Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CL E G H	105259599	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	28	0
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	A2M CL E G H	2	614036	Alpha-2-macroglobulin deficiency	614036	C3279661	OMIM	1	57	7	103950
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	A4GALT CL E G H	53947	111400	p phenotype	111400	C0599990	OMIM	1	61	18149	607922
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	A4GALT CL E G H	53947	111400	p phenotype	111400	C0599990	OMIM	1	71	18149	607922
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AAGAB CL E G H	79719	148600	Keratosis palmoplantaris papulosa	148600	C1835662	OMIM	1	82	25662	614888
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AAGAB CL E G H	79719	148600	Keratosis palmoplantaris papulosa	148600	C1835662	OMIM	1	87	25662	614888
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1		20	601065
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA1 CL E G H	19	604091	Familial hypoalphalipoproteinemia	604091	C1704429	OMIM	1	576	29	600046
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA1 CL E G H	19	604091	Familial hypoalphalipoproteinemia	604091	C1704429	OMIM	1	664	29	600046
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1	2128	34	601691
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1	2534	34	601691
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCA5 CL E G H	23461	135400	Gingival fibromatosis with hypertrichosis	135400	C1851120	OMIM	1	50	35	612503
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	412	45	171060
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	600803	Cholecystitis	600803	C0008325	OMIM	1	425	45	171060
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	614972	Cholestasis, intrahepatic, of pregnancy 3	614972	C3554241	OMIM	1	412	45	171060
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB4 CL E G H	5244	614972	Cholestasis, intrahepatic, of pregnancy 3	614972	C3554241	OMIM	1	425	45	171060
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	615402	Dyschromatosis universalis hereditaria 3	615402	C3809394	OMIM	1	80	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	615402	Dyschromatosis universalis hereditaria 3	615402	C3809394	OMIM	1	87	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	614497	Microphthalmia, isolated, with coloboma 7	614497	C3281027	OMIM	1	80	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	614497	Microphthalmia, isolated, with coloboma 7	614497	C3281027	OMIM	1	87	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	609153	Pseudohyperkalemia, familial, 2, due to red cell leak	609153	C1836705	OMIM	1	80	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCB6 CL E G H	10058	609153	Pseudohyperkalemia, familial, 2, due to red cell leak	609153	C1836705	OMIM	1	87	47	605452
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	914	57	603234
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	1137	57	603234
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	125853	Diabetes mellitus type 2	125853	C0011860	OMIM	1	1125	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	125853	Diabetes mellitus type 2	125853	C0011860	OMIM	1	1253	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1125	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1253	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1125	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1253	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1	1125	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1	1253	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	610374	Transient neonatal diabetes mellitus 2	610374	C1835887	OMIM	1	1125	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC8 CL E G H	6833	610374	Transient neonatal diabetes mellitus 2	610374	C1835887	OMIM	1	1253	59	600509
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	614050	Atrial fibrillation, familial, 12	614050	C3279695	OMIM	1	909	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	614050	Atrial fibrillation, familial, 12	614050	C3279695	OMIM	1	1043	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	608569	Dilated cardiomyopathy 1O	608569	C1837839	OMIM	1	909	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	608569	Dilated cardiomyopathy 1O	608569	C1837839	OMIM	1	1043	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	909	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1043	60	601439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	359	319	155760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	456	319	155760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	608361	Spondyloepiphyseal dysplasia, kimberley type	608361	C1842149	OMIM	1	359	319	155760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACAN CL E G H	176	608361	Spondyloepiphyseal dysplasia, kimberley type	608361	C1842149	OMIM	1	456	319	155760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1	229	25070	609377
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1	321	25070	609377
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	325	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	362	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	616852	Myopathy, scapulohumeroperoneal	616852	C4225181	OMIM	1	325	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	616852	Myopathy, scapulohumeroperoneal	616852	C4225181	OMIM	1	362	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	325	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	362	129	102610
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	611788	Aortic aneurysm, familial thoracic 6	611788	C2673186	OMIM	1	362	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	611788	Aortic aneurysm, familial thoracic 6	611788	C2673186	OMIM	1	387	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	614042	Moyamoya disease 5	614042	C3279690	OMIM	1	362	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	614042	Moyamoya disease 5	614042	C3279690	OMIM	1	387	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	613834	Multisystemic smooth muscle dysfunction syndrome	613834	C3151201	OMIM	1	362	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTA2 CL E G H	59	613834	Multisystemic smooth muscle dysfunction syndrome	613834	C3151201	OMIM	1	387	130	102620
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	322	132	102630
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	349	132	102630
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	607371	Juvenile-onset dystonia	607371	C1846331	OMIM	1	322	132	102630
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTB CL E G H	60	607371	Juvenile-onset dystonia	607371	C1846331	OMIM	1	349	132	102630
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	612794	Atrial septal defect 5	612794	C2748552	OMIM	1	507	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	612794	Atrial septal defect 5	612794	C2748552	OMIM	1	544	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	613424	Dilated cardiomyopathy 1R	613424	C3150681	OMIM	1	507	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	613424	Dilated cardiomyopathy 1R	613424	C3150681	OMIM	1	544	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	612098	Familial hypertrophic cardiomyopathy 11	612098	C2677506	OMIM	1	507	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTC1 CL E G H	70	612098	Familial hypertrophic cardiomyopathy 11	612098	C2677506	OMIM	1	544	143	102540
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG1 CL E G H	71	604717	Deafness, autosomal dominant 20	604717	C1858172	OMIM	1	347	144	102560
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG1 CL E G H	71	604717	Deafness, autosomal dominant 20	604717	C1858172	OMIM	1	370	144	102560
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG2 CL E G H	72	155310	Visceral myopathy	155310	C1835084	OMIM	1	63	145	102545
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTG2 CL E G H	72	155310	Visceral myopathy	155310	C1835084	OMIM	1	67	145	102545
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN1 CL E G H	87	615193	Platelet-type bleeding disorder 15	615193	C3554663	OMIM	1	135	163	102575
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN1 CL E G H	87	615193	Platelet-type bleeding disorder 15	615193	C3554663	OMIM	1	139	163	102575
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN2 CL E G H	88	612158	Dilated cardiomyopathy 1AA	612158	C2677338	OMIM	1	880	164	102573
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN2 CL E G H	88	612158	Dilated cardiomyopathy 1AA	612158	C2677338	OMIM	1	973	164	102573
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN4 CL E G H	81	603278	Focal segmental glomerulosclerosis 1	603278	C0333497	OMIM	1	169	166	604638
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACTN4 CL E G H	81	603278	Focal segmental glomerulosclerosis 1	603278	C0333497	OMIM	1	191	166	604638
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR1 CL E G H	90	135100	Progressive myositis ossificans	135100	C0016037	OMIM	1	122	171	102576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR1 CL E G H	90	135100	Progressive myositis ossificans	135100	C0016037	OMIM	1	141	171	102576
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR2B CL E G H	93	613751	Heterotaxy, visceral, 4, autosomal	613751	C3151057	OMIM	1	305	174	602730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVR2B CL E G H	93	613751	Heterotaxy, visceral, 4, autosomal	613751	C3151057	OMIM	1	315	174	602730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVRL1 CL E G H	94	600376	Hereditary hemorrhagic telangiectasia type 2	600376	C1838163	OMIM	1	590	175	601284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ACVRL1 CL E G H	94	600376	Hereditary hemorrhagic telangiectasia type 2	600376	C1838163	OMIM	1	655	175	601284
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	310	1839	607575
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	390	1839	607575
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADAM10 CL E G H	102	615537	Reticulate acropigmentation of Kitamura	615537	C0406811	OMIM	1	60	188	602192
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADAR CL E G H	103	127400	Symmetrical dyschromatosis of extremities	127400	C0406775	OMIM	1	471	225	146920
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADAR CL E G H	103	127400	Symmetrical dyschromatosis of extremities	127400	C0406775	OMIM	1	654	225	146920
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRE2 CL E G H	30817	125630	Vibratory urticaria	125630	C1852146	OMIM	1	41	3337	606100
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRV1 CL E G H	84059	604352	Febrile seizures, familial, 4	604352	C1858493	OMIM	1	2459	17416	602851
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADGRV1 CL E G H	84059	604352	Febrile seizures, familial, 4	604352	C1858493	OMIM	1	3168	17416	602851
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	251	15766	611386
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	268	15766	611386
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADRA2B CL E G H	151	607876	Epilepsy, familial adult myoclonic 2	607876	C1842852	OMIM	1	75	282	104260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ADRA2B CL E G H	151	607876	Epilepsy, familial adult myoclonic 2	607876	C1842852	OMIM	1	78	282	104260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	112	17869	604417
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	157	17869	604417
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	349	315	604581
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	357	315	604581
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AGBL1 CL E G H	123624	615523	Corneal dystrophy, Fuchs endothelial, 8	615523	C3809798	OMIM	1	47	26504	615496
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AGBL1 CL E G H	123624	615523	Corneal dystrophy, Fuchs endothelial, 8	615523	C3809798	OMIM	1	49	26504	615496
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	312	25230	615790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	373	25230	615790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	395	358	605555
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	487	358	605555
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	102200	Somatotroph adenoma	102200	C0346302	OMIM	1	395	358	605555
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIP CL E G H	9049	102200	Somatotroph adenoma	102200	C0346302	OMIM	1	487	358	605555
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1	641	360	607358
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1	718	360	607358
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKAP9 CL E G H	10142	611820	Long QT syndrome 11	611820	C2678483	OMIM	1	1108	379	604001
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKAP9 CL E G H	10142	611820	Long QT syndrome 11	611820	C2678483	OMIM	1	1324	379	604001
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	114500	Carcinoma of colon	114500	C0699790	OMIM	1	380	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	114500	Carcinoma of colon	114500	C0699790	OMIM	1	417	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	380	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	114480	Familial cancer of breast	114480	C0346153	OMIM	1	417	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	380	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT1 CL E G H	207	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	417	391	164730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	125853	Diabetes mellitus type 2	125853	C0011860	OMIM	1	77	392	164731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	125853	Diabetes mellitus type 2	125853	C0011860	OMIM	1	94	392	164731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	240900	Hypoglycemia, neonatal, simulating foetopathia diabetica	240900	C1855860	OMIM	1	77	392	164731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT2 CL E G H	208	240900	Hypoglycemia, neonatal, simulating foetopathia diabetica	240900	C1855860	OMIM	1	94	392	164731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT3 CL E G H	10000	615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	615937	C4014738	OMIM	1	228	393	611223
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AKT3 CL E G H	10000	615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	615937	C4014738	OMIM	1	249	393	611223
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	346	9722	138250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	392	9722	138250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	346	9722	138250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	392	9722	138250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALDH2 CL E G H	217	610251	Acute alcohol sensitivity	610251	C2674838	OMIM	1	39	404	100650
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALPL CL E G H	249	146300	Adult hypophosphatasia	146300	C0268413	OMIM	1	575	438	171760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALPL CL E G H	249	146300	Adult hypophosphatasia	146300	C0268413	OMIM	1	671	438	171760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALX4 CL E G H	60529	609597	Parietal foramina 2	609597	C1865044	OMIM	1	245	450	605420
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ALX4 CL E G H	60529	609597	Parietal foramina 2	609597	C1865044	OMIM	1	246	450	605420
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	86	483	105850
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	91	483	105850
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPTL3 CL E G H	27329	605019	Hypobetalipoproteinemia, familial, 2	605019	C1857970	OMIM	1	56	491	604774
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPTL3 CL E G H	27329	605019	Hypobetalipoproteinemia, familial, 2	605019	C1857970	OMIM	1	63	491	604774
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPTL4 CL E G H	51129	615881	Plasma triglyceride level quantitative trait locus	615881	C4014553	OMIM	1	16	16039	605910
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANGPTL4 CL E G H	51129	615881	Plasma triglyceride level quantitative trait locus	615881	C4014553	OMIM	1	17	16039	605910
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK1 CL E G H	286	182900	Spherocytosis type 1	182900	C2674218	OMIM	1	567	492	612641
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK1 CL E G H	286	182900	Spherocytosis type 1	182900	C2674218	OMIM	1	604	492	612641
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK2 CL E G H	287	600919	Cardiac arrhythmia, ankyrin B-related	600919	C1970119	OMIM	1	1677	493	106410
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANK2 CL E G H	287	600919	Cardiac arrhythmia, ankyrin B-related	600919	C1970119	OMIM	1	1878	493	106410
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	118600	Chondrocalcinosis 2	118600	C0856830	OMIM	1	410	15492	605145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	118600	Chondrocalcinosis 2	118600	C0856830	OMIM	1	436	15492	605145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	123000	Craniometaphyseal dysplasia, autosomal dominant	123000	C1852502	OMIM	1	410	15492	605145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKH CL E G H	56172	123000	Craniometaphyseal dysplasia, autosomal dominant	123000	C1852502	OMIM	1	436	15492	605145
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1101	21316	611192
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1184	21316	611192
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD26 CL E G H	22852	188000	Thrombocytopenia 2	188000	C1861185	OMIM	1	349	29186	610855
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANKRD26 CL E G H	22852	188000	Thrombocytopenia 2	188000	C1861185	OMIM	1	399	29186	610855
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANLN CL E G H	54443	616032	Focal segmental glomerulosclerosis 8	616032	C4014993	OMIM	1	168	14082	616027
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANLN CL E G H	54443	616032	Focal segmental glomerulosclerosis 8	616032	C4014993	OMIM	1	224	14082	616027
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO3 CL E G H	63982	615034	Dystonia 24	615034	C3554374	OMIM	1	307	14004	610110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO3 CL E G H	63982	615034	Dystonia 24	615034	C3554374	OMIM	1	327	14004	610110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO5 CL E G H	203859	166260	Gnathodiaphyseal dysplasia	166260	C1833736	OMIM	1	786	27337	608662
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ANO5 CL E G H	203859	166260	Gnathodiaphyseal dysplasia	166260	C1833736	OMIM	1	900	27337	608662
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP2S1 CL E G H	1175	600740	Hypocalciuric hypercalcemia, familial, type III	600740	C1833372	OMIM	1	53	565	602242
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP2S1 CL E G H	1175	600740	Hypocalciuric hypercalcemia, familial, type III	600740	C1833372	OMIM	1	61	565	602242
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP4E1 CL E G H	23431	184450	Stuttering, familial persistent 1	184450	C3489627	OMIM	1	238	573	607244
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AP4E1 CL E G H	23431	184450	Stuttering, familial persistent 1	184450	C3489627	OMIM	1	332	573	607244
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	114500	Carcinoma of colon	114500	C0699790	OMIM	1	9051	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	114500	Carcinoma of colon	114500	C0699790	OMIM	1	9963	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	135290	Desmoid disease, hereditary	135290	C1851124	OMIM	1	9051	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	135290	Desmoid disease, hereditary	135290	C1851124	OMIM	1	9963	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	175100	Familial adenomatous polyposis 1	175100	C2713442	OMIM	1	9051	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	175100	Familial adenomatous polyposis 1	175100	C2713442	OMIM	1	9963	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	9051	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APC CL E G H	324	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	9963	583	611731
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APCDD1 CL E G H	147495	605389	Hypotrichosis simplex	605389	C1854310	OMIM	1	117	15718	607479
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APCDD1 CL E G H	147495	605389	Hypotrichosis simplex	605389	C1854310	OMIM	1	121	15718	607479
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	604091	Familial hypoalphalipoproteinemia	604091	C1704429	OMIM	1	99	600	107680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	604091	Familial hypoalphalipoproteinemia	604091	C1704429	OMIM	1	126	600	107680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	99	600	107680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA1 CL E G H	335	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	126	600	107680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA5 CL E G H	116519	144650	Familial type 5 hyperlipoproteinemia	144650	C0020481	OMIM	1	54	17288	606368
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOA5 CL E G H	116519	144650	Familial type 5 hyperlipoproteinemia	144650	C0020481	OMIM	1	62	17288	606368
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOB CL E G H	338	144010	Hypercholesterolemia, autosomal dominant, type B	144010	C1704417	OMIM	1	2340	603	107730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOB CL E G H	338	144010	Hypercholesterolemia, autosomal dominant, type B	144010	C1704417	OMIM	1	2465	603	107730
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	104310	Alzheimer disease 2	104310	C1863051	OMIM	1	78	613	107741
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	104310	Alzheimer disease 2	104310	C1863051	OMIM	1	80	613	107741
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	606889	Alzheimer disease, type 4	606889	C1847200	OMIM	1	78	613	107741
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APOE CL E G H	348	606889	Alzheimer disease, type 4	606889	C1847200	OMIM	1	80	613	107741
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	104300	Alzheimer's disease	104300	C0002395	OMIM	1	320	620	104760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	104300	Alzheimer's disease	104300	C0002395	OMIM	1	364	620	104760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	320	620	104760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	364	620	104760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	239	634	107777
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	247	634	107777
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP5 CL E G H	362	600231	Diffuse palmoplantar keratoderma, Bothnian type	600231	C1838359	OMIM	1	41	638	600442
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AQP5 CL E G H	362	600231	Diffuse palmoplantar keratoderma, Bothnian type	600231	C1838359	OMIM	1	47	638	600442
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	69	649	600820
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	95	649	600820
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGAP26 CL E G H	23092	607785	Juvenile myelomonocytic leukemia	607785	C0349639	OMIM	1	41	17073	605370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	174	29216	610911
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	210	29216	610911
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGEF10 CL E G H	9639	608236	Slowed nerve conduction velocity, autosomal dominant	608236	C1842357	OMIM	1	324	14103	608136
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARHGEF10 CL E G H	9639	608236	Slowed nerve conduction velocity, autosomal dominant	608236	C1842357	OMIM	1	412	14103	608136
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	383	11110	603024
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	442	11110	603024
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	88	25781	615549
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	89	25781	615549
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	420	735	613468
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	593	735	613468
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASB10 CL E G H	136371	603383	Glaucoma 1, open angle, F	603383	C1863926	OMIM	1	155	17185	615054
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASB10 CL E G H	136371	603383	Glaucoma 1, open angle, F	603383	C1863926	OMIM	1	163	17185	615054
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASCL1 CL E G H	429	209880	Congenital central hypoventilation	209880	C1275808	OMIM	1	32	738	100790
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	156	19088	607999
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	173	19088	607999
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	298	18318	612990
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	388	18318	612990
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	111	23805	612991
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	170	23805	612991
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	250	25567	612316
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	264	25567	612316
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	310	11231	606439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	356	11231	606439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	310	11231	606439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	356	11231	606439
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL3 CL E G H	25923	615632	Hereditary sensory neuropathy type IF	615632	C3810194	OMIM	1	220	24526	609369
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATL3 CL E G H	25923	615632	Hereditary sensory neuropathy type IF	615632	C3810194	OMIM	1	266	24526	609369
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATN1 CL E G H	1822	125370	Dentatorubral pallidoluysian atrophy	125370	C0751781	OMIM	1	96	3033	607462
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATN1 CL E G H	1822	125370	Dentatorubral pallidoluysian atrophy	125370	C0751781	OMIM	1	103	3033	607462
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	104290	Alternating hemiplegia of childhood 1	104290	C3549447	OMIM	1	726	800	182340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	104290	Alternating hemiplegia of childhood 1	104290	C3549447	OMIM	1	801	800	182340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	726	800	182340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	801	800	182340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	625	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	687	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	625	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	687	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	625	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	687	801	182350
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	101900	Acrokeratosis verruciformis of Hopf	101900	C0265971	OMIM	1	180	812	108740
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	101900	Acrokeratosis verruciformis of Hopf	101900	C0265971	OMIM	1	184	812	108740
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	124200	Keratosis follicularis	124200	C0022595	OMIM	1	180	812	108740
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2A2 CL E G H	488	124200	Keratosis follicularis	124200	C0022595	OMIM	1	184	812	108740
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2C1 CL E G H	27032	169600	Familial benign pemphigus	169600	C0085106	OMIM	1	160	13211	604384
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP2C1 CL E G H	27032	169600	Familial benign pemphigus	169600	C0085106	OMIM	1	164	13211	604384
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	124480	Deafness, congenital, with onychodystrophy, autosomal dominant	124480	C2675730	OMIM	1	115	854	606939
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	124480	Deafness, congenital, with onychodystrophy, autosomal dominant	124480	C2675730	OMIM	1	118	854	606939
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	1	115	854	606939
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	1	118	854	606939
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	494	3706	602397
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATP8B1 CL E G H	5205	147480	Cholestasis of pregnancy	147480	C0268318	OMIM	1	496	3706	602397
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	1	755	882	601215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATR CL E G H	545	614564	Cutaneous telangiectasia and cancer syndrome, familial	614564	C3281203	OMIM	1	1007	882	601215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	99	10549	611150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	101	10549	611150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	44	7106	607047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	37	10560	607640
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	39	10560	607640
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	72	10561	603680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	76	10561	603680
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AVP CL E G H	551	125700	Neurohypophyseal diabetes insipidus	125700	C0687720	OMIM	1	76	894	192340
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN1 CL E G H	8312	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	83	903	603816
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN1 CL E G H	8312	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	84	903	603816
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	114500	Carcinoma of colon	114500	C0699790	OMIM	1	1893	904	604025
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	114500	Carcinoma of colon	114500	C0699790	OMIM	1	2161	904	604025
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	608615	Oligodontia-colorectal cancer syndrome	608615	C1837750	OMIM	1	1893	904	604025
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXIN2 CL E G H	8313	608615	Oligodontia-colorectal cancer syndrome	608615	C1837750	OMIM	1	2161	904	604025
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXL CL E G H	558	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	78	905	109135
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	AXL CL E G H	558	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	87	905	109135
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	B2M CL E G H	567	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	32	914	109700
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	B2M CL E G H	567	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	39	914	109700
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	613881	Dilated cardiomyopathy 1HH	613881	C3151293	OMIM	1	603	939	603883
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	613881	Dilated cardiomyopathy 1HH	613881	C3151293	OMIM	1	738	939	603883
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	603	939	603883
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	738	939	603883
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1514	950	603089
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1683	950	603089
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	125	13221	606557
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	129	13221	606557
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	118	13222	606558
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	197	13222	606558
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCO1 CL E G H	53630	115300	Hypercarotenemia and vitamin a deficiency, autosomal dominant	115300	C2676023	OMIM	1	101	13815	605748
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BCO1 CL E G H	53630	115300	Hypercarotenemia and vitamin a deficiency, autosomal dominant	115300	C2676023	OMIM	1	103	13815	605748
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	613194	Retinitis pigmentosa 50	613194	C2750788	OMIM	1	499	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	613194	Retinitis pigmentosa 50	613194	C2750788	OMIM	1	595	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	153700	Vitelliform macular dystrophy type 2	153700	C0339510	OMIM	1	499	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	153700	Vitelliform macular dystrophy type 2	153700	C0339510	OMIM	1	595	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	193220	Vitreoretinochoroidopathy	193220	C1860406	OMIM	1	499	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BEST1 CL E G H	7439	193220	Vitreoretinochoroidopathy	193220	C1860406	OMIM	1	595	12703	607854
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP1 CL E G H	631	611391	Cataract 33, multiple types	611391	C3808107	OMIM	1	113	1040	603307
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP1 CL E G H	631	611391	Cataract 33, multiple types	611391	C3808107	OMIM	1	118	1040	603307
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP2 CL E G H	8419	611597	Cataract 12, multiple types	611597	C3808115	OMIM	1	99	1041	603212
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BFSP2 CL E G H	8419	611597	Cataract 12, multiple types	611597	C3808115	OMIM	1	105	1041	603212
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	1	445	17208	609797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	1	506	17208	609797
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BLK CL E G H	640	613375	Maturity-onset diabetes of the young, type 11	613375	C3150618	OMIM	1	319	1057	191305
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BLK CL E G H	640	613375	Maturity-onset diabetes of the young, type 11	613375	C3150618	OMIM	1	346	1057	191305
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BLVRA CL E G H	644	614156	Hyperbiliverdinemia	614156	C3279964	OMIM	1	29	1062	109750
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP15 CL E G H	9210	300510	Ovarian dysgenesis 2	300510	C1845294	OMIM	1	193	1068	300247
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP15 CL E G H	9210	300510	Ovarian dysgenesis 2	300510	C1845294	OMIM	1	196	1068	300247
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP2 CL E G H	650	112600	Type A2 brachydactyly	112600	C1832702	OMIM	1	92	1069	112261
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP2 CL E G H	650	112600	Type A2 brachydactyly	112600	C1832702	OMIM	1	111	1069	112261
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	1	112	1071	112262
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	1	129	1071	112262
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	610069	Hereditary mixed polyposis syndrome 2	610069	C1864730	OMIM	1	1455	1076	601299
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	610069	Hereditary mixed polyposis syndrome 2	610069	C1864730	OMIM	1	1633	1076	601299
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	174900	Juvenile polyposis syndrome	174900	C0345893	OMIM	1	1455	1076	601299
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1A CL E G H	657	174900	Juvenile polyposis syndrome	174900	C0345893	OMIM	1	1633	1076	601299
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	616849	Brachydactyly, type a1, d	616849	C4225183	OMIM	1	251	1077	603248
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	616849	Brachydactyly, type a1, d	616849	C4225183	OMIM	1	273	1077	603248
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	112600	Type A2 brachydactyly	112600	C1832702	OMIM	1	251	1077	603248
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR1B CL E G H	658	112600	Type A2 brachydactyly	112600	C1832702	OMIM	1	273	1077	603248
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	178600	Primary pulmonary hypertension	178600	C0152171	OMIM	1	846	1078	600799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	178600	Primary pulmonary hypertension	178600	C0152171	OMIM	1	896	1078	600799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	265450	Pulmonary veno-occlusive disease	265450	C0034091	OMIM	1	846	1078	600799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMPR2 CL E G H	659	265450	Pulmonary veno-occlusive disease	265450	C0034091	OMIM	1	896	1078	600799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMS1 CL E G H	9790	107600	Aplasia cutis congenita	107600	C0282160	OMIM	1	56	23505	611448
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BMS1 CL E G H	9790	107600	Aplasia cutis congenita	107600	C0282160	OMIM	1	57	23505	611448
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	618	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	680	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	618	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	680	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	211980	Lung cancer	211980	C0684249	OMIM	1	618	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	211980	Lung cancer	211980	C0684249	OMIM	1	680	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	618	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	680	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	618	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	680	1097	164757
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	12207	1100	113705
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA1 CL E G H	672	114480	Familial cancer of breast	114480	C0346153	OMIM	1	12586	1100	113705
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	194070	Wilms tumor 1	194070	CN033288	OMIM	1	13912	1101	600185
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRCA2 CL E G H	675	194070	Wilms tumor 1	194070	CN033288	OMIM	1	14742	1101	600185
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	160	14255	602410
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	173	14255	602410
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	330	15832	606158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	373	15832	606158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	270685	Spastic paraplegia 17	270685	CN074197	OMIM	1	330	15832	606158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BSCL2 CL E G H	26580	270685	Spastic paraplegia 17	270685	CN074197	OMIM	1	373	15832	606158
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BUB1B CL E G H	701	114500	Carcinoma of colon	114500	C0699790	OMIM	1	511	1149	602860
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	BUB1B CL E G H	701	114500	Carcinoma of colon	114500	C0699790	OMIM	1	617	1149	602860
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1QTNF5 CL E G H	114902	605670	Late-onset retinal degeneration	605670	C1854065	OMIM	1	413	14344	608752
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1QTNF5 CL E G H	114902	605670	Late-onset retinal degeneration	605670	C1854065	OMIM	1	521	14344	608752
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1R CL E G H	715	130080	Ehlers-Danlos syndrome, type 8	130080	C0268347	OMIM	1	96	1246	613785
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1R CL E G H	715	130080	Ehlers-Danlos syndrome, type 8	130080	C0268347	OMIM	1	104	1246	613785
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1S CL E G H	716	617174	Ehlers-Danlos syndrome, periodontal type, 2	617174	C4310681	OMIM	1	121	1247	120580
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C1S CL E G H	716	617174	Ehlers-Danlos syndrome, periodontal type, 2	617174	C4310681	OMIM	1	201	1247	120580
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	161	28337	614260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	165	28337	614260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CA12 CL E G H	771	143860	Hyperchlorhidrosis, isolated	143860	C1840437	OMIM	1	56	1371	603263
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CA4 CL E G H	762	600852	Retinitis pigmentosa 17	600852	C1833245	OMIM	1	142	1375	114760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CA4 CL E G H	762	600852	Retinitis pigmentosa 17	600852	C1833245	OMIM	1	188	1375	114760
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	2047	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	2326	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	2047	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	2326	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2047	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2326	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2047	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2326	1388	601011
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	351	1389	601012
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	392	1389	601012
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	611875	Brugada syndrome 3	611875	C2678478	OMIM	1	1658	1390	114205
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	611875	Brugada syndrome 3	611875	C2678478	OMIM	1	1830	1390	114205
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	1	1658	1390	114205
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	1	1830	1390	114205
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1D CL E G H	776	615474	Primary aldosteronism, seizures, and neurologic abnormalities	615474	C3809609	OMIM	1	477	1391	114206
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1D CL E G H	776	615474	Primary aldosteronism, seizures, and neurologic abnormalities	615474	C3809609	OMIM	1	744	1391	114206
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	357	1394	604065
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	374	1394	604065
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1H CL E G H	8912	617027	Hyperaldosteronism, familial, type IV	617027	C4310756	OMIM	1	1707	1395	607904
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1H CL E G H	8912	617027	Hyperaldosteronism, familial, type IV	617027	C4310756	OMIM	1	2095	1395	607904
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	1	1154	1397	114208
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	1	1327	1397	114208
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB2 CL E G H	783	611876	Brugada syndrome 4	611876	C2678477	OMIM	1	519	1402	600003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB2 CL E G H	783	611876	Brugada syndrome 4	611876	C2678477	OMIM	1	568	1402	600003
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB4 CL E G H	785	613855	Episodic ataxia, type 5	613855	C1866039	OMIM	1	300	1404	601949
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNB4 CL E G H	785	613855	Episodic ataxia, type 5	613855	C1866039	OMIM	1	305	1404	601949
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNG2 CL E G H	10369	614256	Mental retardation, autosomal dominant 10	614256	C3280284	OMIM	1	44	1406	602911
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CACNG2 CL E G H	10369	614256	Mental retardation, autosomal dominant 10	614256	C3280284	OMIM	1	45	1406	602911
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	616247	Long QT syndrome 14	616247	C4015671	OMIM	1	90	1442	114180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	616247	Long QT syndrome 14	616247	C4015671	OMIM	1	94	1442	114180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	614916	C3554047	OMIM	1	90	1442	114180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM1 CL E G H	801	614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	614916	C3554047	OMIM	1	94	1442	114180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM2 CL E G H	805	616249	Long QT syndrome 15	616249	C4015695	OMIM	1	103	1445	114182
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALM2 CL E G H	805	616249	Long QT syndrome 15	616249	C4015695	OMIM	1	112	1445	114182
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALR CL E G H	811	187950	Essential thrombocythemia	187950	C0040028	OMIM	1	39	1455	109091
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALR CL E G H	811	187950	Essential thrombocythemia	187950	C0040028	OMIM	1	43	1455	109091
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALR CL E G H	811	254450	Myelofibrosis	254450	C0001815	OMIM	1	39	1455	109091
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CALR CL E G H	811	254450	Myelofibrosis	254450	C0001815	OMIM	1	43	1455	109091
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	56	1460	114078
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	62	1460	114078
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	88	1461	607707
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	169	1461	607707
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	284	18806	611501
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	298	18806	611501
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAPN5 CL E G H	726	193235	Vitreoretinopathy, neovascular inflammatory	193235	C0242852	OMIM	1	237	1482	602537
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAPN5 CL E G H	726	193235	Vitreoretinopathy, neovascular inflammatory	193235	C0242852	OMIM	1	326	1482	602537
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD11 CL E G H	84433	616452	B-cell expansion with NFKB and T-cell anergy	616452	CN231446	OMIM	1	450	16393	607210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD11 CL E G H	84433	616452	B-cell expansion with NFKB and T-cell anergy	616452	CN231446	OMIM	1	540	16393	607210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	173200	Pityriasis rubra pilaris	173200	C0032027	OMIM	1	527	16446	607211
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	173200	Pityriasis rubra pilaris	173200	C0032027	OMIM	1	646	16446	607211
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	602723	Psoriasis susceptibility 2	602723	C1864497	OMIM	1	527	16446	607211
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CARD14 CL E G H	79092	602723	Psoriasis susceptibility 2	602723	C1864497	OMIM	1	646	16446	607211
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	297	1500	601762
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	346	1500	601762
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP8 CL E G H	841	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	194	1509	601763
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASP8 CL E G H	841	114550	Hepatocellular carcinoma	114550	C2239176	OMIM	1	230	1509	601763
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	47	1512	114250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	95	1512	114250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ2 CL E G H	845	604772	Catecholaminergic polymorphic ventricular tachycardia type 1	604772	C4053736	OMIM	1	378	1513	114251
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASQ2 CL E G H	845	604772	Catecholaminergic polymorphic ventricular tachycardia type 1	604772	C4053736	OMIM	1	431	1513	114251
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	601198	Hypocalcemia, autosomal dominant 1	601198	C0342345	OMIM	1	1318	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	601198	Hypocalcemia, autosomal dominant 1	601198	C0342345	OMIM	1	1569	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	145980	Hypocalciuric hypercalcemia, familial, type 1	145980	C0342637	OMIM	1	1318	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	145980	Hypocalciuric hypercalcemia, familial, type 1	145980	C0342637	OMIM	1	1569	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	1318	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	1569	1514	601199
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	81	1527	601047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	85	1527	601047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	615343	Primary pulmonary hypertension 3	615343	C3809192	OMIM	1	81	1527	601047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV1 CL E G H	857	615343	Primary pulmonary hypertension 3	615343	C3809192	OMIM	1	85	1527	601047
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	335	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	354	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	335	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	354	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	192600	Familial hypertrophic cardiomyopathy 1	192600	C3495498	OMIM	1	335	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	192600	Familial hypertrophic cardiomyopathy 1	192600	C3495498	OMIM	1	354	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	611818	Long QT syndrome 9	611818	C2678485	OMIM	1	335	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	611818	Long QT syndrome 9	611818	C2678485	OMIM	1	354	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	335	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	354	1529	601253
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBFB CL E G H	865	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	42	1539	121360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBFB CL E G H	865	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	43	1539	121360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	607785	Juvenile myelomonocytic leukemia	607785	C0349639	OMIM	1	706	1541	165360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	607785	Juvenile myelomonocytic leukemia	607785	C0349639	OMIM	1	858	1541	165360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	706	1541	165360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	858	1541	165360
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBX2 CL E G H	84733	613080	46,XY sex reversal, type 5	613080	C2751317	OMIM	1	39	1552	602770
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CBX2 CL E G H	84733	613080	46,XY sex reversal, type 5	613080	C2751317	OMIM	1	48	1552	602770
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC141 CL E G H	285025	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	144	26821	616031
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC141 CL E G H	285025	146110	Hypogonadotropic hypogonadism 7 with or without anosmia	146110	C0342384	OMIM	1	167	26821	616031
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC50 CL E G H	152137	607453	Deafness, autosomal dominant 44	607453	C1843895	OMIM	1	184	18111	611051
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC50 CL E G H	152137	607453	Deafness, autosomal dominant 44	607453	C1843895	OMIM	1	195	18111	611051
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC78 CL E G H	124093	614807	Myopathy, centronuclear, 4	614807	C3553709	OMIM	1	329	14153	614666
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC78 CL E G H	124093	614807	Myopathy, centronuclear, 4	614807	C3553709	OMIM	1	392	14153	614666
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	258	19967	611204
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	265	19967	611204
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	196	21708	607929
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	223	21708	607929
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCND2 CL E G H	894	615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	615938	C4014742	OMIM	1	110	1583	123833
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CCND2 CL E G H	894	615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	615938	C4014742	OMIM	1	117	1583	123833
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD164 CL E G H	8763	616969	Deafness, autosomal dominant 66	616969	C4283893	OMIM	1	66	1632	603356
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD164 CL E G H	8763	616969	Deafness, autosomal dominant 66	616969	C4283893	OMIM	1	74	1632	603356
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	223	1633	107265
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	272	1633	107265
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	193	1663	173510
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CD36 CL E G H	948	608404	Platelet glycoprotein IV deficiency	608404	C1842090	OMIM	1	196	1663	173510
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	145000	Hyperparathyroidism 1	145000	C1840402	OMIM	1	704	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	145000	Hyperparathyroidism 1	145000	C1840402	OMIM	1	828	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	145001	Hyperparathyroidism 2	145001	C1704981	OMIM	1	704	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	145001	Hyperparathyroidism 2	145001	C1704981	OMIM	1	828	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	608266	Parathyroid carcinoma	608266	C0687150	OMIM	1	704	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDC73 CL E G H	79577	608266	Parathyroid carcinoma	608266	C0687150	OMIM	1	828	16783	607393
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	119580	Ectropion inferior cleft lip and or palate	119580	C1861536	OMIM	1	2818	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	119580	Ectropion inferior cleft lip and or palate	119580	C1861536	OMIM	1	3046	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	137215	Hereditary diffuse gastric cancer	137215	C1708349	OMIM	1	2818	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	137215	Hereditary diffuse gastric cancer	137215	C1708349	OMIM	1	3046	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	2818	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH1 CL E G H	999	167000	Neoplasm of ovary	167000	C0919267	OMIM	1	3046	1748	192090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH15 CL E G H	1013	612580	Mental retardation, autosomal dominant 3	612580	C2675488	OMIM	1	179	1754	114019
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDH15 CL E G H	1013	612580	Mental retardation, autosomal dominant 3	612580	C2675488	OMIM	1	196	1754	114019
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	191	1733	603309
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	210	1733	603309
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	507	1785	600778
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	596	1785	600778
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	673	1786	600856
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	806	1786	600856
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	614732	C1846009	OMIM	1	673	1786	600856
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN1C CL E G H	1028	614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	614732	C1846009	OMIM	1	806	1786	600856
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	971	1787	600160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	1062	1787	600160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	606719	Melanoma-pancreatic cancer syndrome	606719	C1838547	OMIM	1	971	1787	600160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDKN2A CL E G H	1029	606719	Melanoma-pancreatic cancer syndrome	606719	C1838547	OMIM	1	1062	1787	600160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	489	17104	608707
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	518	17104	608707
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDSN CL E G H	1041	146520	Hypotrichosis 2	146520	C1840299	OMIM	1	72	1802	602593
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CDSN CL E G H	1041	146520	Hypotrichosis 2	146520	C1840299	OMIM	1	76	1802	602593
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEACAM16 CL E G H	388551	614614	Deafness, autosomal dominant 4b	614614	C3281297	OMIM	1	131	31948	614591
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEACAM16 CL E G H	388551	614614	Deafness, autosomal dominant 4b	614614	C3281297	OMIM	1	151	31948	614591
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEBPA CL E G H	1050	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	500	1833	116897
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEBPA CL E G H	1050	601626	Acute myeloid leukemia	601626	C0023467	OMIM	1	631	1833	116897
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEL CL E G H	1056	609812	Maturity-onset diabetes of the young, type 8	609812	C1853297	OMIM	1	151	1848	114840
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CEL CL E G H	1056	609812	Maturity-onset diabetes of the young, type 8	609812	C1853297	OMIM	1	164	1848	114840
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFC1 CL E G H	55997	605376	Heterotaxy, visceral, 2, autosomal	605376	C1415817	OMIM	1	34	18292	605194
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFC1 CL E G H	55997	605376	Heterotaxy, visceral, 2, autosomal	605376	C1415817	OMIM	1	36	18292	605194
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	126700	Basal laminar drusen	126700	C0730295	OMIM	1	294	4883	134370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	126700	Basal laminar drusen	126700	C0730295	OMIM	1	394	4883	134370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	609814	Factor H deficiency	609814	C0398777	OMIM	1	294	4883	134370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFH CL E G H	3075	609814	Factor H deficiency	609814	C0398777	OMIM	1	394	4883	134370
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR5 CL E G H	81494	614809	CFHR5 deficiency	614809	C3553720	OMIM	1	149	24668	608593
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CFHR5 CL E G H	81494	614809	CFHR5 deficiency	614809	C3553720	OMIM	1	156	24668	608593
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	191	20311	616327
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	202	20311	616327
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	205	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	230	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	205	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	230	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	205	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	230	15559	615903
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD2 CL E G H	51142	616710	Parkinson disease 22, autosomal dominant	616710	C4225238	OMIM	1	60	21645	616244
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHCHD2 CL E G H	51142	616710	Parkinson disease 22, autosomal dominant	616710	C4225238	OMIM	1	67	21645	616244
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	1163	1917	602119
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	1326	1917	602119
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	190	1919	603277
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	217	1919	603277
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1752	20626	608892
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1980	20626	608892
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	612370	Kallmann syndrome 5	612370	C2675302	OMIM	1	1752	20626	608892
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHD7 CL E G H	55636	612370	Kallmann syndrome 5	612370	C2675302	OMIM	1	1980	20626	608892
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHEK2 CL E G H	11200	609265	Li-Fraumeni syndrome 2	609265	C1836482	OMIM	1	2594	16627	604373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHEK2 CL E G H	11200	609265	Li-Fraumeni syndrome 2	609265	C1836482	OMIM	1	2851	16627	604373
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	1	110	24537	609512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	1	130	24537	609512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	110	24537	609512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	130	24537	609512
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP4B CL E G H	128866	605387	Cataract, posterior polar, 3	605387	C1854311	OMIM	1	32	16171	610897
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHMP4B CL E G H	128866	605387	Cataract, posterior polar, 3	605387	C1854311	OMIM	1	35	16171	610897
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHN1 CL E G H	1123	604356	Duane syndrome type 2	604356	C0751083	OMIM	1	116	1943	118423
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHN1 CL E G H	1123	604356	Duane syndrome type 2	604356	C0751083	OMIM	1	117	1943	118423
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	316	1955	100690
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	357	1955	100690
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	316	1955	100690
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	357	1955	100690
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	540	1956	118502
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	589	1956	118502
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA4 CL E G H	1137	600513	Epilepsy, nocturnal frontal lobe, type 1	600513	C1838049	OMIM	1	743	1958	118504
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA4 CL E G H	1137	600513	Epilepsy, nocturnal frontal lobe, type 1	600513	C1838049	OMIM	1	816	1958	118504
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA7 CL E G H	1139	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	1	340	1960	118511
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNA7 CL E G H	1139	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	1	346	1960	118511
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	284	1961	100710
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	330	1961	100710
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB2 CL E G H	1141	605375	Epilepsy, nocturnal frontal lobe, type 3	605375	C1854335	OMIM	1	377	1962	118507
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNB2 CL E G H	1141	605375	Epilepsy, nocturnal frontal lobe, type 3	605375	C1854335	OMIM	1	438	1962	118507
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	331	1965	100720
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	373	1965	100720
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	599	1966	100725
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	673	1966	100725
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHST3 CL E G H	9469	143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	143095	C1840471	OMIM	1	285	1971	603799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CHST3 CL E G H	9469	143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	143095	C1840471	OMIM	1	333	1971	603799
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	191	14214	612082
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	212	14214	612082
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CIITA CL E G H	4261	209920	Bare lymphocyte syndrome 2	209920	C2931418	OMIM	1	763	7067	600005
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CIITA CL E G H	4261	209920	Bare lymphocyte syndrome 2	209920	C2931418	OMIM	1	883	7067	600005
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	614433	Atrial septal defect 8	614433	C3280790	OMIM	1	41	1987	602937
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	614433	Atrial septal defect 8	614433	C3280790	OMIM	1	42	1987	602937
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	614431	Ventricular septal defect 2	614431	C3280783	OMIM	1	41	1987	602937
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CITED2 CL E G H	10370	614431	Ventricular septal defect 2	614431	C3280783	OMIM	1	42	1987	602937
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	1	686	2019	118425
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	1	789	2019	118425
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	388	2025	602727
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	549	2025	602727
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLPX CL E G H	10845	618015	PROTOPORPHYRIA, ERYTHROPOIETIC, 2	618015	CN248523	OMIM	1	17	2088	615611
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CLPX CL E G H	10845	618015	PROTOPORPHYRIA, ERYTHROPOIETIC, 2	618015	CN248523	OMIM	1	23	2088	615611
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	16	13164	116955
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	17	13164	116955
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	613882	Hypomagnesemia 6, renal	613882	C3151295	OMIM	1	176	103	607803
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	613882	Hypomagnesemia 6, renal	613882	C3151295	OMIM	1	191	103	607803
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	176	103	607803
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	191	103	607803
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COCH CL E G H	1690	601369	Deafness, autosomal dominant 9	601369	C1832425	OMIM	1	184	2180	603196
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COCH CL E G H	1690	601369	Deafness, autosomal dominant 9	601369	C1832425	OMIM	1	198	2180	603196
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL10A1 CL E G H	1300	156500	Metaphyseal chondrodysplasia, Schmid type	156500	C0265289	OMIM	1	213	2185	120110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL10A1 CL E G H	1300	156500	Metaphyseal chondrodysplasia, Schmid type	156500	C0265289	OMIM	1	260	2185	120110
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	1028	2186	120280
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	1339	2186	120280
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	604841	Stickler syndrome, type 2	604841	C1858084	OMIM	1	1028	2186	120280
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A1 CL E G H	1301	604841	Stickler syndrome, type 2	604841	C1858084	OMIM	1	1339	2186	120280
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	601868	Deafness, autosomal dominant 13	601868	C1866095	OMIM	1	705	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	601868	Deafness, autosomal dominant 13	601868	C1866095	OMIM	1	974	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	614524	Fibrochondrogenesis 2	614524	C3281128	OMIM	1	705	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	614524	Fibrochondrogenesis 2	614524	C3281128	OMIM	1	974	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	184840	Stickler syndrome, type 3	184840	C1861481	OMIM	1	705	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL11A2 CL E G H	1302	184840	Stickler syndrome, type 3	184840	C1861481	OMIM	1	974	2187	120290
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	392	2194	113811
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	406	2194	113811
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1397	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1655	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	114000	Infantile cortical hyperostosis	114000	C0020497	OMIM	1	1397	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	114000	Infantile cortical hyperostosis	114000	C0020497	OMIM	1	1655	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	1397	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166200	Osteogenesis imperfecta type I	166200	C0023931	OMIM	1	1655	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1397	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1655	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1397	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1655	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1397	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A1 CL E G H	1277	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1655	2197	120150
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1042	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	259420	Osteogenesis imperfecta type III	259420	C0268362	OMIM	1	1203	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1042	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	1203	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1042	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL1A2 CL E G H	1278	166210	Osteogenesis imperfecta, recessive perinatal lethal	166210	C0268360	OMIM	1	1203	2198	120160
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	200610	Achondrogenesis, type II	200610	C0220685	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	200610	Achondrogenesis, type II	200610	C0220685	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	608805	Avascular necrosis of the head of femur	608805	C0410480	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	608805	Avascular necrosis of the head of femur	608805	C0410480	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	150600	Coxa plana	150600	C0023234	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	150600	Coxa plana	150600	C0023234	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	609162	Czech dysplasia metatarsal type	609162	C1836683	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	156550	Kniest dysplasia	156550	C0265279	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	156550	Kniest dysplasia	156550	C0265279	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	604864	Osteoarthritis with mild chondrodysplasia	604864	C1858079	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	604864	Osteoarthritis with mild chondrodysplasia	604864	C1858079	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	151210	Platyspondylic lethal skeletal dysplasia Torrance type	151210	C1835437	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	151210	Platyspondylic lethal skeletal dysplasia Torrance type	151210	C1835437	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	616583	Spondyloepiphyseal dysplasia, stanescu type	616583	C4225273	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	616583	Spondyloepiphyseal dysplasia, stanescu type	616583	C4225273	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	184250	Spondylometaphyseal dysplasia	184250	C0700635	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	184250	Spondylometaphyseal dysplasia	184250	C0700635	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	609508	Stickler syndrome, type I, nonsyndromic ocular	609508	C1836080	OMIM	1	1213	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL2A1 CL E G H	1280	609508	Stickler syndrome, type I, nonsyndromic ocular	609508	C1836080	OMIM	1	1540	2200	120140
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL3A1 CL E G H	1281	130050	Ehlers-Danlos syndrome, type 4	130050	C0268338	OMIM	1	1935	2201	120180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL3A1 CL E G H	1281	130050	Ehlers-Danlos syndrome, type 4	130050	C0268338	OMIM	1	2083	2201	120180
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	837	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1010	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	607595	Brain small vessel disease with hemorrhage	607595	C1843512	OMIM	1	837	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	607595	Brain small vessel disease with hemorrhage	607595	C1843512	OMIM	1	1010	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	837	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1010	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	180000	Retinal arteries, tortuosity of	180000	C1867327	OMIM	1	837	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A1 CL E G H	1282	180000	Retinal arteries, tortuosity of	180000	C1867327	OMIM	1	1010	2202	120130
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	764	2203	120090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	857	2203	120090
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	104200	Alport syndrome, autosomal dominant	104200	C1567743	OMIM	1	1203	2204	120070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	104200	Alport syndrome, autosomal dominant	104200	C1567743	OMIM	1	1362	2204	120070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	141200	Benign familial hematuria	141200	C0241908	OMIM	1	1203	2204	120070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3 CL E G H	1285	141200	Benign familial hematuria	141200	C0241908	OMIM	1	1362	2204	120070
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A3BP CL E G H	10087	616351	Mental retardation, autosomal dominant 34	616351	C4225156	OMIM	1		2205	604677
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A4 CL E G H	1286	141200	Benign familial hematuria	141200	C0241908	OMIM	1	1386	2206	120131
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL4A4 CL E G H	1286	141200	Benign familial hematuria	141200	C0241908	OMIM	1	1532	2206	120131
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	2077	2209	120215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	2246	2209	120215
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1219	2211	120220
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1342	2211	120220
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1219	2211	120220
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1342	2211	120220
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1370	2212	120240
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1512	2212	120240
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1370	2212	120240
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1512	2212	120240
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1971	2213	120250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	2233	2213	120250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1971	2213	120250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2233	2213	120250
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	132000	Dominant dystrophic epidermolysis bullosa with absence of skin	132000	C0268371	OMIM	1	1658	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	132000	Dominant dystrophic epidermolysis bullosa with absence of skin	132000	C0268371	OMIM	1	2028	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	604129	Epidermolysis bullosa pruriginosa	604129	C1275114	OMIM	1	1658	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	604129	Epidermolysis bullosa pruriginosa	604129	C1275114	OMIM	1	2028	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131750	Generalized dominant dystrophic epidermolysis bullosa	131750	C0432322	OMIM	1	1658	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131750	Generalized dominant dystrophic epidermolysis bullosa	131750	C0432322	OMIM	1	2028	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	607523	Nail disorder, nonsyndromic congenital, 8	607523	C1843761	OMIM	1	1658	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	607523	Nail disorder, nonsyndromic congenital, 8	607523	C1843761	OMIM	1	2028	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131850	Pretibial epidermolysis bullosa	131850	C0432321	OMIM	1	1658	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131850	Pretibial epidermolysis bullosa	131850	C0432321	OMIM	1	2028	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131705	Transient bullous dermolysis of the newborn	131705	C1851573	OMIM	1	1658	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL7A1 CL E G H	1294	131705	Transient bullous dermolysis of the newborn	131705	C1851573	OMIM	1	2028	2214	120120
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	136800	Corneal dystrophy, Fuchs endothelial 1	136800	C1850959	OMIM	1	36	2216	120252
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	136800	Corneal dystrophy, Fuchs endothelial 1	136800	C1850959	OMIM	1	39	2216	120252
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	609140	Corneal dystrophy, posterior polymorphous, 2	609140	C1852795	OMIM	1	36	2216	120252
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL8A2 CL E G H	1296	609140	Corneal dystrophy, posterior polymorphous, 2	609140	C1852795	OMIM	1	39	2216	120252
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A1 CL E G H	1297	614135	Multiple epiphyseal dysplasia 6	614135	C2675767	OMIM	1	594	2217	120210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A1 CL E G H	1297	614135	Multiple epiphyseal dysplasia 6	614135	C2675767	OMIM	1	744	2217	120210
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A2 CL E G H	1298	600204	Multiple epiphyseal dysplasia 2	600204	C1838429	OMIM	1	336	2218	120260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A2 CL E G H	1298	600204	Multiple epiphyseal dysplasia 2	600204	C1838429	OMIM	1	479	2218	120260
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	464	2219	120270
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COL9A3 CL E G H	1299	600969	Multiple epiphyseal dysplasia 3	600969	C1832998	OMIM	1	703	2219	120270
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	132400	Multiple epiphyseal dysplasia 1	132400	C1838280	OMIM	1	287	2227	600310
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	132400	Multiple epiphyseal dysplasia 1	132400	C1838280	OMIM	1	375	2227	600310
HP:0000006	HP:0000006	Autosomal dominant inheritance	0	COMP CL E G H	1311	177170	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	177170	C0410538	OMIM