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	79	71	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	21		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	31	206	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	31	206	21022	612035
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	14	48	17366	605113
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1	14	48	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	12	243	23	137150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	240	248	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	136	181	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	136	181	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	289	207	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	1280	981	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	601718	Retinitis pigmentosa 19	601718	C1866422	OMIM	1	1280	981	34	601691
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCA4 CL E G H	24	248200	Stargardt disease 1	248200	C1855465	OMIM	1	1280	981	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	5	18	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	331	356	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	331	356	42	603201
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	244	280	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	244	280	45	171060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC2 CL E G H	1244	237500	Dubin-Johnson syndrome	237500	C0022350	OMIM	1	67	316	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	380	714	57	603234
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	380	714	57	603234
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	661	418	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	661	418	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	661	418	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	7	19	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	8	97	68	603214
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCG5 CL E G H	64240	210250	Sitosterolemia	210250	C0342907	OMIM	1	47	154	13886	605459
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ABCG8 CL E G H	64241	210250	Sitosterolemia	210250	C0342907	OMIM	1	51	240	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	21	93	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	39	108	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	7	128	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	26	167	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	61	158	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	171	308	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	85	162	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	15	172	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	283	473	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	64	102	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	97	197	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	9	75	25070	609377
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	55	136	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	19	121	118	100850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACO2 CL E G H	50	616289	Optic atrophy 9	616289	C4225384	OMIM	1	19	121	118	100850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	26	152	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	5	21	120	601641
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1	3	17	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	7	19	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	28	61	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	22	184	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	217	198	129	102610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	217	198	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	65	174	132	102630
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	15	30	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	96	140	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	55	140	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	55	140	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	7	65	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	11	93	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	15	77	13201	608990
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTS13 CL E G H	11093	274150	Upshaw-Schulman syndrome	274150	C1268935	OMIM	1	198	182	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	8	317	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	17	65	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	12	397	218	604539
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	28	134	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	27	108	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	27	108	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	229	176	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	2	48	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	1	47	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	4	14	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	8	27	245	601568
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	1	36	148	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	36	148	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	6	20	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	249	901	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	15	43	257	102750
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	212	291	608222
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1	3		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	40	206	315	604581
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AFP CL E G H	174	615969	Alpha-fetoprotein deficiency	615969	C1863081	OMIM	1	9	19	317	104150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	38	183	318	613228
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGBL5 CL E G H	60509	617023	Retinitis pigmentosa 75	617023	C4310759	OMIM	1	9	17	26147	615900
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	145	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	27	145	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	248	592	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	43	145	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	9	163	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	18	602	329	103320
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	27	80	333	106150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	16	47	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	211	370	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	15	58	343	180960
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	272	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	6	43	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	50	112	13203	605257
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	5	27	10648	603605
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	112	134	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	79	148	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	141	290	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	12	51	361	103000
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AK2 CL E G H	204	267500	Reticular dysgenesis	267500	C0272167	OMIM	1	19	65	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	12	46	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	15	130	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	7	23	392	164731
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	94	120	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	33	192	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	33	192	9722	138250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH1A3 CL E G H	220	615113	Microphthalmia, isolated 8	615113	C3554524	OMIM	1	25	103	409	600463
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	111	247	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	5	103	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	75	208	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	6	58	7179	603178
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	129	375	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	8	296	414	103850
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	159	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	44	134	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	14	105	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	6	36	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	5	116	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	5	116	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	19	93	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	26	144	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	4	123	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	4	123	15672	606941
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	1383	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	64	112	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	22	95	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	22	95	13743	607206
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	146300	Adult hypophosphatasia	146300	C0268413	OMIM	1	295	233	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	295	233	438	171760
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	295	233	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	73	204	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	73	204	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	73	204	443	606352
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX1 CL E G H	8092	613456	Frontonasal dysplasia 3	613456	C3150706	OMIM	1	5	23	1494	601527
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	8	26	449	606014
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ALX4 CL E G H	60529	613451	Frontonasal dysplasia 2	613451	C3150703	OMIM	1	27	152	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	14	113	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	14	113	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	11	21	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	57	38	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	37	23	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	34	92	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	13	90	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	18	55	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	18	55	469	102771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	96	135	473	238310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANGPTL3 CL E G H	27329	605019	Hypobetalipoproteinemia, familial, 2	605019	C1857970	OMIM	1	53	34	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	15	213	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	2	38	29101	616062
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANKS6 CL E G H	203286	615382	Nephronophthisis 16	615382	C3809320	OMIM	1	12	101	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	19	107	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	122	510	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	122	510	27337	608662
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANO6 CL E G H	196527	262890	SCOTT SYNDROME	262890	C0796149	OMIM	1	6	26	25240	608663
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	14	20	21014	606410
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	48	76	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	2	23	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	35	132	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	12	47	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	4	26	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	21	110	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	18	131	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	15	96	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	8	53	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	16	307	22197	613653
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APC2 CL E G H	10297	617169	Sotos syndrome 3	617169	C4310684	OMIM	1	3	47	24036	612034
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APCDD1 CL E G H	147495	605389	Hypotrichosis simplex	605389	C1854310	OMIM	1	1	79	15718	607479
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOB CL E G H	338	615558	Hypobetalipoproteinemia, familial, 1	615558	CN182502	OMIM	1	333	1003	603	107730
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1	24	37	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	64	51	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		82	20492	616003
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	APRT CL E G H	353	614723	Adenine phosphoribosyltransferase deficiency	614723	C0268120	OMIM	1	48	106	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	46	144	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	66	102	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	15	236	15853	605371
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	74	97	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	3	33	678	601925
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARHGEF18 CL E G H	23370	617433	Retinitis pigmentosa 78	617433	C4479481	OMIM	1	7	18	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	188	471	18040	614556
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	10	105	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	5	27	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	21	50	13210	608845
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARL6 CL E G H	84100	613575	Retinitis pigmentosa 55	613575	C3150808	OMIM	1	21	50	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	4	25	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	19	139	25583	615408
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	6	22	16876	606036
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	254	412	713	607574
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	207	360	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	3	37	29561	611647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	71	196	735	613468
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	71	196	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	5	17	24268	614215
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	169	180	746	608310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	27	52	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	102	133	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	4	36	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	213	657	19048	605481
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	157	241	758	603470
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	194	18318	612990
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1	3	23	25903	614452
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	17	145	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	3	95	779	608179
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATF6 CL E G H	22926	616517	Achromatopsia 7	616517	C4225297	OMIM	1	16	30	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	5	23	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	8	30	794	601731
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	1324	6615	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	9	19	13907	609875
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	44	251	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	44	251	30213	610513
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP2A1 CL E G H	487	601003	Brody myopathy	601003	C1832918	OMIM	1	19	322	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	3	84	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	3	84	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	1	26	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	6	209	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	56	226	18481	611716
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	56	226	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	93	117	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	9	33	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	61	110	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	2	61	857	108746
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	938	702	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	11	67	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	140	294	3706	602397
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1	140	294	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	2	161	18802	608918
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	34	236	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	12	102	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	4	39	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	9	8	905	109135
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B2M CL E G H	567	241600	Hypoproteinemia, hypercatabolic	241600	C1855796	OMIM	1	4	21	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	16	157	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	40	197	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	40	197	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	13	25	923	606374
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	82	20207	610308
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	13	61	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	2	157	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	9	117	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	7	64	15685	605517
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	10	142	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	10	142	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	4	47	28636	611951
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BAAT CL E G H	570	607748	Hypercholanemia, familial	607748	C1843139	OMIM	1	7	125	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	1	30	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	1	29	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	105	187	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	109	207	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	61	151	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	96	180	967	606151
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BBS2 CL E G H	583	616562	Retinitis pigmentosa 74	616562	C4225281	OMIM	1	96	180	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	54	144	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	31	58	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	44	104	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	53	178	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	101	182	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	115	240	987	248611
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCL10 CL E G H	8915	616098	Immunodeficiency 37	616098	C4015195	OMIM	1	3	41	989	603517
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	140	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	37	140	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	37	140	1020	603647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BEST1 CL E G H	7439	611809	Bestrophinopathy, autosomal recessive	611809	C3888198	OMIM	1	319	249	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	7	44	1040	603307
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BHLHA9 CL E G H	727857	607539	Camptosynpolydactyly, complex	607539	C1843758	OMIM	1	44	104	35126	615416
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BHLHA9 CL E G H	727857	609432	Syndactyly type 9	609432	C1836206	OMIM	1	44	104	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	17	231	1052	601248
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLM CL E G H	641	210900	Bloom syndrome	210900	C0005859	OMIM	1	131	908	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	3	50	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	4	50	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	2	58	8549	604310
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BLVRA CL E G H	644	614156	Hyperbiliverdinemia	614156	C3279964	OMIM	1	3	22	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	21	163	1067	112264
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	19	105	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	24	137	1077	603248
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BMS1 CL E G H	9790	107600	Aplasia cutis congenita	107600	C0282160	OMIM	1	2	18	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	6	36	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	11	33	1093	613896
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRAF CL E G H	673	211980	Lung cancer	211980	C0684249	OMIM	1	68	409	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	18	299	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	3025	10826	1101	600185
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	17	77	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	202	2199	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	50	191	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	50	191	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	24	81	16512	606412
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	334	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	29	195	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	2	22	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	5	61	1184	616082
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	8	86	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	11	80	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	11	80	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	6	26	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	38	152	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	38	152	25443	614297
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QA CL E G H	712	613652	C1q deficiency	613652	C3150902	OMIM	1	8	14	1241	120550
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QB CL E G H	713	613652	C1q deficiency	613652	C3150902	OMIM	1	8	15	1242	120570
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C1QC CL E G H	714	613652	C1q deficiency	613652	C3150902	OMIM	1	10	14	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	10	65	1248	613927
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	10	51	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	130	110	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	9	20	1323	120810
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	C5 CL E G H	727	609536	Leiner disease	609536	C0343047	OMIM	1	21	47	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	13	31	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	32	35	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	8	25	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	9	22	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	17	72	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	17	72	27232	614477
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CA12 CL E G H	771	143860	Hyperchlorhidrosis, isolated	143860	C1840437	OMIM	1	4	15	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	31	59	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	7	74	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	4	36	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	6	30	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	13	115	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	11	140	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	9	225	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	12	48	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	16	28	1460	114078
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	28	116	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	18	15	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	451	632	1480	114240
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARD11 CL E G H	84433	615206	Immunodeficiency 11	615206	C3554686	OMIM	1	14	192	16393	607210
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CARD9 CL E G H	64170	212050	Candidiasis, familial, 2	212050	C1859353	OMIM	1	32	151	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	4	239	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	1	13	1502	605848
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASP8 CL E G H	841	607271	Caspase-8 deficiency	607271	C1846545	OMIM	1	12	80	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	35	259	1513	114251
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	410	635	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	6	29	1515	114090
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CAT CL E G H	847	614097	Acatalasemia	614097	C0268419	OMIM	1	20	35	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	3	54	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	7	88	18810	607249
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CATSPER2 CL E G H	117155	611102	Deafness-infertility syndrome	611102	C1970187	OMIM	1	7	88	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	13	45	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	15	59	9688	603198
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CBLIF CL E G H	2694	261000	Intrinsic factor deficiency	261000	C1394891	OMIM	1		42	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	214	509	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	2	24	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	7	110	30237	610055
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	451	29253	612013
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CC2D2A CL E G H	57545	612285	Joubert syndrome 9	612285	C2676788	OMIM	1	96	451	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	96	451	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	13	216	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	5	69	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	8	129	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	5	42	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	1	26	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	2	76	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	1	22	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	47	222	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	43	306	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	2	55	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	3	16	25367	614145
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCDC88C CL E G H	440193	236600	Congenital hydrocephalus 1	236600	C3887608	OMIM	1	11	100	19967	611204
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1		55	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	10	63	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	1	171	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	6	32	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	10	155	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	10	155	1633	107265
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD247 CL E G H	919	610163	Immunodeficiency due to defect in cd3-zeta	610163	C1857798	OMIM	1	6	43	1677	186780
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD27 CL E G H	939	615122	Lymphoproliferative syndrome 2	615122	C3554540	OMIM	1	8	67	11922	186711
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD320 CL E G H	51293	613646	Methylmalonic aciduria due to transcobalamin receptor defect	613646	C3150900	OMIM	1	3	35	16692	606475
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	43	104	1663	173510
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD3D CL E G H	915	615617	Immunodeficiency 19	615617	C3810147	OMIM	1	5	58	1673	186790
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD3E CL E G H	916	615615	Immunodeficiency 18	615615	C3810127	OMIM	1	7	59	1674	186830
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD3G CL E G H	917	615607	Immunodeficiency 17	615607	C3810107	OMIM	1	4	62	1675	186740
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD40 CL E G H	958	606843	Immunodeficiency with hyper IgM type 3	606843	C1720957	OMIM	1	14	44	11919	109535
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	25	26	2665	125240
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD59 CL E G H	966	612300	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	612300	C2676767	OMIM	1	8	28	1689	107271
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD79A CL E G H	973	613501	Agammaglobulinemia 3, autosomal recessive	613501	C3150751	OMIM	1	8	30	1698	112205
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD79B CL E G H	974	612692	Agammaglobulinemia 6, autosomal recessive	612692	C3150207	OMIM	1	3	33	1699	147245
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD81 CL E G H	975	613496	Common variable immunodeficiency 6	613496	C3150741	OMIM	1	2	32	1701	186845
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD8A CL E G H	925	608957	Cd8 deficiency, familial	608957	C1837065	OMIM	1	1	37	1706	186910
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	3	98	16892	606037
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDAN1 CL E G H	146059	224120	Congenital dyserythropoietic anemia, type I	224120	C0271933	OMIM	1	69	105	1713	607465
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDC14A CL E G H	8556	608653	Deafness, autosomal recessive 32	608653	C1837608	OMIM	1	9	45	1718	603504
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	19	354	1739	603465
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDC6 CL E G H	990	613805	Meier-Gorlin syndrome 5	613805	C3151126	OMIM	1	4	41	1744	602627
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDCA7 CL E G H	83879	616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	616910	C4310799	OMIM	1	6	23	14628	609937
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	10	30	1750	600023
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDH23 CL E G H	64072	601386	Deafness, autosomal recessive 12	601386	C1832394	OMIM	1	361	909	13733	605516
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDH23 CL E G H	64072	601067	Usher syndrome, type 1D	601067	C1832845	OMIM	1	361	909	13733	605516
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDH3 CL E G H	1001	225280	EEM syndrome	225280	C1857041	OMIM	1	31	131	1762	114021
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDH3 CL E G H	1001	601553	Juvenile macular degeneration and hypotrichosis	601553	C1832162	OMIM	1	31	131	1762	114021
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDHR1 CL E G H	92211	613660	Cone-rod dystrophy 15	613660	C3150912	OMIM	1	49	191	14550	609502
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	7	63	1770	603464
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	5	63	1774	123831
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDK5RAP2 CL E G H	55755	604804	Primary autosomal recessive microcephaly 3	604804	C1858108	OMIM	1	23	247	18672	608201
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDK6 CL E G H	1021	616080	Primary autosomal recessive microcephaly 12	616080	C4015156	OMIM	1	1	21	1777	603368
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDSN CL E G H	1041	270300	Peeling skin syndrome	270300	C1849193	OMIM	1	16	18	1802	602593
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CDT1 CL E G H	81620	613804	Meier-Gorlin syndrome 4	613804	C3151120	OMIM	1	12	124	24576	605525
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEBPE CL E G H	1053	245480	Specific granule deficiency	245480	C0398593	OMIM	1	7	40	1836	600749
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	4	36	1856	117143
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	8	64	1857	600236
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CENPJ CL E G H	55835	608393	Primary autosomal recessive microcephaly 6	608393	C1842109	OMIM	1	10	233	17272	609279
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	10	233	17272	609279
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP104 CL E G H	9731	616781	Joubert syndrome 25	616781	C4084842	OMIM	1	7	113	24866	616690
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP120 CL E G H	153241	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	616300	C4225378	OMIM	1	9	62	26690	613446
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP135 CL E G H	9662	614673	Primary autosomal recessive microcephaly 8	614673	C3553414	OMIM	1	4	58	29086	611423
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP152 CL E G H	22995	614852	Primary autosomal recessive microcephaly 9	614852	C3553886	OMIM	1	20	196	29298	613529
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	20	196	29298	613529
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP164 CL E G H	22897	614845	Nephronophthisis 15	614845	C3541853	OMIM	1	9	86	29182	614848
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP19 CL E G H	84984	615703	Morbid obesity and spermatogenic failure	615703	C3810324	OMIM	1	2	92	28209	615586
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP290 CL E G H	80184	615991	Bardet-Biedl syndrome 14	615991	C2673874	OMIM	1	310	543	29021	610142
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	310	543	29021	610142
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP290 CL E G H	80184	611755	Leber congenital amaurosis 10	611755	C1857821	OMIM	1	310	543	29021	610142
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP290 CL E G H	80184	611134	Meckel syndrome type 4	611134	C1970161	OMIM	1	310	543	29021	610142
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP290 CL E G H	80184	610189	Senior-Loken syndrome 6	610189	C1857779	OMIM	1	310	543	29021	610142
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	11	132	12370	610523
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP55 CL E G H	55165	236500	Hydranencephaly with renal aplasia-dysplasia	236500	C1856053	OMIM	1	2	23	1161	610000
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	1	5	75	30794	607951
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	2	59	25815	614724
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP78 CL E G H	84131	617236	Cone-rod dystrophy and hearing loss	617236	C4310657	OMIM	1	10	71	25740	617110
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CEP83 CL E G H	51134	615862	Nephronophthisis 18	615862	C3890591	OMIM	1	10	36	17966	615847
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CERKL CL E G H	375298	608380	Retinitis pigmentosa 26	608380	C1842127	OMIM	1	39	117	21699	608381
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CERS1 CL E G H	10715	616230	Epilepsy, progressive myoclonic 8	616230	C4015619	OMIM	1	1	98	14253	606919
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CERS3 CL E G H	204219	615023	Autosomal recessive congenital ichthyosis 9	615023	C3554349	OMIM	1	9	94	23752	615276
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFAP298 CL E G H	56683	615500	Ciliary dyskinesia, primary, 26	615500	C3809684	OMIM	1	4	82	1301	615494
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFAP410 CL E G H	755	602271	Spondylometaphyseal dysplasia axial	602271	C1865695	OMIM	1		104	1260	603191
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFAP53 CL E G H	220136	614779	Heterotaxy, visceral, 6, autosomal	614779	C3553676	OMIM	1	4	63	26530	614759
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFD CL E G H	1675	613912	Complement factor d deficiency	613912	C0398764	OMIM	1	3	46	2771	134350
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFH CL E G H	3075	609814	Factor H deficiency	609814	C0398777	OMIM	1	346	154	4883	134370
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFI CL E G H	3426	610984	Afibrinogenemia	610984	C0001733	OMIM	1	158	78	5394	217030
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	9	76	1875	601443
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFTR CL E G H	1080	277180	Congenital bilateral absence of the vas deferens	277180	C0403814	OMIM	1	1828	1823	1884	602421
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CFTR CL E G H	1080	219700	Cystic fibrosis	219700	C0010674	OMIM	1	1828	1823	1884	602421
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	77	246	1912	118490
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHEK2 CL E G H	11200	259500	Osteosarcoma	259500	C0029463	OMIM	1	213	1717	16627	604373
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	27	213	1938	612395
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	3	97	8740	164010
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRM3 CL E G H	1131	100100	Prune belly syndrome	100100	C0033770	OMIM	1	8	67	1952	118494
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	36	172	1955	100690
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	36	172	1955	100690
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	36	172	1955	100690
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	11	129	1961	100710
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	26	173	1965	100720
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	26	173	1965	100720
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	26	173	1965	100720
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	138	263	1966	100725
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	138	263	1966	100725
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	138	263	1966	100725
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	35	109	1967	100730
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	35	109	1967	100730
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	22	64	24464	608429
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	39	191	1971	603799
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHST3 CL E G H	9469	143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	143095	C1840471	OMIM	1	39	191	1971	603799
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHST6 CL E G H	4166	217800	Macular corneal dystrophy Type I	217800	C1636149	OMIM	1	178	177	6938	605294
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHST8 CL E G H	64377	616265	Peeling skin syndrome 3	616265	C4015729	OMIM	1	3	18	15993	610190
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHSY1 CL E G H	22856	605282	Temtamy preaxial brachydactyly syndrome	605282	C1854466	OMIM	1	16	121	17198	608183
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CHUK CL E G H	1147	613630	Cocoon syndrome	613630	C3150891	OMIM	1	5	18	1974	600664
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CIB2 CL E G H	10518	609439	Deafness, autosomal recessive 48	609439	C1836199	OMIM	1	18	44	24579	605564
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CIB2 CL E G H	10518	614869	Usher syndrome, type 1J	614869	C3553944	OMIM	1	18	44	24579	605564
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	1	53	24229	612120
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CIITA CL E G H	4261	209920	Bare lymphocyte syndrome 2	209920	C2931418	OMIM	1	20	235	7067	600005
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CISD2 CL E G H	493856	604928	Wolfram syndrome 2	604928	C1858028	OMIM	1	4	18	24212	611507
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	15	36	1985	605629
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	7	22	26877	616174
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLCF1 CL E G H	23529	610313	Cold-induced sweating syndrome 2	610313	C1853198	OMIM	1	4	17	17412	607672
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	1	317	389	2019	118425
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	44	95	2020	600570
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLCN7 CL E G H	1186	611490	Osteopetrosis autosomal recessive 4	611490	C1969106	OMIM	1	100	159	2025	602727
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLCNKB CL E G H	1188	607364	Bartter syndrome type 3	607364	C1846343	OMIM	1	152	125	2027	602023
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLDN1 CL E G H	9076	607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	607626	C1843355	OMIM	1	4	70	2032	603718
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLDN14 CL E G H	23562	614035	Deafness, autosomal recessive 29	614035	C3279660	OMIM	1	13	122	2035	605608
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	65	105	2037	603959
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLDN19 CL E G H	149461	248190	Hypomagnesemia 5, renal, with ocular involvement	248190	C1855466	OMIM	1	21	60	2040	610036
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLEC7A CL E G H	64581	613108	Familial chronic mucocutaneous candidiasis	613108	C0341024	OMIM	1	1	38	14558	606264
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLIC5 CL E G H	53405	616042	Deafness, autosomal recessive 103	616042	C4015050	OMIM	1	2	41	13517	607293
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLMP CL E G H	79827	615237	Intestinal pseudo-obstruction	615237	C0021847	OMIM	1	13	57	24039	611693
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLN3 CL E G H	1201	204200	Juvenile neuronal ceroid lipofuscinosis	204200	C0751383	OMIM	1	73	380	2074	607042
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	52	278	2076	608102
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	85	254	2077	606725
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLN6 CL E G H	54982	601780	Ceroid lipofuscinosis neuronal 6	601780	C1866282	OMIM	1	85	254	2077	606725
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	44	290	2079	607837
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	44	290	2079	607837
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	2	22	16999	608757
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	25	135	30664	616254
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLPP CL E G H	8192	614129	Perrault syndrome 3	614129	C2681413	OMIM	1	13	38	2084	601119
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLRN1 CL E G H	7401	614180	Retinitis pigmentosa 61	614180	C3280041	OMIM	1	39	114	12605	606397
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CLRN1 CL E G H	7401	276902	Usher syndrome, type 3A	276902	C1568248	OMIM	1	39	114	12605	606397
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNGA1 CL E G H	1259	613756	Retinitis pigmentosa 49	613756	C3151059	OMIM	1	33	76	2148	123825
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNGA3 CL E G H	1261	216900	Achromatopsia 2	216900	C1857618	OMIM	1	152	124	2150	600053
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNGB1 CL E G H	1258	613767	Retinitis pigmentosa 45	613767	C3151066	OMIM	1	62	217	2151	600724
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNGB3 CL E G H	54714	262300	Achromatopsia 3	262300	C1849792	OMIM	1	126	256	2153	605080
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNGB3 CL E G H	54714	248200	Stargardt disease 1	248200	C1855465	OMIM	1	126	256	2153	605080
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	7	78	103	607803
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNNM4 CL E G H	26504	217080	Cone-rod dystrophy amelogenesis imperfecta	217080	C1857588	OMIM	1	24	110	105	607805
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	2	168	2171	600016
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNTN2 CL E G H	6900	615400	Epilepsy, familial adult myoclonic, 5	615400	C3809374	OMIM	1	6	118	2172	190197
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	21	27	8011	602346
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COA5 CL E G H	493753	616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	616500	C4225154	OMIM	1	1	26	33848	613920
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COA6 CL E G H	388753	616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	616501	C4225304	OMIM	1	3	53	18025	614772
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	7	14	25716	615623
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COASY CL E G H	80347	615643	Neurodegeneration with brain iron accumulation 6	615643	C3810230	OMIM	1	3	57	29932	609855
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COCH CL E G H	1690	618094	DEAFNESS, AUTOSOMAL RECESSIVE 110	618094	CN253427	OMIM	1	29	94	2180	603196
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	3	83	6545	606973
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	2	42	6546	606974
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	6	135	18620	606976
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	13	131	14857	606821
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	10	131	18621	606977
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COG6 CL E G H	57511	615328	Shaheen syndrome	615328	C3809160	OMIM	1	10	131	18621	606977
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	7	85	18623	606979
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL11A1 CL E G H	1301	228520	Fibrochondrogenesis	228520	C0265282	OMIM	1	106	462	2186	120280
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL11A2 CL E G H	1302	609706	Deafness, autosomal recessive 53	609706	C1864746	OMIM	1	59	414	2187	120290
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL11A2 CL E G H	1302	614524	Fibrochondrogenesis 2	614524	C3281128	OMIM	1	59	414	2187	120290
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL11A2 CL E G H	1302	215150	Otospondylomegaepiphyseal dysplasia	215150	C0432210	OMIM	1	59	414	2187	120290
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	3	23	2190	120350
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL17A1 CL E G H	1308	226650	Adult junctional epidermolysis bullosa	226650	C0268374	OMIM	1	114	164	2194	113811
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	36	342	2195	120328
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	967	826	2197	120150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL1A2 CL E G H	1278	225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	225320	C1857034	OMIM	1	523	554	2198	120160
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	523	554	2198	120160
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	4	18	18603	610004
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL27A1 CL E G H	85301	615155	Steel syndrome	615155	C3554594	OMIM	1	8	51	22986	608461
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL4A3 CL E G H	1285	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	272	386	2204	120070
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL4A4 CL E G H	1286	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	233	452	2206	120131
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	137	833	2211	120220
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	137	833	2211	120220
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	191	940	2212	120240
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	191	940	2212	120240
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	191	940	2212	120240
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	143	1306	2213	120250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A3 CL E G H	1293	616411	Dystonia 27	616411	C4225336	OMIM	1	143	1306	2213	120250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	143	1306	2213	120250
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL7A1 CL E G H	1294	604129	Epidermolysis bullosa pruriginosa	604129	C1275114	OMIM	1	828	333	2214	120120
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL7A1 CL E G H	1294	131850	Pretibial epidermolysis bullosa	131850	C0432321	OMIM	1	828	333	2214	120120
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	828	333	2214	120120
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL7A1 CL E G H	1294	131705	Transient bullous dermolysis of the newborn	131705	C1851573	OMIM	1	828	333	2214	120120
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL9A1 CL E G H	1297	614134	Stickler syndrome, type 4	614134	C3279941	OMIM	1	6	228	2217	120210
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COL9A2 CL E G H	1298	614284	Stickler syndrome, type 5	614284	C3280342	OMIM	1	13	175	2218	120260
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	46	2220	607620
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	13	43	17213	612502
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	70	195	2226	603033
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COPB2 CL E G H	9276	617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	617800	C4540488	OMIM	1	4	30	2232	606990
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	33	101	25223	609825
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	16	118	19693	612898
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COQ6 CL E G H	51004	614650	Coenzyme Q10 deficiency, primary, 6	614650	C3553349	OMIM	1	16	73	20233	614647
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	5	36	2244	601683
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	43	239	16812	606980
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COQ8B CL E G H	79934	615573	Nephrotic syndrome, type 9	615573	C3809965	OMIM	1	28	70	19041	615567
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	5	81	25302	612837
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CORO1A CL E G H	11151	615401	Immunodeficiency 8	615401	C3809383	OMIM	1	7	167	2252	605000
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	13	175	2260	602125
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	175	2260	602125
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	14	28216	614478
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX15 CL E G H	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119	C3554534	OMIM	1	5	136	2263	603646
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	136	2263	603646
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	119	26970	614698
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX4I2 CL E G H	84701	612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	612714	C2675184	OMIM	1	1	37	16232	607976
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX6A1 CL E G H	1337	616039	Charcot-Marie-Tooth disease, recessive intermediate d	616039	C4015029	OMIM	1	1	24	2277	602072
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	29	2280	124089
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	10	2294	123870
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPA6 CL E G H	57094	614417	Epilepsy, familial temporal lobe, 5	614417	C3280730	OMIM	1	17	112	17245	609562
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPA6 CL E G H	57094	614418	Febrile seizures, familial, 11	614418	C3280734	OMIM	1	17	112	17245	609562
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPAMD8 CL E G H	27151	617319	Anterior segment dysgenesis 8	617319	C4310622	OMIM	1	6	20	23228	608841
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	118	435	25801	614571
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	118	435	25801	614571
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPN1 CL E G H	1369	212070	Anaphylotoxin inactivator deficiency	212070	C0398782	OMIM	1	2	17	2312	603103
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	276	300	2323	608307
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	53	170	2328	600528
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	113	250	2330	600650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	113	250	2330	600650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CPT2 CL E G H	1376	255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	255110	C1833508	OMIM	1	113	250	2330	600650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CR2 CL E G H	1380	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	19	110	2336	120650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CR2 CL E G H	1380	614699	Common variable immunodeficiency 7	614699	C3542922	OMIM	1	19	110	2336	120650
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRADD CL E G H	8738	614499	Mental retardation, autosomal recessive 34	614499	C3281044	OMIM	1	7	20	2340	603454
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRB1 CL E G H	23418	613835	Leber congenital amaurosis 8	613835	C3151202	OMIM	1	347	227	2343	604210
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRB1 CL E G H	23418	600105	Retinitis pigmentosa 12	600105	C1838647	OMIM	1	347	227	2343	604210
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRB2 CL E G H	286204	616220	Focal segmental glomerulosclerosis 9	616220	C4015555	OMIM	1	25	55	18688	609720
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRB2 CL E G H	286204	219730	Ventriculomegaly with cystic kidney disease	219730	C1857423	OMIM	1	25	55	18688	609720
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRBN CL E G H	51185	607417	Mental retardation, autosomal recessive 2	607417	C1843942	OMIM	1	6	98	30185	609262
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CREB3L1 CL E G H	90993	616229	Osteogenesis imperfecta, type xvi	616229	C4015610	OMIM	1	3	20	18856	616215
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRIPT CL E G H	9419	615789	Short stature with microcephaly and distinctive facies	615789	C4014339	OMIM	1	4	21	14312	604594
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRLF1 CL E G H	9244	272430	Cold-induced sweating syndrome 1	272430	C1848947	OMIM	1	37	37	2364	604237
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRTAP CL E G H	10491	610682	Osteogenesis imperfecta type 7	610682	C1853162	OMIM	1	30	196	2379	605497
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRX CL E G H	1406	613829	Leber congenital amaurosis 7	613829	C3151192	OMIM	1	107	191	2383	602225
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRYAA CL E G H	1409	604219	Cataract, autosomal dominant	604219	C1858679	OMIM	1	27	111	2388	123580
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRYAB CL E G H	1410	613763	Cataract 16, multiple types	613763	C3151065	OMIM	1	30	95	2389	123590
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	30	95	2389	123590
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRYBB1 CL E G H	1414	611544	Cataract, congenital nuclear, autosomal recessive 3	611544	C1969062	OMIM	1	20	47	2397	600929
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CRYBB3 CL E G H	1417	609741	Cataract, congenital nuclear, autosomal recessive 2	609741	C1857853	OMIM	1	7	53	2400	123630
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CSF2RB CL E G H	1439	614370	Surfactant metabolism dysfunction, pulmonary, 5	614370	C3280574	OMIM	1	6	45	2436	138981
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CSF3R CL E G H	1441	617014	Neutropenia, severe congenital, 7, autosomal recessive	617014	C4310764	OMIM	1	16	88	2439	138971
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	27	146	26193	611654
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CSTA CL E G H	1475	607936	Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like	607936	C1842797	OMIM	1	8	22	2481	184600
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CSTB CL E G H	1476	254800	Unverricht-Lundborg syndrome	254800	C0751785	OMIM	1	15	158	2482	601145
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	34	301	26169	613129
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	1	177	2498	604927
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTH CL E G H	1491	219500	Cystathioninuria	219500	C0220993	OMIM	1	10	67	2501	607657
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTNNB1 CL E G H	1499	155255	Medulloblastoma	155255	C0025149	OMIM	1	54	133	2514	116806
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTNS CL E G H	1497	219750	Cystinosis, ocular nonnephropathic	219750	C2931013	OMIM	1	160	323	2518	606272
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	160	323	2518	606272
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	160	323	2518	606272
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTPS1 CL E G H	1503	615897	Immunodeficiency 24	615897	C4014617	OMIM	1	2	42	2519	123860
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTSA CL E G H	5476	256540	Combined deficiency of sialidase AND beta galactosidase	256540	C0268233	OMIM	1	39	82	9251	613111
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTSC CL E G H	1075	245010	Haim-Munk syndrome	245010	C1855627	OMIM	1	96	98	2528	602365
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTSC CL E G H	1075	245000	Papillon-Lefèvre syndrome	245000	C0030360	OMIM	1	96	98	2528	602365
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTSC CL E G H	1075	170650	Periodontitis, aggressive, 1	170650	C0031106	OMIM	1	96	98	2528	602365
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	19	270	2529	116840
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	11	57	2531	603539
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CTSK CL E G H	1513	265800	Pyknodysostosis	265800	C0238402	OMIM	1	58	69	2536	601105
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CUBN CL E G H	8029	261100	Megaloblastic anemia due to inborn errors of metabolism	261100	C1306856	OMIM	1	58	396	2548	602997
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CUL7 CL E G H	9820	273750	Three M syndrome 1	273750	C1848862	OMIM	1	85	179	21024	609577
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	7	16	10664	617170
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	5	29	25613	616120
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYB5A CL E G H	1528	250790	Methemoglobinemia type 4	250790	C2673427	OMIM	1	7	128	2570	613218
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	75	54	2873	613213
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYBA CL E G H	1535	233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	233690	C1856255	OMIM	1	76	129	2577	608508
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYC1 CL E G H	1537	615453	Mitochondrial complex III deficiency, nuclear type 6	615453	C3809553	OMIM	1	2	68	2579	123980
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP11B1 CL E G H	1584	202010	Deficiency of steroid 11-beta-monooxygenase	202010	C0268292	OMIM	1	161	224	2591	610613
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	55	124	2592	124080
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	55	124	2592	124080
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP17A1 CL E G H	1586	202110	Deficiency of steroid 17-alpha-monooxygenase	202110	C0268285	OMIM	1	130	77	2593	609300
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP19A1 CL E G H	1588	613546	Aromatase deficiency	613546	C1960539	OMIM	1	73	89	2594	107910
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP1B1 CL E G H	1545	617315	Anterior segment dysgenesis 6	617315	C4310623	OMIM	1	243	139	2597	601771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP1B1 CL E G H	1545	231300	Glaucoma 3, primary congenital, A	231300	C1856439	OMIM	1	243	139	2597	601771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP1B1 CL E G H	1545	600975	Glaucoma 3, primary infantile, b	600975	C1832977	OMIM	1	243	139	2597	601771
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP21A2 CL E G H	1589	201910	21-hydroxylase deficiency	201910	C0852654	OMIM	1	303	123	2600	613815
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	44	89	2602	126065
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP26B1 CL E G H	56603	614416	Radiohumeral fusions with other skeletal and craniofacial anomalies	614416	C3280729	OMIM	1	13	15	20581	605207
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP26C1 CL E G H	340665	614974	Focal facial dermal dysplasia 4	614974	C3554246	OMIM	1	11	20	20577	608428
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	116	246	2605	606530
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	82	52	2606	609506
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP2C19 CL E G H	1557	609535	CYP2C19-related poor drug metabolism	609535	C1836023	OMIM	1	49	78	2621	124020
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	6	24	20580	608713
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP2U1 CL E G H	113612	615030	Spastic paraplegia 56, autosomal recessive	615030	C3539507	OMIM	1	19	59	20582	610670
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP4F22 CL E G H	126410	604777	Autosomal recessive congenital ichthyosis 5	604777	C1858142	OMIM	1	45	112	26820	611495
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP4V2 CL E G H	285440	210370	Bietti crystalline corneoretinal dystrophy	210370	C1859486	OMIM	1	105	250	23198	608614
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	63	161	2652	603711
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	CYP7B1 CL E G H	9420	270800	Spastic paraplegia 5A	270800	C1849115	OMIM	1	63	161	2652	603711
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	33	212	28358	609186
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	11	234	2666	128239
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	11	234	2666	128239
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1	18		2678	603084
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	65	134	25538	610956
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	26	130	2689	609312
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	78	218	2698	248610
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCAF17 CL E G H	80067	241080	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities	241080	C0342286	OMIM	1	18	112	25784	612515
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCDC2 CL E G H	51473	610212	Deafness, autosomal recessive 66	610212	C1857750	OMIM	1	11	92	18141	605755
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCDC2 CL E G H	51473	616217	Nephronophthisis 19	616217	C4015542	OMIM	1	11	92	18141	605755
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	11	92	18141	605755
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	65	13681	603057
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCLRE1C CL E G H	64421	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	91	192	17642	605988
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCLRE1C CL E G H	64421	602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	602450	C1865370	OMIM	1	91	192	17642	605988
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	2	74	29812	610534
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDB2 CL E G H	1643	278740	Xeroderma pigmentosum, group E	278740	C1848411	OMIM	1	17	43	2718	600811
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	59	68	2719	107930
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	1	13	84	19714	614603
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	19	121	29106	615003
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDOST CL E G H	1650	614507	Congenital disorder of glycosylation type Ir	614507	C3281084	OMIM	1	2	116	2728	602202
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	10	69	2731	191311
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDRGK1 CL E G H	65992	602557	Spondyloepimetaphyseal dysplasia Shohat type	602557	C1865185	OMIM	1	1	34	16110	616177
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	7	46	2736	601150
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DDX59 CL E G H	83479	174300	Orofaciodigital syndrome 5	174300	C1868118	OMIM	1	6	16	25360	615464
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	17	85	14677	602635
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DES CL E G H	1674	601419	Myofibrillar myopathy 1	601419	C1832370	OMIM	1	126	396	2770	125660
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DGAT1 CL E G H	8694	615863	Diarrhea 7	615863	C4014516	OMIM	1	12	73	2843	604900
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DGKE CL E G H	8526	615008	Nephrotic syndrome, type 7	615008	C3554330	OMIM	1	40	36	2852	601440
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	111	2858	601465
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DGUOK CL E G H	1716	617068	Portal hypertension, noncirrhotic	617068	C4310735	OMIM	1	64	111	2858	601465
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	64	111	2858	601465
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DHCR24 CL E G H	1718	602398	Desmosterolosis	602398	C1865596	OMIM	1	10	88	2859	606418
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	218	292	2860	602858
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	8	68	20603	608172
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	9	69	2861	126060
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DHH CL E G H	50846	233420	46,XY sex reversal, type 7	233420	C1856273	OMIM	1	18	38	2865	605423
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	20	92	2867	126064
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	18	72	23537	614984
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	1	15	231	2876	602121
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	14	544	28648	614184
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	5	121	2896	608770
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	23	141	2898	238331
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DLL3 CL E G H	10683	277300	Spondylocostal dysostosis 1, autosomal recessive	277300	CN032975	OMIM	1	26	76	2909	602768
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DLX5 CL E G H	1749	220600	Split-hand/foot malformation 1 with sensorineural hearing loss	220600	C1857344	OMIM	1	11	19	2918	600028
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DMGDH CL E G H	29958	605850	Dimethylglycine dehydrogenase deficiency	605850	C1853892	OMIM	1	3	61	24475	605849
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DMP1 CL E G H	1758	241520	Autosomal recessive hypophosphatemic vitamin D refractory rickets	241520	C0342643	OMIM	1	11	74	2932	600980
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	9	26	2938	612186
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	8	121	2939	601810
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DNAAF1 CL E G H	123872	613193	Ciliary dyskinesia, primary, 13	613193	C2750790	OMIM	1	38	236	30539	613190
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DNAAF2 CL E G H	55172	612518	Ciliary dyskinesia, primary, 10	612518	C2675867	OMIM	1	6	158	20188	612517
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DNAAF3 CL E G H	352909	606763	Ciliary dyskinesia, primary, 2	606763	C1847554	OMIM	1	5	157	30492	614566
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DNAAF4 CL E G H	161582	615482	Primary ciliary dyskinesia 25	615482	C3809641	OMIM	1	19	76	21493	608706
HP:0000007	HP:0000007	Autosomal recessive inheritance	0	DNAAF5 CL E G H	54919	614874	Ciliary dyskinesia, primary, 18	614874	C3543825	OMIM	1	5	190	26013	614864
HP:0000007	HP:0000007	Autosomal recessive inheritance	0