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:0003560	HP:0003560	Muscular dystrophy	0	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0003560	HP:0003560	Muscular dystrophy	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003560	HP:0003560	Muscular dystrophy	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	1162	27337	608662
HP:0003560	HP:0003560	Muscular dystrophy	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	587	28596	610194
HP:0003560	HP:0003560	Muscular dystrophy	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0003560	HP:0003560	Muscular dystrophy	0	B4GAT1 CL E G H	11041	899				ORPHA	1	205	15685	605517
HP:0003560	HP:0003560	Muscular dystrophy	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	205	15685	605517
HP:0003560	HP:0003560	Muscular dystrophy	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003560	HP:0003560	Muscular dystrophy	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1083	1148	602452
HP:0003560	HP:0003560	Muscular dystrophy	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1529	1149	602860
HP:0003560	HP:0003560	Muscular dystrophy	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	379	1151	603719
HP:0003560	HP:0003560	Muscular dystrophy	0	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003560	HP:0003560	Muscular dystrophy	0	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003560	HP:0003560	Muscular dystrophy	0	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1521	1480	114240
HP:0003560	HP:0003560	Muscular dystrophy	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0003560	HP:0003560	Muscular dystrophy	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003560	HP:0003560	Muscular dystrophy	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	402	30794	607951
HP:0003560	HP:0003560	Muscular dystrophy	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003560	HP:0003560	Muscular dystrophy	0	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0003560	HP:0003560	Muscular dystrophy	0	COL4A1 CL E G H	1282	899				ORPHA	1	1785	2202	120130
HP:0003560	HP:0003560	Muscular dystrophy	0	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0003560	HP:0003560	Muscular dystrophy	0	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0003560	HP:0003560	Muscular dystrophy	0	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0003560	HP:0003560	Muscular dystrophy	0	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	273	2389	123590
HP:0003560	HP:0003560	Muscular dystrophy	0	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	273	2389	123590
HP:0003560	HP:0003560	Muscular dystrophy	0	DAG1 CL E G H	1605	899				ORPHA	1	630	2666	128239
HP:0003560	HP:0003560	Muscular dystrophy	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	630	2666	128239
HP:0003560	HP:0003560	Muscular dystrophy	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0003560	HP:0003560	Muscular dystrophy	0	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	8184	2928	300377
HP:0003560	HP:0003560	Muscular dystrophy	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0003560	HP:0003560	Muscular dystrophy	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	487	14888	611332
HP:0003560	HP:0003560	Muscular dystrophy	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0003560	HP:0003560	Muscular dystrophy	0	DPM3 CL E G H	54344	263494				ORPHA	1	75	3007	605951
HP:0003560	HP:0003560	Muscular dystrophy	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	75	3007	605951
HP:0003560	HP:0003560	Muscular dystrophy	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003560	HP:0003560	Muscular dystrophy	0	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	3355	3097	603009
HP:0003560	HP:0003560	Muscular dystrophy	0	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003560	HP:0003560	Muscular dystrophy	0	FKRP CL E G H	79147	899				ORPHA	1	950	17997	606596
HP:0003560	HP:0003560	Muscular dystrophy	0	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	950	17997	606596
HP:0003560	HP:0003560	Muscular dystrophy	0	FKTN CL E G H	2218	899				ORPHA	1	914	3622	607440
HP:0003560	HP:0003560	Muscular dystrophy	0	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0003560	HP:0003560	Muscular dystrophy	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0003560	HP:0003560	Muscular dystrophy	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003560	HP:0003560	Muscular dystrophy	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003560	HP:0003560	Muscular dystrophy	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	364	22932	615320
HP:0003560	HP:0003560	Muscular dystrophy	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0003560	HP:0003560	Muscular dystrophy	0	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003560	HP:0003560	Muscular dystrophy	0	HNRNPA1 CL E G H	3178	615426	Amyotrophic lateral sclerosis 20	615426	C3715156	OMIM	1	80	5031	164017
HP:0003560	HP:0003560	Muscular dystrophy	0	HNRNPA2B1 CL E G H	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	615422	C3809468	OMIM	1	295	5033	600124
HP:0003560	HP:0003560	Muscular dystrophy	0	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003560	HP:0003560	Muscular dystrophy	0	ISPD CL E G H	729920	899				ORPHA	1	733	37276	614631
HP:0003560	HP:0003560	Muscular dystrophy	0	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0003560	HP:0003560	Muscular dystrophy	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0003560	HP:0003560	Muscular dystrophy	0	LARGE1 CL E G H	9215	899				ORPHA	1	786	6511	603590
HP:0003560	HP:0003560	Muscular dystrophy	0	LARGE1 CL E G H	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	613154	C3150414	OMIM	1	786	6511	603590
HP:0003560	HP:0003560	Muscular dystrophy	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003560	HP:0003560	Muscular dystrophy	0	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	305	16084	607908
HP:0003560	HP:0003560	Muscular dystrophy	0	LMNA CL E G H	4000	264				ORPHA	1	1814	6636	150330
HP:0003560	HP:0003560	Muscular dystrophy	0	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1814	6636	150330
HP:0003560	HP:0003560	Muscular dystrophy	0	NR0B1 CL E G H	190	300200	Congenital adrenal hypoplasia, X-linked	300200	C0342482	OMIM	1	373	7960	300473
HP:0003560	HP:0003560	Muscular dystrophy	0	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	1	694	8923	606879
HP:0003560	HP:0003560	Muscular dystrophy	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0003560	HP:0003560	Muscular dystrophy	0	PLEC CL E G H	5339	226670	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	226670	C2931072	OMIM	1	5068	9069	601282
HP:0003560	HP:0003560	Muscular dystrophy	0	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	5068	9069	601282
HP:0003560	HP:0003560	Muscular dystrophy	0	POMGNT1 CL E G H	55624	899				ORPHA	1	1174	19139	606822
HP:0003560	HP:0003560	Muscular dystrophy	0	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0003560	HP:0003560	Muscular dystrophy	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	1174	19139	606822
HP:0003560	HP:0003560	Muscular dystrophy	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0003560	HP:0003560	Muscular dystrophy	0	POMGNT2 CL E G H	84892	899				ORPHA	1	416	25902	614828
HP:0003560	HP:0003560	Muscular dystrophy	0	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0003560	HP:0003560	Muscular dystrophy	0	POMK CL E G H	84197	899				ORPHA	1	307	26267	615247
HP:0003560	HP:0003560	Muscular dystrophy	0	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0003560	HP:0003560	Muscular dystrophy	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT1 CL E G H	10585	86812				ORPHA	1	906	9202	607423
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT1 CL E G H	10585	899				ORPHA	1	906	9202	607423
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	906	9202	607423
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT2 CL E G H	29954	899				ORPHA	1	936	19743	607439
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003560	HP:0003560	Muscular dystrophy	0	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003560	HP:0003560	Muscular dystrophy	0	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	1	498	19129	610936
HP:0003560	HP:0003560	Muscular dystrophy	0	RXYLT1 CL E G H	10329	899				ORPHA	1	273	13530	605862
HP:0003560	HP:0003560	Muscular dystrophy	0	RXYLT1 CL E G H	10329	615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	615041	C3554381	OMIM	1	273	13530	605862
HP:0003560	HP:0003560	Muscular dystrophy	0	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003560	HP:0003560	Muscular dystrophy	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003560	HP:0003560	Muscular dystrophy	0	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0003560	HP:0003560	Muscular dystrophy	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	628	10805	600119
HP:0003560	HP:0003560	Muscular dystrophy	0	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	500	10806	600900
HP:0003560	HP:0003560	Muscular dystrophy	0	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	673	10807	601411
HP:0003560	HP:0003560	Muscular dystrophy	0	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	549	10809	608896
HP:0003560	HP:0003560	Muscular dystrophy	0	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003560	HP:0003560	Muscular dystrophy	0	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003560	HP:0003560	Muscular dystrophy	0	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003560	HP:0003560	Muscular dystrophy	0	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0003560	HP:0003560	Muscular dystrophy	0	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003560	HP:0003560	Muscular dystrophy	0	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0003560	HP:0003560	Muscular dystrophy	0	TOR1AIP1 CL E G H	26092	617072	Muscular dystrophy, limb-girdle, type 2y	617072	C4310731	OMIM	1	432	29456	614512
HP:0003560	HP:0003560	Muscular dystrophy	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	627	16380	602290
HP:0003560	HP:0003560	Muscular dystrophy	0	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	228	12307	604507
HP:0003560	HP:0003560	Muscular dystrophy	0	TRIP4 CL E G H	9325	617066	Muscular dystrophy, congenital, davignon-chauveau type	617066	C4310736	OMIM	1	212	12310	604501
HP:0003560	HP:0003560	Muscular dystrophy	0	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003560	HP:0003560	Muscular dystrophy	0	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	1162	27337	608662
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	1162	27337	608662
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	1162	27337	608662
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	1162	27337	608662
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	B3GALNT2 CL E G H	148789	899				ORPHA	1	587	28596	610194
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	B3GALNT2 CL E G H	148789	899				ORPHA	1	587	28596	610194
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	B3GALNT2 CL E G H	148789	899				ORPHA	1	587	28596	610194
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	B3GALNT2 CL E G H	148789	899				ORPHA	1	587	28596	610194
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	587	28596	610194
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	B4GAT1 CL E G H	11041	899				ORPHA	1	205	15685	605517
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	B4GAT1 CL E G H	11041	899				ORPHA	1	205	15685	605517
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	B4GAT1 CL E G H	11041	899				ORPHA	1	205	15685	605517
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	B4GAT1 CL E G H	11041	899				ORPHA	1	205	15685	605517
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	205	15685	605517
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	205	15685	605517
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	205	15685	605517
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	205	15685	605517
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1083	1148	602452
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1083	1148	602452
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1083	1148	602452
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1083	1148	602452
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1529	1149	602860
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1529	1149	602860
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1529	1149	602860
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1529	1149	602860
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	379	1151	603719
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	379	1151	603719
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	379	1151	603719
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	379	1151	603719
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	105	1152	604577
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1521	1480	114240
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1521	1480	114240
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1521	1480	114240
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1521	1480	114240
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	402	30794	607951
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	402	30794	607951
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	402	30794	607951
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	402	30794	607951
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	COL4A1 CL E G H	1282	899				ORPHA	1	1785	2202	120130
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	COL4A1 CL E G H	1282	899				ORPHA	1	1785	2202	120130
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	COL4A1 CL E G H	1282	899				ORPHA	1	1785	2202	120130
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	COL4A1 CL E G H	1282	899				ORPHA	1	1785	2202	120130
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	273	2389	123590
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	273	2389	123590
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	273	2389	123590
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	273	2389	123590
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	273	2389	123590
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	273	2389	123590
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	273	2389	123590
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	273	2389	123590
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DAG1 CL E G H	1605	899				ORPHA	1	630	2666	128239
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DAG1 CL E G H	1605	899				ORPHA	1	630	2666	128239
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DAG1 CL E G H	1605	899				ORPHA	1	630	2666	128239
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DAG1 CL E G H	1605	899				ORPHA	1	630	2666	128239
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	630	2666	128239
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	630	2666	128239
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	630	2666	128239
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	630	2666	128239
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	8184	2928	300377
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	8184	2928	300377
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	8184	2928	300377
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	8184	2928	300377
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	487	14888	611332
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	487	14888	611332
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	487	14888	611332
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	487	14888	611332
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DPM3 CL E G H	54344	263494				ORPHA	1	75	3007	605951
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DPM3 CL E G H	54344	263494				ORPHA	1	75	3007	605951
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DPM3 CL E G H	54344	263494				ORPHA	1	75	3007	605951
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DPM3 CL E G H	54344	263494				ORPHA	1	75	3007	605951
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	75	3007	605951
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	75	3007	605951
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	75	3007	605951
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	75	3007	605951
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	3355	3097	603009
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	3355	3097	603009
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	3355	3097	603009
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	3355	3097	603009
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	FKRP CL E G H	79147	899				ORPHA	1	950	17997	606596
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	FKRP CL E G H	79147	899				ORPHA	1	950	17997	606596
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	FKRP CL E G H	79147	899				ORPHA	1	950	17997	606596
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	FKRP CL E G H	79147	899				ORPHA	1	950	17997	606596
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	950	17997	606596
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	950	17997	606596
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	950	17997	606596
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	950	17997	606596
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	FKTN CL E G H	2218	899				ORPHA	1	914	3622	607440
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	FKTN CL E G H	2218	899				ORPHA	1	914	3622	607440
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	FKTN CL E G H	2218	899				ORPHA	1	914	3622	607440
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	FKTN CL E G H	2218	899				ORPHA	1	914	3622	607440
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	364	22932	615320
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	364	22932	615320
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	364	22932	615320
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	364	22932	615320
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	HNRNPA1 CL E G H	3178	615426	Amyotrophic lateral sclerosis 20	615426	C3715156	OMIM	1	80	5031	164017
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	HNRNPA1 CL E G H	3178	615426	Amyotrophic lateral sclerosis 20	615426	C3715156	OMIM	1	80	5031	164017
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	HNRNPA1 CL E G H	3178	615426	Amyotrophic lateral sclerosis 20	615426	C3715156	OMIM	1	80	5031	164017
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	HNRNPA1 CL E G H	3178	615426	Amyotrophic lateral sclerosis 20	615426	C3715156	OMIM	1	80	5031	164017
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	HNRNPA2B1 CL E G H	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	615422	C3809468	OMIM	1	295	5033	600124
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	HNRNPA2B1 CL E G H	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	615422	C3809468	OMIM	1	295	5033	600124
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	HNRNPA2B1 CL E G H	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	615422	C3809468	OMIM	1	295	5033	600124
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	HNRNPA2B1 CL E G H	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	615422	C3809468	OMIM	1	295	5033	600124
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	ISPD CL E G H	729920	899				ORPHA	1	733	37276	614631
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	ISPD CL E G H	729920	899				ORPHA	1	733	37276	614631
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	ISPD CL E G H	729920	899				ORPHA	1	733	37276	614631
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	ISPD CL E G H	729920	899				ORPHA	1	733	37276	614631
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LARGE1 CL E G H	9215	899				ORPHA	1	786	6511	603590
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LARGE1 CL E G H	9215	899				ORPHA	1	786	6511	603590
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LARGE1 CL E G H	9215	899				ORPHA	1	786	6511	603590
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LARGE1 CL E G H	9215	899				ORPHA	1	786	6511	603590
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LARGE1 CL E G H	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	613154	C3150414	OMIM	1	786	6511	603590
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LARGE1 CL E G H	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	613154	C3150414	OMIM	1	786	6511	603590
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LARGE1 CL E G H	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	613154	C3150414	OMIM	1	786	6511	603590
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LARGE1 CL E G H	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	613154	C3150414	OMIM	1	786	6511	603590
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	305	16084	607908
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	305	16084	607908
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	305	16084	607908
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	305	16084	607908
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LMNA CL E G H	4000	264				ORPHA	1	1814	6636	150330
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LMNA CL E G H	4000	264				ORPHA	1	1814	6636	150330
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LMNA CL E G H	4000	264				ORPHA	1	1814	6636	150330
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LMNA CL E G H	4000	264				ORPHA	1	1814	6636	150330
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1814	6636	150330
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1814	6636	150330
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1814	6636	150330
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1814	6636	150330
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	NR0B1 CL E G H	190	300200	Congenital adrenal hypoplasia, X-linked	300200	C0342482	OMIM	1	373	7960	300473
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	NR0B1 CL E G H	190	300200	Congenital adrenal hypoplasia, X-linked	300200	C0342482	OMIM	1	373	7960	300473
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	NR0B1 CL E G H	190	300200	Congenital adrenal hypoplasia, X-linked	300200	C0342482	OMIM	1	373	7960	300473
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	NR0B1 CL E G H	190	300200	Congenital adrenal hypoplasia, X-linked	300200	C0342482	OMIM	1	373	7960	300473
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	1	694	8923	606879
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	1	694	8923	606879
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	1	694	8923	606879
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	1	694	8923	606879
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	PLEC CL E G H	5339	226670	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	226670	C2931072	OMIM	1	5068	9069	601282
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	PLEC CL E G H	5339	226670	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	226670	C2931072	OMIM	1	5068	9069	601282
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	PLEC CL E G H	5339	226670	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	226670	C2931072	OMIM	1	5068	9069	601282
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	PLEC CL E G H	5339	226670	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	226670	C2931072	OMIM	1	5068	9069	601282
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	5068	9069	601282
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	5068	9069	601282
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	5068	9069	601282
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	5068	9069	601282
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMGNT1 CL E G H	55624	899				ORPHA	1	1174	19139	606822
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMGNT1 CL E G H	55624	899				ORPHA	1	1174	19139	606822
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMGNT1 CL E G H	55624	899				ORPHA	1	1174	19139	606822
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMGNT1 CL E G H	55624	899				ORPHA	1	1174	19139	606822
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	1174	19139	606822
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	1174	19139	606822
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	1174	19139	606822
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	1174	19139	606822
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMGNT2 CL E G H	84892	899				ORPHA	1	416	25902	614828
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMGNT2 CL E G H	84892	899				ORPHA	1	416	25902	614828
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMGNT2 CL E G H	84892	899				ORPHA	1	416	25902	614828
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMGNT2 CL E G H	84892	899				ORPHA	1	416	25902	614828
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMK CL E G H	84197	899				ORPHA	1	307	26267	615247
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMK CL E G H	84197	899				ORPHA	1	307	26267	615247
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMK CL E G H	84197	899				ORPHA	1	307	26267	615247
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMK CL E G H	84197	899				ORPHA	1	307	26267	615247
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT1 CL E G H	10585	86812				ORPHA	1	906	9202	607423
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT1 CL E G H	10585	899				ORPHA	1	906	9202	607423
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT1 CL E G H	10585	86812				ORPHA	1	906	9202	607423
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT1 CL E G H	10585	899				ORPHA	1	906	9202	607423
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT1 CL E G H	10585	86812				ORPHA	1	906	9202	607423
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT1 CL E G H	10585	899				ORPHA	1	906	9202	607423
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT1 CL E G H	10585	86812				ORPHA	1	906	9202	607423
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT1 CL E G H	10585	899				ORPHA	1	906	9202	607423
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	906	9202	607423
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	906	9202	607423
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	906	9202	607423
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	906	9202	607423
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT2 CL E G H	29954	899				ORPHA	1	936	19743	607439
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT2 CL E G H	29954	899				ORPHA	1	936	19743	607439
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT2 CL E G H	29954	899				ORPHA	1	936	19743	607439
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT2 CL E G H	29954	899				ORPHA	1	936	19743	607439
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	936	19743	607439
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	1	498	19129	610936
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	1	498	19129	610936
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	1	498	19129	610936
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	1	498	19129	610936
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	RXYLT1 CL E G H	10329	899				ORPHA	1	273	13530	605862
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	RXYLT1 CL E G H	10329	899				ORPHA	1	273	13530	605862
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	RXYLT1 CL E G H	10329	899				ORPHA	1	273	13530	605862
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	RXYLT1 CL E G H	10329	899				ORPHA	1	273	13530	605862
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	RXYLT1 CL E G H	10329	615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	615041	C3554381	OMIM	1	273	13530	605862
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	RXYLT1 CL E G H	10329	615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	615041	C3554381	OMIM	1	273	13530	605862
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	RXYLT1 CL E G H	10329	615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	615041	C3554381	OMIM	1	273	13530	605862
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	RXYLT1 CL E G H	10329	615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	615041	C3554381	OMIM	1	273	13530	605862
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	628	10805	600119
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	628	10805	600119
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	628	10805	600119
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	628	10805	600119
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	500	10806	600900
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	500	10806	600900
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	500	10806	600900
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	500	10806	600900
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	673	10807	601411
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	673	10807	601411
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	673	10807	601411
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	673	10807	601411
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	549	10809	608896
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	549	10809	608896
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	549	10809	608896
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	549	10809	608896
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	5789	17089	608441
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	3314	17084	608442
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	825	28472	612048
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TOR1AIP1 CL E G H	26092	617072	Muscular dystrophy, limb-girdle, type 2y	617072	C4310731	OMIM	1	432	29456	614512
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TOR1AIP1 CL E G H	26092	617072	Muscular dystrophy, limb-girdle, type 2y	617072	C4310731	OMIM	1	432	29456	614512
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TOR1AIP1 CL E G H	26092	617072	Muscular dystrophy, limb-girdle, type 2y	617072	C4310731	OMIM	1	432	29456	614512
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TOR1AIP1 CL E G H	26092	617072	Muscular dystrophy, limb-girdle, type 2y	617072	C4310731	OMIM	1	432	29456	614512
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	627	16380	602290
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	627	16380	602290
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	627	16380	602290
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	627	16380	602290
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	228	12307	604507
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	228	12307	604507
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	228	12307	604507
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	228	12307	604507
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TRIP4 CL E G H	9325	617066	Muscular dystrophy, congenital, davignon-chauveau type	617066	C4310736	OMIM	1	212	12310	604501
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TRIP4 CL E G H	9325	617066	Muscular dystrophy, congenital, davignon-chauveau type	617066	C4310736	OMIM	1	212	12310	604501
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TRIP4 CL E G H	9325	617066	Muscular dystrophy, congenital, davignon-chauveau type	617066	C4310736	OMIM	1	212	12310	604501
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TRIP4 CL E G H	9325	617066	Muscular dystrophy, congenital, davignon-chauveau type	617066	C4310736	OMIM	1	212	12310	604501
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003560	HP:0003560	Muscular dystrophy	0	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003560	HP:0003741	Congenital muscular dystrophy	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003560	HP:0006785	Limb-girdle muscular dystrophy	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003560	HP:0008970	Scapulohumeral muscular dystrophy	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750
HP:0003560	HP:0007081	Late-onset muscular dystrophy	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	0	144	6621	151750