Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1		162	13666	605378
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1		174	13666	605378
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1			20	601065
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AARS2 CL E G H	57505	614096	Combined oxidative phosphorylation deficiency 8	614096	C3279793	OMIM	1		338	21022	612035
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AARS2 CL E G H	57505	614096	Combined oxidative phosphorylation deficiency 8	614096	C3279793	OMIM	1		387	21022	612035
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1		338	21022	612035
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1		387	21022	612035
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1		97	17366	605113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1		108	17366	605113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1		97	17366	605113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1		108	17366	605113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABAT CL E G H	18	613163	Gamma-aminobutyric acid transaminase deficiency	613163	C0342708	OMIM	1		417	23	137150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABAT CL E G H	18	613163	Gamma-aminobutyric acid transaminase deficiency	613163	C0342708	OMIM	1		507	23	137150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1		576	29	600046
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1		664	29	600046
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1		336	14637	607800
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	1		361	14637	607800
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA12 CL E G H	26154	242500	Autosomal recessive congenital ichthyosis 4B	242500	C0239849	OMIM	1		336	14637	607800
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA12 CL E G H	26154	242500	Autosomal recessive congenital ichthyosis 4B	242500	C0239849	OMIM	1		361	14637	607800
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA3 CL E G H	21	610921	Surfactant metabolism dysfunction, pulmonary, 3	610921	C1970456	OMIM	1		418	33	601615
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA3 CL E G H	21	610921	Surfactant metabolism dysfunction, pulmonary, 3	610921	C1970456	OMIM	1		454	33	601615
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1		2128	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1		2534	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	601718	Retinitis pigmentosa 19	601718	C1866422	OMIM	1		2128	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	601718	Retinitis pigmentosa 19	601718	C1866422	OMIM	1		2534	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	248200	Stargardt disease 1	248200	C1855465	OMIM	1		2128	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	248200	Stargardt disease 1	248200	C1855465	OMIM	1		2534	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA5 CL E G H	23461	135400	Gingival fibromatosis with hypertrichosis	135400	C1851120	OMIM	1		50	35	612503
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB11 CL E G H	8647	605479	Benign recurrent intrahepatic cholestasis 2	605479	C2608083	OMIM	1		762	42	603201
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB11 CL E G H	8647	605479	Benign recurrent intrahepatic cholestasis 2	605479	C2608083	OMIM	1		808	42	603201
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1		762	42	603201
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1		808	42	603201
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1		412	45	171060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1		425	45	171060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1		412	45	171060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1		425	45	171060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC2 CL E G H	1244	237500	Dubin-Johnson syndrome	237500	C0022350	OMIM	1		421	53	601107
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC2 CL E G H	1244	237500	Dubin-Johnson syndrome	237500	C0022350	OMIM	1		424	53	601107
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC6 CL E G H	368	614473	Generalized arterial calcification of infancy 2	614473	C3276161	OMIM	1		914	57	603234
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC6 CL E G H	368	614473	Generalized arterial calcification of infancy 2	614473	C3276161	OMIM	1		1137	57	603234
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1		914	57	603234
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1		1137	57	603234
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1		1125	59	600509
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1		1253	59	600509
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1		1125	59	600509
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1		1253	59	600509
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1		1125	59	600509
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1		1253	59	600509
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1		28	67	170995
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1		37	67	170995
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1		259	68	603214
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1		285	68	603214
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCG5 CL E G H	64240	210250	Sitosterolemia	210250	C0342907	OMIM	1		279	13886	605459
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCG5 CL E G H	64240	210250	Sitosterolemia	210250	C0342907	OMIM	1		302	13886	605459
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCG8 CL E G H	64241	210250	Sitosterolemia	210250	C0342907	OMIM	1		389	13887	605460
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCG8 CL E G H	64241	210250	Sitosterolemia	210250	C0342907	OMIM	1		417	13887	605460
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1		314	15868	613599
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1		389	15868	613599
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1		173	21396	604780
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1		184	21396	604780
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1		141	84	200350
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1		153	84	200350
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAD8 CL E G H	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	611283	C1969809	OMIM	1		269	87	604773
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAD8 CL E G H	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	611283	C1969809	OMIM	1		291	87	604773
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1		427	21497	611103
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1		478	21497	611103
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1		491	89	607008
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1		559	89	607008
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1		262	90	606885
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1		294	90	606885
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1		275	91	600301
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1		290	91	600301
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1		978	92	609575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1		1116	92	609575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAN CL E G H	176	612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	612813	C2748544	OMIM	1		359	319	155760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAN CL E G H	176	612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	612813	C2748544	OMIM	1		456	319	155760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAT1 CL E G H	38	203750	Deficiency of acetyl-CoA acetyltransferase	203750	C1536500	OMIM	1		366	93	607809
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACAT1 CL E G H	38	203750	Deficiency of acetyl-CoA acetyltransferase	203750	C1536500	OMIM	1		412	93	607809
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1		229	25070	609377
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1		321	25070	609377
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1		274	2707	106180
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1		295	2707	106180
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1		284	118	100850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1		410	118	100850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACO2 CL E G H	50	616289	Optic atrophy 9	616289	C4225384	OMIM	1		284	118	100850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACO2 CL E G H	50	616289	Optic atrophy 9	616289	C4225384	OMIM	1		410	118	100850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1		388	119	609751
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1		435	119	609751
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACOX2 CL E G H	8309	617308	Bile acid synthesis defect, congenital, 6	617308	C4310624	OMIM	1		41	120	601641
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACOX2 CL E G H	8309	617308	Bile acid synthesis defect, congenital, 6	617308	C4310624	OMIM	1		58	120	601641
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1		25	123	171650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1		27	123	171650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACP4 CL E G H	93650	617297	Amelogenesis imperfecta, type IJ	617297	C4310630	OMIM	1		30	14376	606362
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACP4 CL E G H	93650	617297	Amelogenesis imperfecta, type IJ	617297	C4310630	OMIM	1		31	14376	606362
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1		149	124	171640
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1		197	124	171640
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACSF3 CL E G H	197322	614265	Combined malonic and methylmalonic aciduria	614265	C3280314	OMIM	1		570	27288	614245
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACSF3 CL E G H	197322	614265	Combined malonic and methylmalonic aciduria	614265	C3280314	OMIM	1		615	27288	614245
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1		325	129	102610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1		362	129	102610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1		325	129	102610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1		362	129	102610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1		322	132	102630
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1		349	132	102630
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1		63	177	104620
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1		78	177	104620
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADA CL E G H	100	102700	Severe combined immunodeficiency due to ADA deficiency	102700	C1863236	OMIM	1		341	186	608958
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADA CL E G H	100	102700	Severe combined immunodeficiency due to ADA deficiency	102700	C1863236	OMIM	1		387	186	608958
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1		310	1839	607575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1		390	1839	607575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1		310	1839	607575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1		390	1839	607575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAM17 CL E G H	6868	614328	Inflammatory skin and bowel disease, neonatal 1	614328	C3280501	OMIM	1		263	195	603639
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAM17 CL E G H	6868	614328	Inflammatory skin and bowel disease, neonatal 1	614328	C3280501	OMIM	1		329	195	603639
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAM9 CL E G H	8754	612775	Cone-rod dystrophy 9	612775	C1423873	OMIM	1		257	216	602713
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAM9 CL E G H	8754	612775	Cone-rod dystrophy 9	612775	C1423873	OMIM	1		315	216	602713
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS10 CL E G H	81794	277600	Weill-Marchesani syndrome 1	277600	C1869114	OMIM	1		241	13201	608990
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS10 CL E G H	81794	277600	Weill-Marchesani syndrome 1	277600	C1869114	OMIM	1		363	13201	608990
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS13 CL E G H	11093	274150	Upshaw-Schulman syndrome	274150	C1268935	OMIM	1		343	1366	604134
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS13 CL E G H	11093	274150	Upshaw-Schulman syndrome	274150	C1268935	OMIM	1		352	1366	604134
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1		599	17109	607511
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1		751	17109	607511
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS18 CL E G H	170692	615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	615458	C3809567	OMIM	1		471	17110	607512
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS18 CL E G H	170692	615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	615458	C3809567	OMIM	1		667	17110	607512
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1		920	218	604539
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1		1000	218	604539
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1		242	14631	612277
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1		244	14631	612277
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTSL4 CL E G H	54507	225200	Ectopia lentis et pupillae	225200	C1644196	OMIM	1		232	19706	610113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTSL4 CL E G H	54507	225200	Ectopia lentis et pupillae	225200	C1644196	OMIM	1		386	19706	610113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTSL4 CL E G H	54507	225100	Ectopia lentis, isolated autosomal recessive	225100	C2673634	OMIM	1		232	19706	610113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTSL4 CL E G H	54507	225100	Ectopia lentis, isolated autosomal recessive	225100	C2673634	OMIM	1		386	19706	610113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1		471	225	146920
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1		654	225	146920
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1		76	25151	615302
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1		85	25151	615302
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADCY1 CL E G H	107	610154	Deafness, autosomal recessive 44	610154	C1857809	OMIM	1		123	232	103072
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADCY1 CL E G H	107	610154	Deafness, autosomal recessive 44	610154	C1857809	OMIM	1		140	232	103072
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADCY6 CL E G H	112	616287	Lethal congenital contracture syndrome 8	616287	C4225385	OMIM	1		68	237	600294
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1		52	245	601568
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1		88	245	601568
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	1		494	4512	604110
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	1		536	4512	604110
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRG1 CL E G H	9289	615752	Polymicrogyria, bilateral perisylvian, autosomal recessive	615752	C3810405	OMIM	1		494	4512	604110
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRG1 CL E G H	9289	615752	Polymicrogyria, bilateral perisylvian, autosomal recessive	615752	C3810405	OMIM	1		536	4512	604110
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1		92	13841	612243
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1		93	13841	612243
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRV1 CL E G H	84059	605472	Usher syndrome, type 2C	605472	C2931213	OMIM	1		2459	17416	602851
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRV1 CL E G H	84059	605472	Usher syndrome, type 2C	605472	C2931213	OMIM	1		3168	17416	602851
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1		73	257	102750
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1		79	257	102750
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1		368	291	608222
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1		582	291	608222
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1			20093	612498
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1		349	315	604581
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1		357	315	604581
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AFP CL E G H	174	615969	Alpha-fetoprotein deficiency	615969	C1863081	OMIM	1		33	317	104150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AFP CL E G H	174	615969	Alpha-fetoprotein deficiency	615969	C1863081	OMIM	1		34	317	104150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1		330	318	613228
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1		355	318	613228
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGBL5 CL E G H	60509	617023	Retinitis pigmentosa 75	617023	C4310759	OMIM	1		265	26147	615900
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGBL5 CL E G H	60509	617023	Retinitis pigmentosa 75	617023	C4310759	OMIM	1		377	26147	615900
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1		220	21869	610345
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1		236	21869	610345
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGK CL E G H	55750	614691	Cataract, autosomal recessive congenital 5	614691	C3553494	OMIM	1		220	21869	610345
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGK CL E G H	55750	614691	Cataract, autosomal recessive congenital 5	614691	C3553494	OMIM	1		236	21869	610345
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1		1299	321	610860
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1		1529	321	610860
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1		203	325	603100
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1		205	325	603100
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGPS CL E G H	8540	600121	Rhizomelic chondrodysplasia punctata type 3	600121	C1838612	OMIM	1		376	327	603051
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGPS CL E G H	8540	600121	Rhizomelic chondrodysplasia punctata type 3	600121	C1838612	OMIM	1		400	327	603051
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1		1309	329	103320
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1		1579	329	103320
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1		143	333	106150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1		153	333	106150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1		88	336	106165
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1		103	336	106165
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGXT CL E G H	189	259900	Primary hyperoxaluria, type I	259900	C0268164	OMIM	1		563	341	604285
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGXT CL E G H	189	259900	Primary hyperoxaluria, type I	259900	C0268164	OMIM	1		599	341	604285
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AHCY CL E G H	191	613752	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	613752	C3151058	OMIM	1		113	343	180960
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AHCY CL E G H	191	613752	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	613752	C3151058	OMIM	1		126	343	180960
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1		650	21575	608894
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1		827	21575	608894
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AHSG CL E G H	197	203650	Alopecia mental retardation syndrome 1	203650	C1859878	OMIM	1		61	349	138680
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AICDA CL E G H	57379	605258	Immunodeficiency with hyper IgM type 2	605258	C1720956	OMIM	1		178	13203	605257
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AICDA CL E G H	57379	605258	Immunodeficiency with hyper IgM type 2	605258	C1720956	OMIM	1		199	13203	605257
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1		52	10648	603605
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1		66	10648	603605
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1		395	358	605555
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1		487	358	605555
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIPL1 CL E G H	23746	604393	Leber congenital amaurosis 4	604393	C1858386	OMIM	1		315	359	604392
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIPL1 CL E G H	23746	604393	Leber congenital amaurosis 4	604393	C1858386	OMIM	1		374	359	604392
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1		641	360	607358
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1		718	360	607358
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AK1 CL E G H	203	612631	Adenylate kinase deficiency, hemolytic anemia due to	612631	C2675459	OMIM	1		72	361	103000
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AK1 CL E G H	203	612631	Adenylate kinase deficiency, hemolytic anemia due to	612631	C2675459	OMIM	1		79	361	103000
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AK2 CL E G H	204	267500	Reticular dysgenesis	267500	C0272167	OMIM	1		133	362	103020
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AK2 CL E G H	204	267500	Reticular dysgenesis	267500	C0272167	OMIM	1		161	362	103020
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AKR1C2 CL E G H	1646	614279	46,XY sex reversal 8	614279	C1839840	OMIM	1		102	385	600450
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AKR1C2 CL E G H	1646	614279	46,XY sex reversal 8	614279	C1839840	OMIM	1		109	385	600450
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1		202	388	604741
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1		206	388	604741
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AKT2 CL E G H	208	240900	Hypoglycemia, neonatal, simulating foetopathia diabetica	240900	C1855860	OMIM	1		77	392	164731
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AKT2 CL E G H	208	240900	Hypoglycemia, neonatal, simulating foetopathia diabetica	240900	C1855860	OMIM	1		94	392	164731
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1		148	399	103600
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1		152	399	103600
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1		346	9722	138250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1		392	9722	138250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1		346	9722	138250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1		392	9722	138250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH1A3 CL E G H	220	615113	Microphthalmia, isolated 8	615113	C3554524	OMIM	1		177	409	600463
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH1A3 CL E G H	220	615113	Microphthalmia, isolated 8	615113	C3554524	OMIM	1		182	409	600463
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1		437	403	609523
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1		475	403	609523
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH4A1 CL E G H	8659	239510	Deficiency of pyrroline-5-carboxylate reductase	239510	C2931835	OMIM	1		197	406	606811
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH4A1 CL E G H	8659	239510	Deficiency of pyrroline-5-carboxylate reductase	239510	C2931835	OMIM	1		220	406	606811
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1		472	408	610045
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1		537	408	610045
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1		133	7179	603178
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1		146	7179	603178
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1		619	877	107323
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1		696	877	107323
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1		353	414	103850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1		381	414	103850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1		316	417	612724
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1		330	417	612724
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1		260	18294	605907
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1		391	18294	605907
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG11 CL E G H	440138	613661	Congenital disorder of glycosylation type 1P	613661	C3150913	OMIM	1		170	32456	613666
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG11 CL E G H	440138	613661	Congenital disorder of glycosylation type 1P	613661	C3150913	OMIM	1		179	32456	613666
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	1		76	28287	612866
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	1		97	28287	612866
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1		193	23159	607905
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1		241	23159	607905
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	1		193	23159	607905
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	1		241	23159	607905
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1		159	23056	608750
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1		166	23056	608750
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG6 CL E G H	29929	603147	Congenital disorder of glycosylation type 1C	603147	C2930997	OMIM	1		314	23157	604566
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG6 CL E G H	29929	603147	Congenital disorder of glycosylation type 1C	603147	C2930997	OMIM	1		404	23157	604566
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1		212	15672	606941
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1		222	15672	606941
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG9 CL E G H	79796	263210	Gillessen-Kaesbach-Nishimura syndrome	263210	C1849762	OMIM	1		212	15672	606941
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALG9 CL E G H	79796	263210	Gillessen-Kaesbach-Nishimura syndrome	263210	C1849762	OMIM	1		222	15672	606941
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1		2504	428	606844
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1		3342	428	606844
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1		285	430	603741
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1		291	430	603741
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1		202	13743	607206
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1		209	13743	607206
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALOXE3 CL E G H	59344	606545	Autosomal recessive congenital ichthyosis 3	606545	C1847849	OMIM	1		202	13743	607206
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALOXE3 CL E G H	59344	606545	Autosomal recessive congenital ichthyosis 3	606545	C1847849	OMIM	1		209	13743	607206
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	146300	Adult hypophosphatasia	146300	C0268413	OMIM	1		575	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	146300	Adult hypophosphatasia	146300	C0268413	OMIM	1		671	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1		575	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1		671	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1		575	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1		671	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1		524	443	606352
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1		644	443	606352
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1		524	443	606352
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1		644	443	606352
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1		524	443	606352
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1		644	443	606352
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX1 CL E G H	8092	613456	Frontonasal dysplasia 3	613456	C3150706	OMIM	1		31	1494	601527
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1		42	449	606014
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1		43	449	606014
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX4 CL E G H	60529	613451	Frontonasal dysplasia 2	613451	C3150703	OMIM	1		245	450	605420
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX4 CL E G H	60529	613451	Frontonasal dysplasia 2	613451	C3150703	OMIM	1		246	450	605420
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1		164	451	604489
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1		251	451	604489
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1		164	451	604489
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1		251	451	604489
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMBN CL E G H	258	616270	Amelogenesis imperfecta, type IF	616270	C4225394	OMIM	1		40	452	601259
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMBN CL E G H	258	616270	Amelogenesis imperfecta, type IF	616270	C4225394	OMIM	1		41	452	601259
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMH CL E G H	268	261550	Persistent Mullerian duct syndrome	261550	C1849930	OMIM	1		73	464	600957
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMH CL E G H	268	261550	Persistent Mullerian duct syndrome	261550	C1849930	OMIM	1		93	464	600957
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMHR2 CL E G H	269	261550	Persistent Mullerian duct syndrome	261550	C1849930	OMIM	1		53	465	600956
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMHR2 CL E G H	269	261550	Persistent Mullerian duct syndrome	261550	C1849930	OMIM	1		62	465	600956
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMN CL E G H	81693	261100	Megaloblastic anemia due to inborn errors of metabolism	261100	C1306856	OMIM	1		158	14604	605799
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMN CL E G H	81693	261100	Megaloblastic anemia due to inborn errors of metabolism	261100	C1306856	OMIM	1		184	14604	605799
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMPD1 CL E G H	270	615511	Muscle AMP deaminase deficiency	615511	C0268123	OMIM	1		136	468	102770
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMPD1 CL E G H	270	615511	Muscle AMP deaminase deficiency	615511	C0268123	OMIM	1		228	468	102770
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1		172	469	102771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1		230	469	102771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMPD2 CL E G H	271	615686	Spastic paraplegia 63, autosomal recessive	615686	C3810295	OMIM	1		172	469	102771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMPD2 CL E G H	271	615686	Spastic paraplegia 63, autosomal recessive	615686	C3810295	OMIM	1		230	469	102771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1		321	473	238310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1		382	473	238310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANGPTL3 CL E G H	27329	605019	Hypobetalipoproteinemia, familial, 2	605019	C1857970	OMIM	1		56	491	604774
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANGPTL3 CL E G H	27329	605019	Hypobetalipoproteinemia, familial, 2	605019	C1857970	OMIM	1		63	491	604774
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1		364	494	600465
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1		505	494	600465
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1		184	29101	616062
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1		189	29101	616062
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANKS6 CL E G H	203286	615382	Nephronophthisis 16	615382	C3809320	OMIM	1		221	26724	615370
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANKS6 CL E G H	203286	615382	Nephronophthisis 16	615382	C3809320	OMIM	1		239	26724	615370
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1		214	25519	613726
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1		222	25519	613726
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1		786	27337	608662
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1		900	27337	608662
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1		786	27337	608662
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1		900	27337	608662
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO6 CL E G H	196527	262890	SCOTT SYNDROME	262890	C0796149	OMIM	1		55	25240	608663
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1		83	21014	606410
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1		84	21014	606410
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1		247	21732	608041
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1		253	21732	608041
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1		53	559	603531
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1		55	559	603531
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1		356	566	603401
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1		467	566	603401
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1		117	567	602166
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1		288	567	602166
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1		226	568	607246
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1		394	568	607246
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1		189	572	607245
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1		254	572	607245
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1		238	573	607244
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1		332	573	607244
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1		199	574	602296
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1		264	574	602296
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1		89	575	607243
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1		110	575	607243
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1		713	22197	613653
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1		780	22197	613653
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APC2 CL E G H	10297	617169	Sotos syndrome 3	617169	C4310684	OMIM	1		179	24036	612034
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APC2 CL E G H	10297	617169	Sotos syndrome 3	617169	C4310684	OMIM	1		194	24036	612034
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APCDD1 CL E G H	147495	605389	Hypotrichosis simplex	605389	C1854310	OMIM	1		117	15718	607479
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APCDD1 CL E G H	147495	605389	Hypotrichosis simplex	605389	C1854310	OMIM	1		121	15718	607479
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOB CL E G H	338	615558	Hypobetalipoproteinemia, familial, 1	615558	CN182502	OMIM	1		2340	603	107730
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOB CL E G H	338	615558	Hypobetalipoproteinemia, familial, 1	615558	CN182502	OMIM	1		2465	603	107730
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1		57	609	608083
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1		59	609	608083
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOE CL E G H	348	269600	Sea-blue histiocyte syndrome	269600	C0036489	OMIM	1		78	613	107741
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOE CL E G H	348	269600	Sea-blue histiocyte syndrome	269600	C0036489	OMIM	1		80	613	107741
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		125	20492	616003
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		129	20492	616003
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APRT CL E G H	353	614723	Adenine phosphoribosyltransferase deficiency	614723	C0268120	OMIM	1		195	626	102600
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APRT CL E G H	353	614723	Adenine phosphoribosyltransferase deficiency	614723	C0268120	OMIM	1		210	626	102600
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1		236	15984	606350
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1		258	15984	606350
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1		239	634	107777
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1		247	634	107777
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1		426	15853	605371
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1		459	15853	605371
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1		234	663	608313
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1		295	663	608313
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARHGDIA CL E G H	396	615244	Nephrotic syndrome, type 8	615244	C3808953	OMIM	1		41	678	601925
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARHGEF18 CL E G H	23370	617433	Retinitis pigmentosa 78	617433	C4479481	OMIM	1		376	17090	616432
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARHGEF18 CL E G H	23370	617433	Retinitis pigmentosa 78	617433	C4479481	OMIM	1		519	17090	616432
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1		866	18040	614556
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1		958	18040	614556
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1		184	25419	608922
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1		222	25419	608922
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL2BP CL E G H	23568	615434	Retinitis pigmentosa with or without situs inversus	615434	C3809503	OMIM	1		51	17146	615407
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL2BP CL E G H	23568	615434	Retinitis pigmentosa with or without situs inversus	615434	C3809503	OMIM	1		74	17146	615407
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL6 CL E G H	84100	600151	Bardet-Biedl syndrome 3	600151	C1859564	OMIM	1		113	13210	608845
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL6 CL E G H	84100	600151	Bardet-Biedl syndrome 3	600151	C1859564	OMIM	1		143	13210	608845
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL6 CL E G H	84100	613575	Retinitis pigmentosa 55	613575	C3150808	OMIM	1		113	13210	608845
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL6 CL E G H	84100	613575	Retinitis pigmentosa 55	613575	C3150808	OMIM	1		143	13210	608845
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL6IP1 CL E G H	23204	615685	Spastic paraplegia 61, autosomal recessive	615685	C3810294	OMIM	1		58	697	607669
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL6IP1 CL E G H	23204	615685	Spastic paraplegia 61, autosomal recessive	615685	C3810294	OMIM	1		59	697	607669
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARMC4 CL E G H	55130	615451	Primary ciliary dyskinesia 23	615451	C3809548	OMIM	1			25583	615408
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1		62	16876	606036
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1		84	16876	606036
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1		732	713	607574
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1		841	713	607574
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1		583	714	611542
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1		625	714	611542
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1		62	29561	611647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1		65	29561	611647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1		420	735	613468
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1		593	735	613468
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1		420	735	613468
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1		593	735	613468
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1		63	24268	614215
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1		82	24268	614215
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1		423	746	608310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1		469	746	608310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1		245	753	108370
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1		332	753	108370
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1		245	756	608034
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1		281	756	608034
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASPH CL E G H	444	601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	601552	C1832167	OMIM	1		116	757	600582
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASPH CL E G H	444	601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	601552	C1832167	OMIM	1		122	757	600582
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1		920	19048	605481
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1		1103	19048	605481
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1		481	758	603470
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1		517	758	603470
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1		298	18318	612990
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1		388	18318	612990
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1		27	25903	614452
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1		76	25903	614452
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1		250	25567	612316
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1		264	25567	612316
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1		175	779	608179
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1		179	779	608179
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATF6 CL E G H	22926	616517	Achromatopsia 7	616517	C4225297	OMIM	1		178	791	605537
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATF6 CL E G H	22926	616517	Achromatopsia 7	616517	C4225297	OMIM	1		246	791	605537
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATG5 CL E G H	9474	617584	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	617584	C4539808	OMIM	1		33	589	604261
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1		67	794	601731
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1		72	794	601731
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1		10320	795	607585
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1		11382	795	607585
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATOH7 CL E G H	220202	221900	Persistent hyperplastic primary vitreous, autosomal recessive	221900	C1857299	OMIM	1		75	13907	609875
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATOH7 CL E G H	220202	221900	Persistent hyperplastic primary vitreous, autosomal recessive	221900	C1857299	OMIM	1		106	13907	609875
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1		487	30213	610513
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1		609	30213	610513
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1		487	30213	610513
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1		609	30213	610513
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP2A1 CL E G H	487	601003	Brody myopathy	601003	C1832918	OMIM	1		567	811	108730
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP2A1 CL E G H	487	601003	Brody myopathy	601003	C1832918	OMIM	1		657	811	108730
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1		147	823	164360
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1		149	823	164360
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP5F1A CL E G H	498	615228	Mitochondrial complex v (atp synthase) deficiency, nuclear type 4	615228	C3808899	OMIM	1		147	823	164360
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP5F1A CL E G H	498	615228	Mitochondrial complex v (atp synthase) deficiency, nuclear type 4	615228	C3808899	OMIM	1		149	823	164360
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP5F1E CL E G H	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	614053	C3279708	OMIM	1		36	838	606153
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP5F1E CL E G H	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	614053	C3279708	OMIM	1		37	838	606153
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	1		263	18305	300556
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	1		286	18305	300556
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1		417	18481	611716
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1		458	18481	611716
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1		417	18481	611716
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1		458	18481	611716
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1		298	866	605239
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1		320	866	605239
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V1A CL E G H	523	617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403	C4479409	OMIM	1		79	851	607027
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V1A CL E G H	523	617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403	C4479409	OMIM	1		93	851	607027
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1		318	853	192132
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V1B1 CL E G H	525	267300	Renal tubular acidosis with progressive nerve deafness	267300	C0403554	OMIM	1		355	853	192132
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1		160	857	108746
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1		168	857	108746
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1		1389	870	606882
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1		1579	870	606882
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1		126	13533	605870
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1		193	13533	605870
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP8B1 CL E G H	5205	243300	Cholestasis, benign recurrent intrahepatic 1	243300	C1855731	OMIM	1		494	3706	602397
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP8B1 CL E G H	5205	243300	Cholestasis, benign recurrent intrahepatic 1	243300	C1855731	OMIM	1		496	3706	602397
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1		494	3706	602397
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1		496	3706	602397
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1		209	18802	608918
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1		219	18802	608918
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1		755	882	601215
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1		1007	882	601215
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1		145	890	600529
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1		177	890	600529
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AURKC CL E G H	6795	243060	Infertility associated with multi-tailed spermatozoa and excessive DNA	243060	C0403812	OMIM	1		73	11391	603495
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AURKC CL E G H	6795	243060	Infertility associated with multi-tailed spermatozoa and excessive DNA	243060	C0403812	OMIM	1		74	11391	603495
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AXL CL E G H	558	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1		78	905	109135
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AXL CL E G H	558	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1		87	905	109135
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B2M CL E G H	567	241600	Hypoproteinemia, hypercatabolic	241600	C1855796	OMIM	1		32	914	109700
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B2M CL E G H	567	241600	Hypoproteinemia, hypercatabolic	241600	C1855796	OMIM	1		39	914	109700
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1		343	28596	610194
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1		411	28596	610194
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GALT6 CL E G H	126792	615349	Ehlers-Danlos syndrome, progeroid type, 2	615349	C3809210	OMIM	1		281	17978	615291
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GALT6 CL E G H	126792	615349	Ehlers-Danlos syndrome, progeroid type, 2	615349	C3809210	OMIM	1		337	17978	615291
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1		281	17978	615291
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1		337	17978	615291
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1		89	923	606374
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1		126	923	606374
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1		226	20207	610308
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1		248	20207	610308
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1		148	4117	601873
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1		169	4117	601873
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1		141	924	137060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1		146	924	137060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1		175	930	604327
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1		237	930	604327
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1		122	15685	605517
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1		151	15685	605517
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1		196	24123	614144
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1		230	24123	614144
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B9D1 CL E G H	27077	614209	Meckel syndrome, type 9	614209	C3280155	OMIM	1		196	24123	614144
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B9D1 CL E G H	27077	614209	Meckel syndrome, type 9	614209	C3280155	OMIM	1		230	24123	614144
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1		50	28636	611951
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1		58	28636	611951
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BAAT CL E G H	570	607748	Hypercholanemia, familial	607748	C1843139	OMIM	1		171	932	602938
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BAAT CL E G H	570	607748	Hypercholanemia, familial	607748	C1843139	OMIM	1		172	932	602938
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1		44	17397	603811
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1		45	17397	603811
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBIP1 CL E G H	92482	615995	Bardet-Biedl syndrome 18	615995	C3806174	OMIM	1		59	28093	613605
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBIP1 CL E G H	92482	615995	Bardet-Biedl syndrome 18	615995	C3806174	OMIM	1		71	28093	613605
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1		491	966	209901
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1		582	966	209901
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS10 CL E G H	79738	615987	Bardet-Biedl syndrome 10	615987	C1859568	OMIM	1		438	26291	610148
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS10 CL E G H	79738	615987	Bardet-Biedl syndrome 10	615987	C1859568	OMIM	1		528	26291	610148
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS12 CL E G H	166379	615989	Bardet-Biedl syndrome 12	615989	C1859570	OMIM	1		355	26648	610683
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS12 CL E G H	166379	615989	Bardet-Biedl syndrome 12	615989	C1859570	OMIM	1		439	26648	610683
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS2 CL E G H	583	615981	Bardet-Biedl syndrome 2	615981	C2936863	OMIM	1		482	967	606151
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS2 CL E G H	583	615981	Bardet-Biedl syndrome 2	615981	C2936863	OMIM	1		585	967	606151
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS2 CL E G H	583	616562	Retinitis pigmentosa 74	616562	C4225281	OMIM	1		482	967	606151
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS2 CL E G H	583	616562	Retinitis pigmentosa 74	616562	C4225281	OMIM	1		585	967	606151
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS4 CL E G H	585	615982	Bardet-Biedl syndrome 4	615982	C2936864	OMIM	1		299	969	600374
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS4 CL E G H	585	615982	Bardet-Biedl syndrome 4	615982	C2936864	OMIM	1		378	969	600374
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS5 CL E G H	129880	615983	Bardet-Biedl syndrome 5	615983	C3892039	OMIM	1		147	970	603650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS5 CL E G H	129880	615983	Bardet-Biedl syndrome 5	615983	C3892039	OMIM	1		199	970	603650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS7 CL E G H	55212	615984	Bardet-Biedl syndrome 7	615984	C1859565	OMIM	1		254	18758	607590
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS7 CL E G H	55212	615984	Bardet-Biedl syndrome 7	615984	C1859565	OMIM	1		326	18758	607590
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS9 CL E G H	27241	615986	Bardet-Biedl syndrome 9	615986	C1859567	OMIM	1		426	30000	607968
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS9 CL E G H	27241	615986	Bardet-Biedl syndrome 9	615986	C1859567	OMIM	1		512	30000	607968
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1		384	986	608348
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1		413	986	608348
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1		448	987	248611
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1		478	987	248611
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCL10 CL E G H	8915	616098	Immunodeficiency 37	616098	C4015195	OMIM	1		79	989	603517
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCL10 CL E G H	8915	616098	Immunodeficiency 37	616098	C4015195	OMIM	1		88	989	603517
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1		249	1020	603647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1		279	1020	603647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1		249	1020	603647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1		279	1020	603647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCS1L CL E G H	617	262000	Pili torti-deafness syndrome	262000	C0266006	OMIM	1		249	1020	603647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCS1L CL E G H	617	262000	Pili torti-deafness syndrome	262000	C0266006	OMIM	1		279	1020	603647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BEST1 CL E G H	7439	611809	Bestrophinopathy, autosomal recessive	611809	C3888198	OMIM	1		499	12703	607854
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BEST1 CL E G H	7439	611809	Bestrophinopathy, autosomal recessive	611809	C3888198	OMIM	1		595	12703	607854
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BFSP1 CL E G H	631	611391	Cataract 33, multiple types	611391	C3808107	OMIM	1		113	1040	603307
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BFSP1 CL E G H	631	611391	Cataract 33, multiple types	611391	C3808107	OMIM	1		118	1040	603307
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BHLHA9 CL E G H	727857	607539	Camptosynpolydactyly, complex	607539	C1843758	OMIM	1		131	35126	615416
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BHLHA9 CL E G H	727857	607539	Camptosynpolydactyly, complex	607539	C1843758	OMIM	1		141	35126	615416
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BHLHA9 CL E G H	727857	609432	Syndactyly type 9	609432	C1836206	OMIM	1		131	35126	615416
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BHLHA9 CL E G H	727857	609432	Syndactyly type 9	609432	C1836206	OMIM	1		141	35126	615416
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1		431	1052	601248
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1		487	1052	601248
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLM CL E G H	641	210900	Bloom syndrome	210900	C0005859	OMIM	1		2048	1058	604610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLM CL E G H	641	210900	Bloom syndrome	210900	C0005859	OMIM	1		2425	1058	604610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLNK CL E G H	29760	613502	Agammaglobulinemia 4, autosomal recessive	613502	C3150752	OMIM	1		170	14211	604515
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLNK CL E G H	29760	613502	Agammaglobulinemia 4, autosomal recessive	613502	C3150752	OMIM	1		204	14211	604515
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLOC1S3 CL E G H	388552	614077	Hermansky-Pudlak syndrome 8	614077	C3888026	OMIM	1		35	20914	609762
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLOC1S3 CL E G H	388552	614077	Hermansky-Pudlak syndrome 8	614077	C3888026	OMIM	1		68	20914	609762
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLOC1S6 CL E G H	26258	614171	Hermansky-Pudlak syndrome 9	614171	C3280026	OMIM	1		81	8549	604310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLOC1S6 CL E G H	26258	614171	Hermansky-Pudlak syndrome 9	614171	C3280026	OMIM	1		100	8549	604310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLVRA CL E G H	644	614156	Hyperbiliverdinemia	614156	C3279964	OMIM	1		29	1062	109750
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMP1 CL E G H	649	614856	Osteogenesis imperfecta, type xiii	614856	C3553887	OMIM	1		297	1067	112264
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMP1 CL E G H	649	614856	Osteogenesis imperfecta, type xiii	614856	C3553887	OMIM	1		363	1067	112264
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1		174	24154	608699
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1		206	24154	608699
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMPR1B CL E G H	658	609441	Acromesomelic dysplasia, Demirhan type	609441	C4225404	OMIM	1		251	1077	603248
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMPR1B CL E G H	658	609441	Acromesomelic dysplasia, Demirhan type	609441	C4225404	OMIM	1		273	1077	603248
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMS1 CL E G H	9790	107600	Aplasia cutis congenita	107600	C0282160	OMIM	1		56	23505	611448
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMS1 CL E G H	9790	107600	Aplasia cutis congenita	107600	C0282160	OMIM	1		57	23505	611448
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1		64	24415	613183
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1		70	24415	613183
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BPGM CL E G H	669	222800	Deficiency of bisphosphoglycerate mutase	222800	C1291620	OMIM	1		37	1093	613896
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BPGM CL E G H	669	222800	Deficiency of bisphosphoglycerate mutase	222800	C1291620	OMIM	1		40	1093	613896
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRAF CL E G H	673	211980	Lung cancer	211980	C0684249	OMIM	1		618	1097	164757
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRAF CL E G H	673	211980	Lung cancer	211980	C0684249	OMIM	1		680	1097	164757
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1		725	21701	614506
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1		847	21701	614506
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRCA2 CL E G H	675	605724	Fanconi anemia, complementation group D1	605724	C1838457	OMIM	1		13912	1101	600185
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRCA2 CL E G H	675	605724	Fanconi anemia, complementation group D1	605724	C1838457	OMIM	1		14742	1101	600185
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1		142	11551	604902
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1		158	11551	604902
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRIP1 CL E G H	83990	609054	Fanconi anemia, complementation group J	609054	C1836860	OMIM	1		3464	20473	605882
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRIP1 CL E G H	83990	609054	Fanconi anemia, complementation group J	609054	C1836860	OMIM	1		3778	20473	605882
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1		330	15832	606158
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1		373	15832	606158
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1		330	15832	606158
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1		373	15832	606158
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1		198	16512	606412
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1		209	16512	606412
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1		366	1122	609019
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1		409	1122	609019
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1		511	1149	602860
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1		617	1149	602860
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1		66	1152	604577
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C12orf4 CL E G H	57102	618221	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66	618221		OMIM	1		77	1184	616082
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C12orf4 CL E G H	57102	618221	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66	618221		OMIM	1		80	1184	616082
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1		199	29521	615140
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1		208	29521	615140
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1			26784	613541
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1			26784	613541
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C15orf41 CL E G H	84529	615631	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib	615631	C3810185	OMIM	1			26929	615626
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1		240	25443	614297
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1		248	25443	614297
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C19orf12 CL E G H	83636	615043	Spastic paraplegia 43, autosomal recessive	615043	C2680446	OMIM	1		240	25443	614297
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C19orf12 CL E G H	83636	615043	Spastic paraplegia 43, autosomal recessive	615043	C2680446	OMIM	1		248	25443	614297
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QA CL E G H	712	613652	C1q deficiency	613652	C3150902	OMIM	1		29	1241	120550
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QA CL E G H	712	613652	C1q deficiency	613652	C3150902	OMIM	1		69	1241	120550
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QB CL E G H	713	613652	C1q deficiency	613652	C3150902	OMIM	1		38	1242	120570
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QB CL E G H	713	613652	C1q deficiency	613652	C3150902	OMIM	1		58	1242	120570
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QC CL E G H	714	613652	C1q deficiency	613652	C3150902	OMIM	1		36	1245	120575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QC CL E G H	714	613652	C1q deficiency	613652	C3150902	OMIM	1		62	1245	120575
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C2 CL E G H	717	217000	Complement component 2 deficiency	217000	C3150275	OMIM	1		106	1248	613927
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C2 CL E G H	717	217000	Complement component 2 deficiency	217000	C3150275	OMIM	1		169	1248	613927
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1		238	24564	615944
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1		355	24564	615944
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C3 CL E G H	718	613779	Complement component 3 deficiency, autosomal recessive	613779	C3151071	OMIM	1		357	1318	120700
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C3 CL E G H	718	613779	Complement component 3 deficiency, autosomal recessive	613779	C3151071	OMIM	1		477	1318	120700
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C4A CL E G H	720	614380	Complement component 4a deficiency	614380	C1852692	OMIM	1		33	1323	120810
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C5 CL E G H	727	609536	Leiner disease	609536	C0343047	OMIM	1		112	1331	120900
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C5 CL E G H	727	609536	Leiner disease	609536	C0343047	OMIM	1		272	1331	120900
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C6 CL E G H	729	612446	Complement component 6 deficiency	612446	C2676232	OMIM	1		88	1339	217050
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C6 CL E G H	729	612446	Complement component 6 deficiency	612446	C2676232	OMIM	1		213	1339	217050
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C7 CL E G H	730	610102	Complement component 7 deficiency	610102	C1864694	OMIM	1		86	1346	217070
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C7 CL E G H	730	610102	Complement component 7 deficiency	610102	C1864694	OMIM	1		210	1346	217070
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C8A CL E G H	731	613790	Complement component 8 deficiency type 1	613790	C3151081	OMIM	1		72	1352	120950
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C8A CL E G H	731	613790	Complement component 8 deficiency type 1	613790	C3151081	OMIM	1		148	1352	120950
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C8B CL E G H	732	613789	Complement component 8 deficiency type 2	613789	C3151080	OMIM	1		63	1353	120960
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C8B CL E G H	732	613789	Complement component 8 deficiency type 2	613789	C3151080	OMIM	1		164	1353	120960
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1			27232	614477
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C8orf37 CL E G H	157657	614500	Cone-rod dystrophy 16	614500	C3281045	OMIM	1			27232	614477
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA12 CL E G H	771	143860	Hyperchlorhidrosis, isolated	143860	C1840437	OMIM	1		56	1371	603263
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1		104	1373	611492
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1		119	1373	611492
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA5A CL E G H	763	615751	Carbonic anhydrase VA deficiency, hyperammonemia due to	615751	C3810404	OMIM	1		114	1377	114761
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA5A CL E G H	763	615751	Carbonic anhydrase VA deficiency, hyperammonemia due to	615751	C3810404	OMIM	1		140	1377	114761
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1		77	1382	114815
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1		83	1382	114815
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CABP2 CL E G H	51475	614899	Deafness, autosomal recessive 93	614899	C3888355	OMIM	1		59	1385	607314
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CABP2 CL E G H	51475	614899	Deafness, autosomal recessive 93	614899	C3888355	OMIM	1		69	1385	607314
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CABP4 CL E G H	57010	610427	Congenital stationary night blindness, type 2B	610427	C1864877	OMIM	1		252	1386	608965
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CABP4 CL E G H	57010	610427	Congenital stationary night blindness, type 2B	610427	C1864877	OMIM	1		312	1386	608965
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CACNA1D CL E G H	776	614896	Sinoatrial node dysfunction and deafness	614896	C3554018	OMIM	1		477	1391	114206
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CACNA1D CL E G H	776	614896	Sinoatrial node dysfunction and deafness	614896	C3554018	OMIM	1		744	1391	114206
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1		593	20202	608171
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1		757	20202	608171
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1		218	1424	114010
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1		562	1424	114010
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAMK2A CL E G H	815	618095	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	618095	CN253430	OMIM	1		56	1460	114078
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAMK2A CL E G H	815	618095	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	618095	CN253430	OMIM	1		62	1460	114078
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1		185	19721	613165
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1		218	19721	613165
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAPN1 CL E G H	823	616907	Spastic paraplegia 76, autosomal recessive	616907	C4310800	OMIM	1		84	1476	114220
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAPN1 CL E G H	823	616907	Spastic paraplegia 76, autosomal recessive	616907	C4310800	OMIM	1		100	1476	114220
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1		1047	1480	114240
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1		1142	1480	114240
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARD11 CL E G H	84433	615206	Immunodeficiency 11	615206	C3554686	OMIM	1		450	16393	607210
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARD11 CL E G H	84433	615206	Immunodeficiency 11	615206	C3554686	OMIM	1		540	16393	607210
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARD9 CL E G H	64170	212050	Candidiasis, familial, 2	212050	C1859353	OMIM	1		305	16391	607212
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARD9 CL E G H	64170	212050	Candidiasis, familial, 2	212050	C1859353	OMIM	1		359	16391	607212
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1		531	25695	612800
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1		625	25695	612800
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASP14 CL E G H	23581	617320	Ichthyosis, congenital, autosomal recessive 12	617320	C4310621	OMIM	1		39	1502	605848
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASP14 CL E G H	23581	617320	Ichthyosis, congenital, autosomal recessive 12	617320	C4310621	OMIM	1		41	1502	605848
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASP8 CL E G H	841	607271	Caspase-8 deficiency	607271	C1846545	OMIM	1		194	1509	601763
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASP8 CL E G H	841	607271	Caspase-8 deficiency	607271	C1846545	OMIM	1		230	1509	601763
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASQ2 CL E G H	845	611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	611938	C2677794	OMIM	1		378	1513	114251
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASQ2 CL E G H	845	611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	611938	C2677794	OMIM	1		431	1513	114251
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1		1318	1514	601199
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1		1569	1514	601199
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAST CL E G H	831	616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	616295	C4225381	OMIM	1		111	1515	114090
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAST CL E G H	831	616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	616295	C4225381	OMIM	1		116	1515	114090
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAT CL E G H	847	614097	Acatalasemia	614097	C0268419	OMIM	1		58	1516	115500
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CATSPER1 CL E G H	117144	612997	CATSPER-Related Male Infertility	612997	C2751811	OMIM	1		94	17116	606389
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CATSPER1 CL E G H	117144	612997	CATSPER-Related Male Infertility	612997	C2751811	OMIM	1		95	17116	606389
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CATSPER2 CL E G H	117155	612997	CATSPER-Related Male Infertility	612997	C2751811	OMIM	1		106	18810	607249
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CATSPER2 CL E G H	117155	612997	CATSPER-Related Male Infertility	612997	C2751811	OMIM	1		110	18810	607249
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CATSPER2 CL E G H	117155	611102	Deafness-infertility syndrome	611102	C1970187	OMIM	1		106	18810	607249
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CATSPER2 CL E G H	117155	611102	Deafness-infertility syndrome	611102	C1970187	OMIM	1		110	18810	607249
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1		81	1527	601047
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1		85	1527	601047
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1		109	9688	603198
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1		110	9688	603198
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CBLIF CL E G H	2694	261000	Intrinsic factor deficiency	261000	C1394891	OMIM	1		82	4268	609342
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1		792	1550	613381
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1		856	1550	613381
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CBX2 CL E G H	84733	613080	46,XY sex reversal, type 5	613080	C2751317	OMIM	1		39	1552	602770
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CBX2 CL E G H	84733	613080	46,XY sex reversal, type 5	613080	C2751317	OMIM	1		48	1552	602770
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D1A CL E G H	54862	608443	Mental retardation, autosomal recessive 3	608443	C1838023	OMIM	1		169	30237	610055
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D1A CL E G H	54862	608443	Mental retardation, autosomal recessive 3	608443	C1838023	OMIM	1		175	30237	610055
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1		881	29253	612013
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1		1064	29253	612013
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	612285	Joubert syndrome 9	612285	C2676788	OMIM	1		881	29253	612013
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	612285	Joubert syndrome 9	612285	C2676788	OMIM	1		1064	29253	612013
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	612284	Meckel syndrome type 6	612284	C2676790	OMIM	1		881	29253	612013
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	612284	Meckel syndrome type 6	612284	C2676790	OMIM	1		1064	29253	612013
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1		349	29426	612753
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1		413	29426	612753
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC103 CL E G H	388389	614679	Ciliary dyskinesia, primary, 17	614679	C3542550	OMIM	1		102	32700	614677
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC103 CL E G H	388389	614679	Ciliary dyskinesia, primary, 17	614679	C3542550	OMIM	1		114	32700	614677
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC114 CL E G H	93233	615067	Ciliary dyskinesia, primary, 20	615067	C3540844	OMIM	1			26560	615038
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	1		56	28178	613734
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	1		64	28178	613734
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC141 CL E G H	285025	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1		144	26821	616031
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC141 CL E G H	285025	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1		167	26821	616031
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC151 CL E G H	115948	616037	Ciliary dyskinesia, primary, 30	616037	C4015016	OMIM	1			28303	615956
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1		60	28033	616735
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC39 CL E G H	339829	613807	Ciliary dyskinesia, primary, 14	613807	C3151136	OMIM	1		373	25244	613798
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC39 CL E G H	339829	613807	Ciliary dyskinesia, primary, 14	613807	C3151136	OMIM	1		410	25244	613798
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC40 CL E G H	55036	613808	Ciliary dyskinesia, primary, 15	613808	C3151137	OMIM	1		573	26090	613799
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC40 CL E G H	55036	613808	Ciliary dyskinesia, primary, 15	613808	C3151137	OMIM	1		643	26090	613799
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC65 CL E G H	85478	615504	Ciliary dyskinesia, primary, 27	615504	C3809701	OMIM	1		134	29937	611088
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC65 CL E G H	85478	615504	Ciliary dyskinesia, primary, 27	615504	C3809701	OMIM	1		156	29937	611088
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC8 CL E G H	83987	614205	Three M syndrome 3	614205	C3280146	OMIM	1		47	25367	614145
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC8 CL E G H	83987	614205	Three M syndrome 3	614205	C3280146	OMIM	1		95	25367	614145
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC88C CL E G H	440193	236600	Congenital hydrocephalus 1	236600	C3887608	OMIM	1		258	19967	611204
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC88C CL E G H	440193	236600	Congenital hydrocephalus 1	236600	C3887608	OMIM	1		265	19967	611204
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1		86	12771	603400
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1		87	12771	603400
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCNO CL E G H	10309	615872	Ciliary dyskinesia, primary, 29	615872	C4014534	OMIM	1		114	18576	607752
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCNO CL E G H	10309	615872	Ciliary dyskinesia, primary, 29	615872	C4014534	OMIM	1		125	18576	607752
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1		293	1618	610150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1		306	1618	610150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD151 CL E G H	977	609057	Nephropathy with pretibial epidermolysis bullosa and deafness	609057	C1836823	OMIM	1		78	1630	602243
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD151 CL E G H	977	609057	Nephropathy with pretibial epidermolysis bullosa and deafness	609057	C1836823	OMIM	1		92	1630	602243
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1		223	1633	107265
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1		272	1633	107265
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD19 CL E G H	930	613493	Common variable immunodeficiency 3	613493	C3150738	OMIM	1	</