1 TBX15 TBX18 TBX19 TBX2 TBX20 TBX21 TBX22 TBX3 TBX4 TBX5 TBX6 TBXA2R TBXAS1 TBXT TCAP TCF12 TCF20 TCF3 TCF4 TCF7L2 TCHH TCIRG1 TCN2 TCOF1 TCTN1 TCTN2 TCTN3 TDP1 TDP2 TDRD7 TDRD9 TEAD1 TECPR2 TECR TECRL TECTA TEK TELO2 TENM3 TENM4 TENT5A TERB1 TERB2 TERC TERT TET2 TET3 TEX11 TEX14 TEX15 TF TFAM TFAP2A TFAP2B TFE3 TFG TFR2 TFRC TG TGDS TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TGM1 TGM3 TGM5 TGM6 TH THAP1 THBD THG1L THOC2 THOC6 THPO THRA THRB THSD1 THSD4 THUMPD1 TIA1 TIAM1 TICAM1 TIE1 TIMELESS TIMM22 TIMM50 TIMM8A TIMMDC1 TIMP3 TINF2 TJP2 TK2 TKFC TKT TLCD3B TLE6 TLK2 TLL1 TLR2 TLR3 TLR7 TLR8 TM4SF20 TMC1 TMC6 TMC8 TMCO1 TMEM106B TMEM107 TMEM126A TMEM126B TMEM127 TMEM132E TMEM138 TMEM147 TMEM165 TMEM199 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM260 TMEM38B TMEM43 TMEM53 TMEM63A TMEM63C TMEM67 TMEM70 TMEM94 TMEM98 TMIE TMLHE TMPRSS15 TMPRSS3 TMPRSS6 TMTC3 TMX2 TNC TNF TNFAIP3 TNFRSF10B TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFSF11 TNIK TNNC1 TNNI2 TNNI3 TNNI3K TNNT1 TNNT2 TNNT3 TNPO2 TNPO3 TNR TNRC6A TNRC6B TNXB TOE1 TOGARAM1 TOM1 TONSL TOP3A TOPORS TOR1A TOR1AIP1 TP53 TP53RK TP63 TP73 TPH2 TPI1 TPK1 TPM1 TPM2 TPM3 TPMT TPO TPP1 TPP2 TPRKB TPRN TRAC TRAF3IP1 TRAF3IP2 TRAF7 TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC14 TRAPPC2 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TRDN TREH TREM2 TREX1 TRH TRHR TRIM2 TRIM32 TRIM36 TRIM37 TRIM44 TRIM71 TRIM8 TRIO TRIOBP TRIP11 TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT10C TRMT5 TRMU TRNC TRNF TRNI TRNK TRNL1 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TRPA1 TRPC3 TRPC6 TRPM1 TRPM4 TRPM6 TRPM7 TRPS1 TRPV3 TRPV4 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSGA10 TSHB TSHR TSHZ1 TSPAN12 TSPAN7 TSPEAR TSPYL1 TSR2 TTBK2 TTC12 TTC19 TTC21A TTC21B TTC26 TTC29 TTC5 TTC7A TTC8 TTI2 TTLL5 TTN TTPA TTR TUB TUBA1A TUBA3D TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TUFM TULP1 TULP3 TUSC3 TWIST1 TWIST2 TWNK TXN2 TXNDC15 TXNL4A TXNRD2 TYK2 TYMP TYMS TYR TYROBP TYRP1 UBA1 UBA2 UBA5 UBAP1 UBE2A UBE2T UBE3A UBE3B UBE4A UBIAD1 UBQLN2 UBR1 UBR7 UBTF UCHL1 UCP3 UFC1 UFM1 UFSP2 UGDH UGP2 UGT1A1 UMOD UMPS UNC119 UNC13D UNC45A UNC45B UNC80 UNC93B1 UNG UPB1 UPF3B UQCC2 UQCC3 UQCRB UQCRC1 UQCRC2 UQCRFS1 UQCRQ UROC1 UROD UROS USB1 USH1C USH1G USH2A USP18 USP27X USP45 USP53 USP7 USP8 USP9X USP9Y UVSSA VAC14 VAMP1 VAMP2 VANGL1 VANGL2 VAPB VARS1 VARS2 VAX1 VCAN VCL VCP VCY VDR VEGFC VHL VIM VIPAS39 VKORC1 VLDLR VMA21 VPS11 VPS13A VPS13B VPS13C VPS13D VPS16 VPS33A VPS33B VPS35 VPS35L VPS37A VPS41 VPS45 VPS4A VPS50 VPS51 VPS53 VRK1 VSX1 VSX2 VWA1 VWA3B VWF WAC WARS1 WARS2 WAS WASF1 WASHC4 WASHC5 WBP11 WBP2 WDFY3 WDPCP WDR1 WDR11 WDR19 WDR26 WDR35 WDR37 WDR4 WDR45 WDR45B WDR62 WDR72 WDR73 WDR81 WEE2 WFS1 WHRN WIPF1 WIPI2 WLS WNK1 WNK4 WNT1 WNT10A WNT10B WNT2B WNT3 WNT4 WNT5A WNT7A WRAP53 WRN WT1 WWOX XDH XIAP XK XPA XPC XPNPEP3 XPR1 XRCC1 XRCC2 XRCC3 XRCC4 XYLT1 XYLT2 YAP1 YARS1 YARS2 YEATS2 YIF1B YIPF5 YME1L1 YRDC YWHAG YY1 YY1AP1 ZAP70 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZBTB42 ZBTB7A ZC3H14 ZC4H2 ZCCHC8 ZDHHC9 ZEB1 ZEB2 ZFHX2 ZFHX3 ZFHX4 ZFP57 ZFPM2 ZFYVE19 ZFYVE26 ZFYVE27 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND11 ZMYND15 ZNF141 ZNF142 ZNF148 ZNF292 ZNF335 ZNF341 ZNF407 ZNF408 ZNF423 ZNF462 ZNF469 ZNF513 ZNF526 ZNF644 ZNF687 ZNF699 ZNF711 ZNF750 ZNFX1 ZNHIT3 ZP1 ZP2 ZP3 ZPBP ZPR1 ZSWIM6 ZSWIM7

Diseases (6023) :OMIM:166760 OMIM:111400 OMIM:231550 OMIM:148600 OMIM:613287 OMIM:616339 OMIM:619661 OMIM:619691 OMIM:614096 OMIM:615889 OMIM:238700 OMIM:613163 OMIM:604091 OMIM:205400 OMIM:601277 OMIM:242500 OMIM:618808 OMIM:610921 OMIM:604116 OMIM:153800 OMIM:601718 OMIM:248200 OMIM:135400 OMIM:608907 OMIM:605479 OMIM:601847 OMIM:614972 OMIM:602347 OMIM:600803 OMIM:615402 OMIM:614497 OMIM:609153 OMIM:301310 OMIM:618915 OMIM:237500 OMIM:614473 OMIM:177850 OMIM:264800 OMIM:125853 OMIM:618857 OMIM:610374 OMIM:256450 OMIM:240800 OMIM:614050 OMIM:608569 OMIM:239850 OMIM:619719 OMIM:300100 OMIM:616278 OMIM:614857 OMIM:618666 OMIM:611465 OMIM:210250 OMIM:612674 OMIM:619735 OMIM:275630 OMIM:617602 OMIM:608232 OMIM:613933 OMIM:611283 OMIM:611126 OMIM:201450 OMIM:201470 OMIM:610006 OMIM:201475 OMIM:165800 OMIM:612813 OMIM:608361 OMIM:203750 OMIM:614055 OMIM:618863 OMIM:616553 OMIM:267430 OMIM:617762 OMIM:619215 OMIM:614559 OMIM:616289 OMIM:618960 OMIM:264470 OMIM:617308 OMIM:617297 OMIM:607944 OMIM:614265 OMIM:300387 OMIM:255310 OMIM:616852 OMIM:161800 OMIM:611788 OMIM:614042 OMIM:613834 OMIM:243310 OMIM:607371 OMIM:612794 OMIM:613424 OMIM:612098 OMIM:614583 OMIM:604717 OMIM:619431 OMIM:155310 OMIM:618468 OMIM:618470 OMIM:619258 OMIM:615193 OMIM:612158 OMIM:618654 OMIM:618655 OMIM:603278 OMIM:135100 OMIM:613751 OMIM:600376 OMIM:609924 OMIM:102700 OMIM:182410 OMIM:615688 OMIM:615537 OMIM:614328 OMIM:617933 OMIM:612775 OMIM:277600 OMIM:274150 OMIM:613195 OMIM:615458 OMIM:620067 OMIM:225410 OMIM:618154 OMIM:231050 OMIM:225100 OMIM:225200 OMIM:615010 OMIM:127400 OMIM:618862 OMIM:615286 OMIM:610154 OMIM:143870 OMIM:617885 OMIM:619647 OMIM:606703 OMIM:619651 OMIM:616287 OMIM:145500 OMIM:617008 OMIM:125630 OMIM:606854 OMIM:615752 OMIM:300985 OMIM:616503 OMIM:620065 OMIM:604352 OMIM:605472 OMIM:103780 OMIM:168600 OMIM:619151 OMIM:614300 OMIM:615873 OMIM:618170 OMIM:600807 OMIM:601665 OMIM:103050 OMIM:617030 OMIM:618000 OMIM:309548 OMIM:619297 OMIM:616368 OMIM:618977 OMIM:614487 OMIM:610246 OMIM:615969 OMIM:208400 OMIM:615523 OMIM:617023 OMIM:614691 OMIM:212350 OMIM:232400 OMIM:619149 OMIM:608594 OMIM:600121 OMIM:615120 OMIM:618276 OMIM:259900 OMIM:613752 OMIM:615829 OMIM:608629 OMIM:618345 OMIM:203650 OMIM:605258 OMIM:300816 OMIM:310490 OMIM:300614 OMIM:300232 OMIM:260600 OMIM:618006 OMIM:219090 OMIM:102200 OMIM:604393 OMIM:268000 OMIM:240300 OMIM:612631 OMIM:267500 OMIM:617965 OMIM:611820 OMIM:614279 OMIM:235555 OMIM:114480 OMIM:114500 OMIM:615109 OMIM:167000 OMIM:176920 OMIM:240900 OMIM:615937 OMIM:612740 OMIM:300751 OMIM:300752 OMIM:616000 OMIM:616603 OMIM:219150 OMIM:601162 OMIM:616586 OMIM:620025 OMIM:615113 OMIM:610251 OMIM:270200 OMIM:239510 OMIM:271980 OMIM:614105 OMIM:266100 OMIM:611881 OMIM:229600 OMIM:608540 OMIM:613688 OMIM:613661 OMIM:607143 OMIM:300884 OMIM:619031 OMIM:616227 OMIM:619036 OMIM:607906 OMIM:616228 OMIM:601110 OMIM:620056 OMIM:603147 OMIM:608104 OMIM:617874 OMIM:608776 OMIM:263210 OMIM:618504 OMIM:203800 OMIM:242100 OMIM:601367 OMIM:606545 OMIM:614979 OMIM:618052 OMIM:146300 OMIM:241510 OMIM:241500 OMIM:205100 OMIM:606353 OMIM:607225 OMIM:613456 OMIM:136760 OMIM:615529 OMIM:613451 OMIM:609597 OMIM:614307 OMIM:214950 OMIM:616270 OMIM:301200 OMIM:300373 OMIM:261550 OMIM:300990 OMIM:618882 OMIM:615511 OMIM:615809 OMIM:615686 OMIM:605899 OMIM:617607 OMIM:618625 OMIM:619699 OMIM:611895 OMIM:619361 OMIM:619369 OMIM:605019 OMIM:615881 OMIM:182900 OMIM:600919 OMIM:615493 OMIM:118600 OMIM:123000 OMIM:616681 OMIM:148050 OMIM:619504 OMIM:188000 OMIM:615382 OMIM:616032 OMIM:620045 OMIM:613728 OMIM:615034 OMIM:166260 OMIM:613319 OMIM:611307 OMIM:262890 OMIM:308700 OMIM:230740 OMIM:602089 OMIM:228600 OMIM:617839 OMIM:619733 OMIM:614391 OMIM:619565 OMIM:242150 OMIM:619467 OMIM:619548 OMIM:609313 OMIM:304340 OMIM:616106 OMIM:618587 OMIM:600740 OMIM:608233 OMIM:617276 OMIM:617050 OMIM:614066 OMIM:613744 OMIM:184450 OMIM:612936 OMIM:614067 OMIM:613647 OMIM:175100 OMIM:135290 OMIM:619182 OMIM:613659 OMIM:114550 OMIM:618677 OMIM:617169 OMIM:605389 OMIM:105200 OMIM:618463 OMIM:619836 OMIM:143890 OMIM:144650 OMIM:145750 OMIM:144010 OMIM:615558 OMIM:207750 OMIM:104310 OMIM:607822 OMIM:606889 OMIM:603075 OMIM:269600 OMIM:612551 OMIM:181500 OMIM:104300 OMIM:605714 OMIM:616511 OMIM:614723 OMIM:208920 OMIM:125800 OMIM:600231 OMIM:300068 OMIM:300633 OMIM:176807 OMIM:312300 OMIM:313200 OMIM:617164 OMIM:618185 OMIM:619964 OMIM:608097 OMIM:207800 OMIM:607785 OMIM:100300 OMIM:615244 OMIM:618459 OMIM:608236 OMIM:617433 OMIM:617523 OMIM:300607 OMIM:614607 OMIM:135900 OMIM:617808 OMIM:612291 OMIM:619082 OMIM:615434 OMIM:618161 OMIM:618173 OMIM:209900 OMIM:600151 OMIM:613575 OMIM:615685 OMIM:618433 OMIM:615954 OMIM:617622 OMIM:615926 OMIM:617718 OMIM:620141 OMIM:301010 OMIM:250100 OMIM:253200 OMIM:618144 OMIM:619698 OMIM:302950 OMIM:617020 OMIM:300004 OMIM:308350 OMIM:300215 OMIM:300419 OMIM:309510 OMIM:228000 OMIM:159950 OMIM:603383 OMIM:614266 OMIM:616867 OMIM:617796 OMIM:207900 OMIM:615574 OMIM:271900 OMIM:601552 OMIM:608716 OMIM:607850 OMIM:146750 OMIM:606243 OMIM:215700 OMIM:619643 OMIM:605039 OMIM:614286 OMIM:617190 OMIM:615485 OMIM:618011 OMIM:617183 OMIM:618810 OMIM:601238 OMIM:616517 OMIM:617584 OMIM:619422 OMIM:608688 OMIM:613708 OMIM:182600 OMIM:615632 OMIM:208900 OMIM:618494 OMIM:125370 OMIM:221900 OMIM:619810 OMIM:619851 OMIM:301015 OMIM:606693 OMIM:617225 OMIM:265400 OMIM:618036 OMIM:618314 OMIM:104290 OMIM:619605 OMIM:619602 OMIM:602481 OMIM:614820 OMIM:601338 OMIM:619606 OMIM:128235 OMIM:601003 OMIM:101900 OMIM:124200 OMIM:619910 OMIM:619804 OMIM:601386 OMIM:302500 OMIM:169600 OMIM:616045 OMIM:615228 OMIM:618120 OMIM:614053 OMIM:619681 OMIM:618683 OMIM:535000 OMIM:551500 OMIM:300972 OMIM:301045 OMIM:300423 OMIM:300911 OMIM:619971 OMIM:619970 OMIM:219200 OMIM:278250 OMIM:602722 OMIM:617403 OMIM:618012 OMIM:267300 OMIM:124480 OMIM:616455 OMIM:617402 OMIM:309400 OMIM:304150 OMIM:300489 OMIM:277900 OMIM:615268 OMIM:243300 OMIM:147480 OMIM:211600 OMIM:604273 OMIM:614564 OMIM:210600 OMIM:301040 OMIM:309580 OMIM:164400 OMIM:603516 OMIM:183090 OMIM:109150 OMIM:164500 OMIM:608768 OMIM:250950 OMIM:243060 OMIM:615834 OMIM:618594 OMIM:125700 OMIM:304800 OMIM:300539 OMIM:608615 OMIM:146110 OMIM:241600 OMIM:615181 OMIM:609465 OMIM:615349 OMIM:271640 OMIM:245600 OMIM:261540 OMIM:609195 OMIM:607091 OMIM:130070 OMIM:615287 OMIM:617120 OMIM:614209 OMIM:614175 OMIM:619232 OMIM:618394 OMIM:613881 OMIM:612954 OMIM:619747 OMIM:614008 OMIM:619762 OMIM:606661 OMIM:614327 OMIM:613065 OMIM:615995 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:616562 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615986 OMIM:300475 OMIM:619641 OMIM:618850 OMIM:617936 OMIM:248600 OMIM:616098 OMIM:156240 OMIM:273300 OMIM:617101 OMIM:617237 OMIM:618092 OMIM:115300 OMIM:309800 OMIM:300166 OMIM:301029 OMIM:262000 OMIM:603358 OMIM:124000 OMIM:618257 OMIM:117210 OMIM:611809 OMIM:153700 OMIM:613194 OMIM:193220 OMIM:611391 OMIM:611597 OMIM:300989 OMIM:300106 OMIM:607539 OMIM:609432 OMIM:601331 OMIM:615290 OMIM:618291 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OMIM:151623 OMIM:607107 OMIM:260500 OMIM:617730 OMIM:103285 OMIM:106260 OMIM:604292 OMIM:603543 OMIM:129400 OMIM:605289 OMIM:619466 OMIM:613003 OMIM:615512 OMIM:614458 OMIM:611878 OMIM:115196 OMIM:108120 OMIM:609285 OMIM:609284 OMIM:610460 OMIM:274500 OMIM:204500 OMIM:609270 OMIM:619220 OMIM:617731 OMIM:613307 OMIM:615387 OMIM:616629 OMIM:615527 OMIM:618164 OMIM:616777 OMIM:618201 OMIM:620027 OMIM:615356 OMIM:617669 OMIM:618351 OMIM:313400 OMIM:618331 OMIM:618741 OMIM:617862 OMIM:613192 OMIM:615441 OMIM:612119 OMIM:618193 OMIM:225750 OMIM:610448 OMIM:192315 OMIM:275120 OMIM:618573 OMIM:615490 OMIM:615988 OMIM:254110 OMIM:206500 OMIM:253250 OMIM:617142 OMIM:618667 OMIM:619428 OMIM:618825 OMIM:617061 OMIM:609823 OMIM:200600 OMIM:184260 OMIM:617752 OMIM:617598 OMIM:619011 OMIM:617066 OMIM:616866 OMIM:617873 OMIM:618302 OMIM:616033 OMIM:616974 OMIM:616539 OMIM:580000 OMIM:613070 OMIM:545000 OMIM:551000 OMIM:616959 OMIM:616084 OMIM:615040 OMIM:616410 OMIM:603965 OMIM:613216 OMIM:618531 OMIM:604559 OMIM:602014 OMIM:105500 OMIM:190350 OMIM:190351 OMIM:614594 OMIM:616400 OMIM:617383 OMIM:113500 OMIM:606835 OMIM:606071 OMIM:156530 OMIM:168400 OMIM:181405 OMIM:600175 OMIM:184095 OMIM:184252 OMIM:618188 OMIM:618778 OMIM:618454 OMIM:606690 OMIM:191100 OMIM:617026 OMIM:612389 OMIM:612390 OMIM:277470 OMIM:225753 OMIM:610204 OMIM:610505 OMIM:617961 OMIM:275100 OMIM:603373 OMIM:609152 OMIM:275200 OMIM:607842 OMIM:613310 OMIM:300210 OMIM:614861 OMIM:618180 OMIM:608800 OMIM:300946 OMIM:604432 OMIM:618801 OMIM:615157 OMIM:618429 OMIM:613820 OMIM:613819 OMIM:619534 OMIM:618745 OMIM:619244 OMIM:243150 OMIM:615985 OMIM:613464 OMIM:615541 OMIM:615860 OMIM:604145 OMIM:613765 OMIM:608807 OMIM:603689 OMIM:611705 OMIM:600334 OMIM:277460 OMIM:105210 OMIM:115430 OMIM:616188 OMIM:611603 OMIM:617928 OMIM:616208 OMIM:619840 OMIM:615771 OMIM:156610 OMIM:613112 OMIM:615763 OMIM:610031 OMIM:614039 OMIM:600638 OMIM:128101 OMIM:612438 OMIM:617879 OMIM:617732 OMIM:616780 OMIM:615412 OMIM:618737 OMIM:616335 OMIM:251270 OMIM:610678 OMIM:613843 OMIM:600132 OMIM:619902 OMIM:611093 OMIM:123100 OMIM:180750 OMIM:617746 OMIM:200110 OMIM:209885 OMIM:227260 OMIM:271245 OMIM:616138 OMIM:609286 OMIM:616811 OMIM:619879 OMIM:608572 OMIM:617825 OMIM:611521 OMIM:620040 OMIM:203100 OMIM:606952 OMIM:221770 OMIM:203290 OMIM:301830 OMIM:301054 OMIM:619959 OMIM:617132 OMIM:617133 OMIM:618418 OMIM:300860 OMIM:616435 OMIM:244450 OMIM:619639 OMIM:121800 OMIM:300857 OMIM:243800 OMIM:619189 OMIM:617672 OMIM:613643 OMIM:615491 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:142669 OMIM:617974 OMIM:618792 OMIM:618744 OMIM:218800 OMIM:606785 OMIM:237900 OMIM:162000 OMIM:258900 OMIM:615518 OMIM:608898 OMIM:619377 OMIM:616279 OMIM:619178 OMIM:616801 OMIM:610551 OMIM:608106 OMIM:613161 OMIM:300676 OMIM:615824 OMIM:616111 OMIM:615158 OMIM:619279 OMIM:615160 OMIM:618775 OMIM:615159 OMIM:276880 OMIM:263700 OMIM:604173 OMIM:602092 OMIM:276904 OMIM:606943 OMIM:613809 OMIM:617397 OMIM:300984 OMIM:618513 OMIM:619658 OMIM:616863 OMIM:300968 OMIM:300919 OMIM:614640 OMIM:617054 OMIM:618323 OMIM:108600 OMIM:618760 OMIM:600145 OMIM:608627 OMIM:182980 OMIM:617802 OMIM:615917 OMIM:614402 OMIM:143200 OMIM:611407 OMIM:613255 OMIM:613954 OMIM:616687 OMIM:167320 OMIM:277440 OMIM:615907 OMIM:263400 OMIM:116300 OMIM:613404 OMIM:607473 OMIM:224050 OMIM:310440 OMIM:619637 OMIM:616683 OMIM:200150 OMIM:216550 OMIM:616840 OMIM:607317 OMIM:619291 OMIM:617303 OMIM:620010 OMIM:620009 OMIM:208085 OMIM:614203 OMIM:619135 OMIM:614898 OMIM:619389 OMIM:615285 OMIM:619273 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:607596 OMIM:614195 OMIM:148300 OMIM:610093 OMIM:610092 OMIM:619216 OMIM:616948 OMIM:193400 OMIM:613554 OMIM:277480 OMIM:616708 OMIM:617721 OMIM:617710 OMIM:619738 OMIM:300299 OMIM:313900 OMIM:301000 OMIM:618707 OMIM:615817 OMIM:220210 OMIM:603563 OMIM:619227 OMIM:617639 OMIM:617520 OMIM:615992 OMIM:217085 OMIM:150550 OMIM:614858 OMIM:619867 OMIM:614378 OMIM:614377 OMIM:616307 OMIM:614376 OMIM:617616 OMIM:613610 OMIM:614091 OMIM:618652 OMIM:618347 OMIM:618346 OMIM:300894 OMIM:617977 OMIM:604317 OMIM:613211 OMIM:251300 OMIM:610185 OMIM:617967 OMIM:617996 OMIM:116400 OMIM:600965 OMIM:222300 OMIM:614296 OMIM:607084 OMIM:611383 OMIM:614493 OMIM:618453 OMIM:619648 OMIM:614492 OMIM:614491 OMIM:615220 OMIM:257980 OMIM:224750 OMIM:150400 OMIM:225300 OMIM:617073 OMIM:618168 OMIM:273395 OMIM:611812 OMIM:158330 OMIM:228930 OMIM:276820 OMIM:613988 OMIM:277700 OMIM:194080 OMIM:136680 OMIM:608978 OMIM:256370 OMIM:616211 OMIM:614322 OMIM:278300 OMIM:300635 OMIM:300842 OMIM:278700 OMIM:278720 OMIM:613159 OMIM:616413 OMIM:617633 OMIM:617247 OMIM:619146 OMIM:619145 OMIM:616541 OMIM:615777 OMIM:605822 OMIM:120433 OMIM:608323 OMIM:619418 OMIM:613561 OMIM:615127 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:619609 OMIM:617665 OMIM:617557 OMIM:602531 OMIM:617006 OMIM:269840 OMIM:618383 OMIM:612337 OMIM:259050 OMIM:614069 OMIM:616248 OMIM:619769 OMIM:617125 OMIM:314580 OMIM:301041 OMIM:618674 OMIM:300799 OMIM:609141 OMIM:235730 OMIM:147430 OMIM:178300 OMIM:616067 OMIM:619849 OMIM:270700 OMIM:610244 OMIM:616602 OMIM:618736 OMIM:609637 OMIM:306955 OMIM:618659 OMIM:608612 OMIM:275210 OMIM:619522 OMIM:615444 OMIM:616083 OMIM:615842 OMIM:615226 OMIM:618425 OMIM:617260 OMIM:619188 OMIM:615095 OMIM:618282 OMIM:619557 OMIM:616468 OMIM:616469 OMIM:614844 OMIM:618619 OMIM:229200 OMIM:613617 OMIM:619877 OMIM:614167 OMIM:616833 OMIM:619488 OMIM:300803 OMIM:610227 OMIM:619644 OMIM:260565 OMIM:615774 OMIM:618353 OMIM:617712 OMIM:619799 OMIM:619321 OMIM:603671 OMIM:617865 OMIM:619834 OMIM:619831

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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