Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP: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,