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:0003198	HP:0003198	Myopathy	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0003198	Myopathy	0	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0003198	Myopathy	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0003198	Myopathy	0	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0003198	Myopathy	0	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0003198	Myopathy	0	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0003198	Myopathy	0	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0003198	Myopathy	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0003198	Myopathy	0	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0003198	Myopathy	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0003198	Myopathy	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0003198	Myopathy	0	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0003198	Myopathy	0	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0003198	Myopathy	0	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0003198	Myopathy	0	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0003198	Myopathy	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0003198	Myopathy	0	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0003198	Myopathy	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0003198	Myopathy	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0003198	Myopathy	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0003198	Myopathy	0	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0003198	Myopathy	0	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0003198	Myopathy	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0003198	Myopathy	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0003198	Myopathy	0	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0003198	Myopathy	0	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0003198	Myopathy	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0003198	Myopathy	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0003198	Myopathy	0	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0003198	Myopathy	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0003198	Myopathy	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0003198	Myopathy	0	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0003198	Myopathy	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0003198	Myopathy	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0003198	Myopathy	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0003198	Myopathy	0	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0003198	Myopathy	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0003198	Myopathy	0	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0003198	Myopathy	0	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0003198	Myopathy	0	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0003198	Myopathy	0	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0003198	Myopathy	0	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0003198	Myopathy	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0003198	Myopathy	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0003198	Myopathy	0	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0003198	Myopathy	0	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0003198	Myopathy	0	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0003198	Myopathy	0	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0003198	Myopathy	0	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0003198	Myopathy	0	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0003198	Myopathy	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0003198	Myopathy	0	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0003198	Myopathy	0	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0003198	Myopathy	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0003198	Myopathy	0	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0003198	Myopathy	0	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0003198	Myopathy	0	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0003198	Myopathy	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0003198	Myopathy	0	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0003198	Myopathy	0	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0003198	Myopathy	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0003198	Myopathy	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0003198	Myopathy	0	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0003198	Myopathy	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:0003198	HP:0003198	Myopathy	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0003198	Myopathy	0	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0003198	Myopathy	0	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0003198	Myopathy	0	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0003198	Myopathy	0	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0003198	Myopathy	0	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0003198	Myopathy	0	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0003198	Myopathy	0	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0003198	Myopathy	0	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0003198	Myopathy	0	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0003198	Myopathy	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0003198	Myopathy	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0003198	Myopathy	0	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0003198	Myopathy	0	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0003198	Myopathy	0	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0003198	Myopathy	0	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0003198	Myopathy	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0003198	Myopathy	0	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0003198	Myopathy	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0003198	Myopathy	0	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0003198	Myopathy	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0003198	Myopathy	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0003198	Myopathy	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0003198	Myopathy	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0003198	Myopathy	0	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0003198	Myopathy	0	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0003198	Myopathy	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0003198	Myopathy	0	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0003198	Myopathy	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0003198	Myopathy	0	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0003198	Myopathy	0	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0003198	Myopathy	0	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0003198	Myopathy	0	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0003198	Myopathy	0	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0003198	Myopathy	0	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0003198	Myopathy	0	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0003198	Myopathy	0	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0003198	Myopathy	0	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0003198	Myopathy	0	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0003198	Myopathy	0	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0003198	Myopathy	0	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0003198	Myopathy	0	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0003198	Myopathy	0	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0003198	Myopathy	0	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0003198	Myopathy	0	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0003198	Myopathy	0	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0003198	Myopathy	0	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0003198	Myopathy	0	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0003198	Myopathy	0	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0003198	Myopathy	0	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0003198	Myopathy	0	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0003198	Myopathy	0	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0003198	Myopathy	0	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0003198	Myopathy	0	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0003198	Myopathy	0	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0003198	Myopathy	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0003198	Myopathy	0	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0003198	Myopathy	0	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0003198	Myopathy	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0003198	Myopathy	0	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0003198	Myopathy	0	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0003198	Myopathy	0	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0003198	Myopathy	0	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0003198	Myopathy	0	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0003198	Myopathy	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0003198	Myopathy	0	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0003198	Myopathy	0	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0003198	Myopathy	0	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0003198	Myopathy	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0003198	Myopathy	0	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0003198	Myopathy	0	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0003198	Myopathy	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0003198	Myopathy	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0003198	Myopathy	0	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0003198	Myopathy	0	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0003198	Myopathy	0	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0003198	Myopathy	0	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0003198	Myopathy	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0003198	Myopathy	0	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0003198	Myopathy	0	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0003198	Myopathy	0	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0003198	Myopathy	0	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0003198	Myopathy	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0003198	Myopathy	0	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0003198	Myopathy	0	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0003198	Myopathy	0	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0003198	Myopathy	0	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0003198	Myopathy	0	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0003198	Myopathy	0	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0003198	Myopathy	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0003198	Myopathy	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0003198	Myopathy	0	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0003198	Myopathy	0	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0003198	Myopathy	0	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0003198	Myopathy	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0003198	Myopathy	0	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0003198	Myopathy	0	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0003198	Myopathy	0	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0003198	Myopathy	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0003198	Myopathy	0	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0003198	Myopathy	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0003198	Myopathy	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0003198	Myopathy	0	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0003198	Myopathy	0	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0003198	Myopathy	0	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0003198	Myopathy	0	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0003198	Myopathy	0	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0003198	Myopathy	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0003198	Myopathy	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0003198	Myopathy	0	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0003198	Myopathy	0	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0003198	Myopathy	0	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0003198	Myopathy	0	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0003198	Myopathy	0	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HP:0003198	HP:0003789	Minicore myopathy	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0003756	Skeletal myopathy	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0009071	Inflammatory myopathy	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0008978	Necrotizing myopathy	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0003789	Minicore myopathy	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0003756	Skeletal myopathy	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0009071	Inflammatory myopathy	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0008978	Necrotizing myopathy	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0003789	Minicore myopathy	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0003756	Skeletal myopathy	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0009071	Inflammatory myopathy	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0008978	Necrotizing myopathy	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0009071	Inflammatory myopathy	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0008978	Necrotizing myopathy	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0003789	Minicore myopathy	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0003756	Skeletal myopathy	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0003789	Minicore myopathy	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0003756	Skeletal myopathy	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0009071	Inflammatory myopathy	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0008978	Necrotizing myopathy	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0003789	Minicore myopathy	1	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0003756	Skeletal myopathy	1	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0009071	Inflammatory myopathy	1	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0008978	Necrotizing myopathy	1	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0003715	Myofibrillar myopathy	1	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0003789	Minicore myopathy	1	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0003756	Skeletal myopathy	1	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0009071	Inflammatory myopathy	1	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0008978	Necrotizing myopathy	1	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0003789	Minicore myopathy	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0003756	Skeletal myopathy	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0009071	Inflammatory myopathy	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0008978	Necrotizing myopathy	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0003715	Myofibrillar myopathy	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0003789	Minicore myopathy	1	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0003756	Skeletal myopathy	1	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0009071	Inflammatory myopathy	1	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0008978	Necrotizing myopathy	1	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0003715	Myofibrillar myopathy	1	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0003789	Minicore myopathy	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0003756	Skeletal myopathy	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0008978	Necrotizing myopathy	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0009071	Inflammatory myopathy	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0003715	Myofibrillar myopathy	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0003789	Minicore myopathy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0003756	Skeletal myopathy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0009071	Inflammatory myopathy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0008978	Necrotizing myopathy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0003715	Myofibrillar myopathy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0009071	Inflammatory myopathy	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0008978	Necrotizing myopathy	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0003789	Minicore myopathy	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0003756	Skeletal myopathy	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0008978	Necrotizing myopathy	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0009071	Inflammatory myopathy	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0003789	Minicore myopathy	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0003756	Skeletal myopathy	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0003756	Skeletal myopathy	1	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0003789	Minicore myopathy	1	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0008978	Necrotizing myopathy	1	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0009071	Inflammatory myopathy	1	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0003715	Myofibrillar myopathy	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0003789	Minicore myopathy	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0003756	Skeletal myopathy	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0009071	Inflammatory myopathy	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0008978	Necrotizing myopathy	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0003715	Myofibrillar myopathy	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0003789	Minicore myopathy	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0003756	Skeletal myopathy	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0009071	Inflammatory myopathy	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0008978	Necrotizing myopathy	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0003789	Minicore myopathy	1	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0003756	Skeletal myopathy	1	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0009071	Inflammatory myopathy	1	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0008978	Necrotizing myopathy	1	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0003756	Skeletal myopathy	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0003789	Minicore myopathy	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0008978	Necrotizing myopathy	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0009071	Inflammatory myopathy	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0003789	Minicore myopathy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0003756	Skeletal myopathy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0009071	Inflammatory myopathy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0008978	Necrotizing myopathy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0003789	Minicore myopathy	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0003756	Skeletal myopathy	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0009071	Inflammatory myopathy	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0008978	Necrotizing myopathy	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0003715	Myofibrillar myopathy	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0003789	Minicore myopathy	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0003756	Skeletal myopathy	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0009071	Inflammatory myopathy	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0008978	Necrotizing myopathy	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0008978	Necrotizing myopathy	1	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0003789	Minicore myopathy	1	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0003756	Skeletal myopathy	1	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0009071	Inflammatory myopathy	1	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0003789	Minicore myopathy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0003756	Skeletal myopathy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0009071	Inflammatory myopathy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0008978	Necrotizing myopathy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0003756	Skeletal myopathy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0003789	Minicore myopathy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0008978	Necrotizing myopathy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0009071	Inflammatory myopathy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0003789	Minicore myopathy	1	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0003756	Skeletal myopathy	1	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0009071	Inflammatory myopathy	1	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0008978	Necrotizing myopathy	1	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0003789	Minicore myopathy	1	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0003756	Skeletal myopathy	1	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0009071	Inflammatory myopathy	1	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0008978	Necrotizing myopathy	1	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0003789	Minicore myopathy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0003756	Skeletal myopathy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0009071	Inflammatory myopathy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0008978	Necrotizing myopathy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0003756	Skeletal myopathy	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0003789	Minicore myopathy	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0008978	Necrotizing myopathy	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0009071	Inflammatory myopathy	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0003789	Minicore myopathy	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0003756	Skeletal myopathy	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0009071	Inflammatory myopathy	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0008978	Necrotizing myopathy	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0003789	Minicore myopathy	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0003756	Skeletal myopathy	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0009071	Inflammatory myopathy	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0008978	Necrotizing myopathy	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0003789	Minicore myopathy	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0003756	Skeletal myopathy	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0009071	Inflammatory myopathy	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0008978	Necrotizing myopathy	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0003789	Minicore myopathy	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0003756	Skeletal myopathy	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0009071	Inflammatory myopathy	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0008978	Necrotizing myopathy	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0003715	Myofibrillar myopathy	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0003789	Minicore myopathy	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0003756	Skeletal myopathy	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0009071	Inflammatory myopathy	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0008978	Necrotizing myopathy	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0003715	Myofibrillar myopathy	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0003789	Minicore myopathy	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0003756	Skeletal myopathy	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0009071	Inflammatory myopathy	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0008978	Necrotizing myopathy	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0003715	Myofibrillar myopathy	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0003789	Minicore myopathy	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0003756	Skeletal myopathy	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0008978	Necrotizing myopathy	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0009071	Inflammatory myopathy	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0003715	Myofibrillar myopathy	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0009071	Inflammatory myopathy	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0008978	Necrotizing myopathy	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0003715	Myofibrillar myopathy	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0003789	Minicore myopathy	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0003756	Skeletal myopathy	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0003756	Skeletal myopathy	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0003789	Minicore myopathy	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0009071	Inflammatory myopathy	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0008978	Necrotizing myopathy	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0003715	Myofibrillar myopathy	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0008978	Necrotizing myopathy	1	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0009071	Inflammatory myopathy	1	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0008978	Necrotizing myopathy	1	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0009071	Inflammatory myopathy	1	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0003756	Skeletal myopathy	1	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0003789	Minicore myopathy	1	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0003756	Skeletal myopathy	1	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0003789	Minicore myopathy	1	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0009071	Inflammatory myopathy	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0008978	Necrotizing myopathy	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0003715	Myofibrillar myopathy	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0003789	Minicore myopathy	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0003756	Skeletal myopathy	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0009071	Inflammatory myopathy	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0008978	Necrotizing myopathy	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0003715	Myofibrillar myopathy	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0003789	Minicore myopathy	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0003756	Skeletal myopathy	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0003789	Minicore myopathy	1	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0003756	Skeletal myopathy	1	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0009071	Inflammatory myopathy	1	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0008978	Necrotizing myopathy	1	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0003715	Myofibrillar myopathy	1	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0003789	Minicore myopathy	1	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0003756	Skeletal myopathy	1	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0009071	Inflammatory myopathy	1	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0008978	Necrotizing myopathy	1	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0003715	Myofibrillar myopathy	1	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0003789	Minicore myopathy	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0003756	Skeletal myopathy	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0009071	Inflammatory myopathy	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0008978	Necrotizing myopathy	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0003715	Myofibrillar myopathy	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0003756	Skeletal myopathy	1	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0003789	Minicore myopathy	1	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0008978	Necrotizing myopathy	1	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0009071	Inflammatory myopathy	1	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0003789	Minicore myopathy	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0003756	Skeletal myopathy	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0009071	Inflammatory myopathy	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0008978	Necrotizing myopathy	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0009071	Inflammatory myopathy	1	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0008978	Necrotizing myopathy	1	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0003789	Minicore myopathy	1	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0003756	Skeletal myopathy	1	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0003789	Minicore myopathy	1	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0003756	Skeletal myopathy	1	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0009071	Inflammatory myopathy	1	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0008978	Necrotizing myopathy	1	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0003789	Minicore myopathy	1	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0003756	Skeletal myopathy	1	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0009071	Inflammatory myopathy	1	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0008978	Necrotizing myopathy	1	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0003789	Minicore myopathy	1	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0003756	Skeletal myopathy	1	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0009071	Inflammatory myopathy	1	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0008978	Necrotizing myopathy	1	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0003789	Minicore myopathy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0003756	Skeletal myopathy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0009071	Inflammatory myopathy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0008978	Necrotizing myopathy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0003789	Minicore myopathy	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0003756	Skeletal myopathy	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0008978	Necrotizing myopathy	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0009071	Inflammatory myopathy	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0003756	Skeletal myopathy	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0003789	Minicore myopathy	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0008978	Necrotizing myopathy	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0009071	Inflammatory myopathy	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0003789	Minicore myopathy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0003756	Skeletal myopathy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0009071	Inflammatory myopathy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0008978	Necrotizing myopathy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0003789	Minicore myopathy	1	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0003756	Skeletal myopathy	1	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0009071	Inflammatory myopathy	1	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0008978	Necrotizing myopathy	1	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0003789	Minicore myopathy	1	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0003756	Skeletal myopathy	1	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0009071	Inflammatory myopathy	1	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0008978	Necrotizing myopathy	1	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0008978	Necrotizing myopathy	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0009071	Inflammatory myopathy	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0003756	Skeletal myopathy	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0003789	Minicore myopathy	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0003789	Minicore myopathy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0003756	Skeletal myopathy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0009071	Inflammatory myopathy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0008978	Necrotizing myopathy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0009071	Inflammatory myopathy	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0008978	Necrotizing myopathy	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0003789	Minicore myopathy	1	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0003756	Skeletal myopathy	1	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0003789	Minicore myopathy	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0003756	Skeletal myopathy	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0009071	Inflammatory myopathy	1	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0008978	Necrotizing myopathy	1	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0003789	Minicore myopathy	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0003756	Skeletal myopathy	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0009071	Inflammatory myopathy	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0008978	Necrotizing myopathy	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0003715	Myofibrillar myopathy	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0003756	Skeletal myopathy	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0003789	Minicore myopathy	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0009071	Inflammatory myopathy	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0008978	Necrotizing myopathy	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0003715	Myofibrillar myopathy	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0003789	Minicore myopathy	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0003756	Skeletal myopathy	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0009071	Inflammatory myopathy	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0008978	Necrotizing myopathy	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0003715	Myofibrillar myopathy	1	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0003789	Minicore myopathy	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:0003198	HP:0003756	Skeletal myopathy	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:0003198	HP:0009071	Inflammatory myopathy	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:0003198	HP:0008978	Necrotizing myopathy	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:0003198	HP:0003458	EMG: myopathic abnormalities	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:0003198	HP:0003715	Myofibrillar myopathy	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:0003198	HP:0003789	Minicore myopathy	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0003756	Skeletal myopathy	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0009071	Inflammatory myopathy	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0008978	Necrotizing myopathy	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0003715	Myofibrillar myopathy	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0003715	Myofibrillar myopathy	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0003789	Minicore myopathy	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0003756	Skeletal myopathy	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0009071	Inflammatory myopathy	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0008978	Necrotizing myopathy	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0003715	Myofibrillar myopathy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0003789	Minicore myopathy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0003756	Skeletal myopathy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0009071	Inflammatory myopathy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0008978	Necrotizing myopathy	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0003789	Minicore myopathy	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0003756	Skeletal myopathy	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0009071	Inflammatory myopathy	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0008978	Necrotizing myopathy	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0003789	Minicore myopathy	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0003756	Skeletal myopathy	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0009071	Inflammatory myopathy	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0008978	Necrotizing myopathy	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0003789	Minicore myopathy	1	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0003756	Skeletal myopathy	1	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0009071	Inflammatory myopathy	1	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0008978	Necrotizing myopathy	1	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0003715	Myofibrillar myopathy	1	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0008978	Necrotizing myopathy	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0009071	Inflammatory myopathy	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0003756	Skeletal myopathy	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0003789	Minicore myopathy	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0003789	Minicore myopathy	1	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0003756	Skeletal myopathy	1	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0009071	Inflammatory myopathy	1	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0008978	Necrotizing myopathy	1	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0009071	Inflammatory myopathy	1	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0008978	Necrotizing myopathy	1	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0003789	Minicore myopathy	1	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0003756	Skeletal myopathy	1	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0003789	Minicore myopathy	1	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0003756	Skeletal myopathy	1	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0009071	Inflammatory myopathy	1	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0008978	Necrotizing myopathy	1	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0009071	Inflammatory myopathy	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0008978	Necrotizing myopathy	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0003789	Minicore myopathy	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0003756	Skeletal myopathy	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0003789	Minicore myopathy	1	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0003789	Minicore myopathy	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0003789	Minicore myopathy	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0003756	Skeletal myopathy	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0003789	Minicore myopathy	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0003756	Skeletal myopathy	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0003789	Minicore myopathy	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0003756	Skeletal myopathy	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0003789	Minicore myopathy	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0003756	Skeletal myopathy	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0003789	Minicore myopathy	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0003756	Skeletal myopathy	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0009071	Inflammatory myopathy	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0008978	Necrotizing myopathy	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0003789	Minicore myopathy	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0003756	Skeletal myopathy	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0008978	Necrotizing myopathy	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0009071	Inflammatory myopathy	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0003789	Minicore myopathy	1	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0003756	Skeletal myopathy	1	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0009071	Inflammatory myopathy	1	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0008978	Necrotizing myopathy	1	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0003789	Minicore myopathy	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0003756	Skeletal myopathy	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0009071	Inflammatory myopathy	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0008978	Necrotizing myopathy	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0003789	Minicore myopathy	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0003756	Skeletal myopathy	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0009071	Inflammatory myopathy	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0008978	Necrotizing myopathy	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0003756	Skeletal myopathy	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0003789	Minicore myopathy	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0008978	Necrotizing myopathy	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0009071	Inflammatory myopathy	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0003756	Skeletal myopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0003789	Minicore myopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0008978	Necrotizing myopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0009071	Inflammatory myopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0003789	Minicore myopathy	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0003756	Skeletal myopathy	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0009071	Inflammatory myopathy	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0008978	Necrotizing myopathy	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0003715	Myofibrillar myopathy	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0003756	Skeletal myopathy	1	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0003789	Minicore myopathy	1	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0008978	Necrotizing myopathy	1	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0009071	Inflammatory myopathy	1	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0003756	Skeletal myopathy	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0003789	Minicore myopathy	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0008978	Necrotizing myopathy	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0009071	Inflammatory myopathy	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0003789	Minicore myopathy	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0003756	Skeletal myopathy	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0009071	Inflammatory myopathy	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0008978	Necrotizing myopathy	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0003756	Skeletal myopathy	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0003789	Minicore myopathy	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0008978	Necrotizing myopathy	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0009071	Inflammatory myopathy	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0003789	Minicore myopathy	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0003756	Skeletal myopathy	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0009071	Inflammatory myopathy	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0008978	Necrotizing myopathy	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0008978	Necrotizing myopathy	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0009071	Inflammatory myopathy	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0003756	Skeletal myopathy	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0003789	Minicore myopathy	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0003789	Minicore myopathy	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0003756	Skeletal myopathy	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0009071	Inflammatory myopathy	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0008978	Necrotizing myopathy	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0008978	Necrotizing myopathy	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0009071	Inflammatory myopathy	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0003715	Myofibrillar myopathy	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0003789	Minicore myopathy	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0003756	Skeletal myopathy	1	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0003715	Myofibrillar myopathy	1	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0003789	Minicore myopathy	1	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0003756	Skeletal myopathy	1	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0009071	Inflammatory myopathy	1	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0008978	Necrotizing myopathy	1	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0003715	Myofibrillar myopathy	1	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0003756	Skeletal myopathy	1	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0003789	Minicore myopathy	1	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0008978	Necrotizing myopathy	1	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0009071	Inflammatory myopathy	1	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0003715	Myofibrillar myopathy	1	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0003789	Minicore myopathy	1	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0003756	Skeletal myopathy	1	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0009071	Inflammatory myopathy	1	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0008978	Necrotizing myopathy	1	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0003789	Minicore myopathy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0003756	Skeletal myopathy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0009071	Inflammatory myopathy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0008978	Necrotizing myopathy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0003789	Minicore myopathy	1	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0003756	Skeletal myopathy	1	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0009071	Inflammatory myopathy	1	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0008978	Necrotizing myopathy	1	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0003789	Minicore myopathy	1	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0003756	Skeletal myopathy	1	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0009071	Inflammatory myopathy	1	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0008978	Necrotizing myopathy	1	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0003789	Minicore myopathy	1	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0003756	Skeletal myopathy	1	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0009071	Inflammatory myopathy	1	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0008978	Necrotizing myopathy	1	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0003756	Skeletal myopathy	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0003789	Minicore myopathy	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0008978	Necrotizing myopathy	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0009071	Inflammatory myopathy	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0003789	Minicore myopathy	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0003756	Skeletal myopathy	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0009071	Inflammatory myopathy	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0008978	Necrotizing myopathy	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0003789	Minicore myopathy	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0003756	Skeletal myopathy	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0009071	Inflammatory myopathy	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0008978	Necrotizing myopathy	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0003756	Skeletal myopathy	1	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0003789	Minicore myopathy	1	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0009071	Inflammatory myopathy	1	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0008978	Necrotizing myopathy	1	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0003756	Skeletal myopathy	1	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0003789	Minicore myopathy	1	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0008978	Necrotizing myopathy	1	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0009071	Inflammatory myopathy	1	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0009071	Inflammatory myopathy	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0008978	Necrotizing myopathy	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0003789	Minicore myopathy	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0003756	Skeletal myopathy	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0003789	Minicore myopathy	1	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0003756	Skeletal myopathy	1	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0009071	Inflammatory myopathy	1	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0008978	Necrotizing myopathy	1	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0003756	Skeletal myopathy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0003789	Minicore myopathy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0008978	Necrotizing myopathy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0009071	Inflammatory myopathy	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0003789	Minicore myopathy	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0003756	Skeletal myopathy	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0009071	Inflammatory myopathy	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0008978	Necrotizing myopathy	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0003789	Minicore myopathy	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0003756	Skeletal myopathy	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0009071	Inflammatory myopathy	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0008978	Necrotizing myopathy	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0008978	Necrotizing myopathy	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0009071	Inflammatory myopathy	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0003756	Skeletal myopathy	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0003789	Minicore myopathy	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0003756	Skeletal myopathy	1	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0003789	Minicore myopathy	1	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0009071	Inflammatory myopathy	1	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0008978	Necrotizing myopathy	1	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0003789	Minicore myopathy	1	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0003756	Skeletal myopathy	1	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0009071	Inflammatory myopathy	1	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0008978	Necrotizing myopathy	1	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0003715	Myofibrillar myopathy	1	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0003789	Minicore myopathy	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0003756	Skeletal myopathy	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0009071	Inflammatory myopathy	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0008978	Necrotizing myopathy	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0003715	Myofibrillar myopathy	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0003789	Minicore myopathy	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0003756	Skeletal myopathy	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0008978	Necrotizing myopathy	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0009071	Inflammatory myopathy	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0003715	Myofibrillar myopathy	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0003789	Minicore myopathy	1	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0003756	Skeletal myopathy	1	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0009071	Inflammatory myopathy	1	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0008978	Necrotizing myopathy	1	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0009071	Inflammatory myopathy	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0009071	Inflammatory myopathy	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0008978	Necrotizing myopathy	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0008978	Necrotizing myopathy	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0003789	Minicore myopathy	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0003789	Minicore myopathy	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0003756	Skeletal myopathy	1	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0003756	Skeletal myopathy	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0003789	Minicore myopathy	1	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0003756	Skeletal myopathy	1	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0009071	Inflammatory myopathy	1	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0008978	Necrotizing myopathy	1	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0003789	Minicore myopathy	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0003756	Skeletal myopathy	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0008978	Necrotizing myopathy	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0009071	Inflammatory myopathy	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0009071	Inflammatory myopathy	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0008978	Necrotizing myopathy	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0009071	Inflammatory myopathy	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0008978	Necrotizing myopathy	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0003789	Minicore myopathy	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0003756	Skeletal myopathy	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0003789	Minicore myopathy	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0003756	Skeletal myopathy	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0003789	Minicore myopathy	1	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0003756	Skeletal myopathy	1	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0009071	Inflammatory myopathy	1	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0008978	Necrotizing myopathy	1	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0009071	Inflammatory myopathy	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0008978	Necrotizing myopathy	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0003789	Minicore myopathy	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0003756	Skeletal myopathy	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0003756	Skeletal myopathy	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0003789	Minicore myopathy	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0008978	Necrotizing myopathy	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0009071	Inflammatory myopathy	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0003756	Skeletal myopathy	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0003789	Minicore myopathy	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0008978	Necrotizing myopathy	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0009071	Inflammatory myopathy	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0003715	Myofibrillar myopathy	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0003789	Minicore myopathy	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0003756	Skeletal myopathy	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0009071	Inflammatory myopathy	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0008978	Necrotizing myopathy	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0003715	Myofibrillar myopathy	1	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0003789	Minicore myopathy	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0003756	Skeletal myopathy	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0009071	Inflammatory myopathy	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0008978	Necrotizing myopathy	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0003715	Myofibrillar myopathy	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0003715	Myofibrillar myopathy	1	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0003789	Minicore myopathy	1	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0003756	Skeletal myopathy	1	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0009071	Inflammatory myopathy	1	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0008978	Necrotizing myopathy	1	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0003789	Minicore myopathy	1	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0003756	Skeletal myopathy	1	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0009071	Inflammatory myopathy	1	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0008978	Necrotizing myopathy	1	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0003715	Myofibrillar myopathy	1	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0003789	Minicore myopathy	1	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0003756	Skeletal myopathy	1	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0009071	Inflammatory myopathy	1	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0008978	Necrotizing myopathy	1	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0003715	Myofibrillar myopathy	1	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0003715	Myofibrillar myopathy	1	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0003789	Minicore myopathy	1	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0003756	Skeletal myopathy	1	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0009071	Inflammatory myopathy	1	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0008978	Necrotizing myopathy	1	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HP:0003198	HP:0003756	Skeletal myopathy	1	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HP:0003198	HP:0003789	Minicore myopathy	1	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HP:0003198	HP:0008978	Necrotizing myopathy	1	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HP:0003198	HP:0009071	Inflammatory myopathy	1	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	153	13841	612243
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	AGK CL E G H	55750	1369				ORPHA	1	347	21869	610345
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	2263	321	610860
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	934	438	171760
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	B3GALNT2 CL E G H	148789	588				ORPHA	1	587	28596	610194
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	B4GALT1 CL E G H	2683	79332				ORPHA	1	184	924	137060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1521	1480	114240
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CASQ1 CL E G H	844	88635				ORPHA	1	249	1512	114250
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CPT2 CL E G H	1376	228302				ORPHA	1	876	2330	600650
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	3355	3097	603009
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	695	3331	300384
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	586	3702	300163
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	220	18625	614505
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FKRP CL E G H	79147	588				ORPHA	1	950	17997	606596
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FKTN CL E G H	2218	588				ORPHA	1	914	3622	607440
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	914	3622	607440
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	4208	3756	102565
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GCLC CL E G H	2729	230450	Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	230450	C1856603	OMIM	1	128	4311	606857
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	200	4236	600924
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GMPPB CL E G H	29925	588				ORPHA	1	364	22932	615320
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	80	5031	164017
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	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:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LARGE1 CL E G H	9215	588				ORPHA	1	786	6511	603590
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LMNA CL E G H	4000	157973				ORPHA	1	1814	6636	150330
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LMNB2 CL E G H	84823	79087				ORPHA	1	548	6638	150341
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-RNR1 CL E G H	4549	551				ORPHA	1	1	7470	180450
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TT CL E G H	4576	551000	Lethal infantile mitochondrial myopathy	551000	C1838876	OMIM	1		7499	590090
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	372	12399	604103
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	POMGNT1 CL E G H	55624	588				ORPHA	1	1174	19139	606822
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	POMT1 CL E G H	10585	588				ORPHA	1	906	9202	607423
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	POMT2 CL E G H	29954	588				ORPHA	1	936	19743	607439
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PRKAG2 CL E G H	51422	261740	Glycogen storage disease of heart, lethal congenital	261740	C1849813	OMIM	1	1079	9386	602743
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	478	15508	608109
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PYGM CL E G H	5837	368				ORPHA	1	1055	9726	608455
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SCN4A CL E G H	6329	613345	Hypokalemic periodic paralysis, type 2	613345	C2750061	OMIM	1	1765	10591	603967
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	176	10989	600370
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SLC25A4 CL E G H	291	1369				ORPHA	1	333	10990	103220
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	635	11386	605921
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	635	11386	605921
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TIA1 CL E G H	7072	603				ORPHA	1	250	11802	603518
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	627	16380	602290
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	XDH CL E G H	7498	278300	Deficiency of xanthine oxidase	278300	C0268118	OMIM	1	691	12805	607633
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	218	12811	314850
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	YARS2 CL E G H	51067	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	274	24249	610957
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ZBTB20 CL E G H	26137	3042				ORPHA	1	252	13503	606025
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003198	HP:0003198	Myopathy	0	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0003198	Myopathy	0	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0003198	Myopathy	0	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0003198	Myopathy	0	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0003198	Myopathy	0	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0003198	Myopathy	0	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0003198	Myopathy	0	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0003198	Myopathy	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0003198	Myopathy	0	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0003198	Myopathy	0	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0003198	Myopathy	0	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0003198	Myopathy	0	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0003198	Myopathy	0	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0003198	Myopathy	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0003198	Myopathy	0	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0003198	Myopathy	0	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0003198	Myopathy	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0003198	Myopathy	0	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0003198	Myopathy	0	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0003198	Myopathy	0	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0003198	Myopathy	0	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0003198	Myopathy	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0003198	Myopathy	0	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0003198	Myopathy	0	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0003198	Myopathy	0	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0003198	Myopathy	0	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0003198	Myopathy	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0003198	Myopathy	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0003198	Myopathy	0	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0003198	Myopathy	0	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0003198	Myopathy	0	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0003198	Myopathy	0	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0003198	Myopathy	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0003198	Myopathy	0	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003198	Myopathy	0	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003198	Myopathy	0	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0003198	Myopathy	0	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0003198	Myopathy	0	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0003198	Myopathy	0	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0003198	Myopathy	0	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0003198	Myopathy	0	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0003198	Myopathy	0	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0003198	Myopathy	0	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0003198	Myopathy	0	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0003198	Myopathy	0	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0003198	Myopathy	0	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0003198	Myopathy	0	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0003198	Myopathy	0	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0003198	Myopathy	0	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0003198	Myopathy	0	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0003198	Myopathy	0	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0003198	Myopathy	0	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0003198	Myopathy	0	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0003198	Myopathy	0	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0003198	Myopathy	0	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0003198	Myopathy	0	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0003198	Myopathy	0	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0003198	Myopathy	0	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0003198	Myopathy	0	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0003198	Myopathy	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0003198	Myopathy	0	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0003198	Myopathy	0	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0003198	Myopathy	0	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0003198	Myopathy	0	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0003198	Myopathy	0	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0003198	Myopathy	0	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0003198	Myopathy	0	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0003198	Myopathy	0	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0003198	Myopathy	0	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0003198	Myopathy	0	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0003198	Myopathy	0	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0003198	Myopathy	0	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0003198	Myopathy	0	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0003198	Myopathy	0	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0003198	Myopathy	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0003198	Myopathy	0	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003198	Myopathy	0	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003198	Myopathy	0	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0003198	Myopathy	0	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0003198	Myopathy	0	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0003198	Myopathy	0	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0003198	Myopathy	0	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0003198	Myopathy	0	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0003198	Myopathy	0	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0003198	Myopathy	0	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0003198	Myopathy	0	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0003198	Myopathy	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0003198	Myopathy	0	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0003198	Myopathy	0	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0003198	Myopathy	0	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0003198	Myopathy	0	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0003198	Myopathy	0	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0003198	Myopathy	0	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0003198	Myopathy	0	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0003198	Myopathy	0	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0003198	Myopathy	0	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0003198	Myopathy	0	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0003198	Myopathy	0	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0003198	Myopathy	0	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0003198	HP:0003756	Skeletal myopathy	1	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0003789	Minicore myopathy	1	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0008978	Necrotizing myopathy	1	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0009071	Inflammatory myopathy	1	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0009071	Inflammatory myopathy	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0008978	Necrotizing myopathy	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0003789	Minicore myopathy	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0003756	Skeletal myopathy	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0003789	Minicore myopathy	1	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0003756	Skeletal myopathy	1	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0009071	Inflammatory myopathy	1	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0008978	Necrotizing myopathy	1	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0003756	Skeletal myopathy	1	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0003789	Minicore myopathy	1	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0009071	Inflammatory myopathy	1	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0008978	Necrotizing myopathy	1	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0003789	Minicore myopathy	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0003756	Skeletal myopathy	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0009071	Inflammatory myopathy	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0008978	Necrotizing myopathy	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0003789	Minicore myopathy	1	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0003756	Skeletal myopathy	1	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0009071	Inflammatory myopathy	1	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0008978	Necrotizing myopathy	1	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0003789	Minicore myopathy	1	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0003756	Skeletal myopathy	1	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0009071	Inflammatory myopathy	1	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0008978	Necrotizing myopathy	1	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0003715	Myofibrillar myopathy	1	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0003715	Myofibrillar myopathy	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0003789	Minicore myopathy	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0003756	Skeletal myopathy	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0009071	Inflammatory myopathy	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0008978	Necrotizing myopathy	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0009071	Inflammatory myopathy	1	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0008978	Necrotizing myopathy	1	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0003715	Myofibrillar myopathy	1	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0003789	Minicore myopathy	1	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0003756	Skeletal myopathy	1	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0003789	Minicore myopathy	1	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0003756	Skeletal myopathy	1	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0009071	Inflammatory myopathy	1	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0008978	Necrotizing myopathy	1	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0009071	Inflammatory myopathy	1	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0008978	Necrotizing myopathy	1	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0003789	Minicore myopathy	1	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0003756	Skeletal myopathy	1	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0008978	Necrotizing myopathy	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0009071	Inflammatory myopathy	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0003756	Skeletal myopathy	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0003789	Minicore myopathy	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0003789	Minicore myopathy	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0003756	Skeletal myopathy	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0009071	Inflammatory myopathy	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0008978	Necrotizing myopathy	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0003756	Skeletal myopathy	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0003789	Minicore myopathy	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0008978	Necrotizing myopathy	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0009071	Inflammatory myopathy	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0003789	Minicore myopathy	1	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0003756	Skeletal myopathy	1	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0009071	Inflammatory myopathy	1	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0008978	Necrotizing myopathy	1	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0003789	Minicore myopathy	1	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0003756	Skeletal myopathy	1	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0009071	Inflammatory myopathy	1	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0008978	Necrotizing myopathy	1	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0003789	Minicore myopathy	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0003756	Skeletal myopathy	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0009071	Inflammatory myopathy	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0008978	Necrotizing myopathy	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0003715	Myofibrillar myopathy	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0003756	Skeletal myopathy	1	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0003789	Minicore myopathy	1	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0008978	Necrotizing myopathy	1	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0009071	Inflammatory myopathy	1	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0003715	Myofibrillar myopathy	1	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0003789	Minicore myopathy	1	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0003756	Skeletal myopathy	1	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0009071	Inflammatory myopathy	1	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0008978	Necrotizing myopathy	1	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0003715	Myofibrillar myopathy	1	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0003756	Skeletal myopathy	1	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0003789	Minicore myopathy	1	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0008978	Necrotizing myopathy	1	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0009071	Inflammatory myopathy	1	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0003715	Myofibrillar myopathy	1	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0003789	Minicore myopathy	1	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0003756	Skeletal myopathy	1	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0009071	Inflammatory myopathy	1	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0008978	Necrotizing myopathy	1	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0003715	Myofibrillar myopathy	1	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0003715	Myofibrillar myopathy	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0003789	Minicore myopathy	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0003756	Skeletal myopathy	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0009071	Inflammatory myopathy	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0008978	Necrotizing myopathy	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0003789	Minicore myopathy	1	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0003756	Skeletal myopathy	1	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0009071	Inflammatory myopathy	1	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0008978	Necrotizing myopathy	1	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0003789	Minicore myopathy	1	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0003756	Skeletal myopathy	1	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0009071	Inflammatory myopathy	1	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0008978	Necrotizing myopathy	1	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0003715	Myofibrillar myopathy	1	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0003789	Minicore myopathy	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0003756	Skeletal myopathy	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0009071	Inflammatory myopathy	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0008978	Necrotizing myopathy	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0003789	Minicore myopathy	1	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0003756	Skeletal myopathy	1	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0009071	Inflammatory myopathy	1	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0008978	Necrotizing myopathy	1	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0003756	Skeletal myopathy	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0003789	Minicore myopathy	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0009071	Inflammatory myopathy	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0008978	Necrotizing myopathy	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0003715	Myofibrillar myopathy	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0003789	Minicore myopathy	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0003756	Skeletal myopathy	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0009071	Inflammatory myopathy	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0008978	Necrotizing myopathy	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0003715	Myofibrillar myopathy	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0003789	Minicore myopathy	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0003756	Skeletal myopathy	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0009071	Inflammatory myopathy	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0008978	Necrotizing myopathy	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0009071	Inflammatory myopathy	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0008978	Necrotizing myopathy	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0003715	Myofibrillar myopathy	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0003789	Minicore myopathy	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0003756	Skeletal myopathy	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0003756	Skeletal myopathy	1	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0003789	Minicore myopathy	1	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0008978	Necrotizing myopathy	1	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0009071	Inflammatory myopathy	1	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0003789	Minicore myopathy	1	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0003756	Skeletal myopathy	1	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0009071	Inflammatory myopathy	1	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0008978	Necrotizing myopathy	1	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0003789	Minicore myopathy	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0003756	Skeletal myopathy	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0009071	Inflammatory myopathy	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0008978	Necrotizing myopathy	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0008978	Necrotizing myopathy	1	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0009071	Inflammatory myopathy	1	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003789	Minicore myopathy	1	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003756	Skeletal myopathy	1	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003756	Skeletal myopathy	1	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003789	Minicore myopathy	1	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0009071	Inflammatory myopathy	1	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0008978	Necrotizing myopathy	1	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003789	Minicore myopathy	1	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0003756	Skeletal myopathy	1	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0009071	Inflammatory myopathy	1	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0008978	Necrotizing myopathy	1	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0008978	Necrotizing myopathy	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0009071	Inflammatory myopathy	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0003715	Myofibrillar myopathy	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0003756	Skeletal myopathy	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0003789	Minicore myopathy	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0003789	Minicore myopathy	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0003789	Minicore myopathy	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0003756	Skeletal myopathy	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0009071	Inflammatory myopathy	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0008978	Necrotizing myopathy	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0003789	Minicore myopathy	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0003756	Skeletal myopathy	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0009071	Inflammatory myopathy	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0008978	Necrotizing myopathy	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0003756	Skeletal myopathy	1	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0003789	Minicore myopathy	1	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0003789	Minicore myopathy	1	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0003756	Skeletal myopathy	1	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0003789	Minicore myopathy	1	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0003756	Skeletal myopathy	1	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0003756	Skeletal myopathy	1	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0003789	Minicore myopathy	1	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0003789	Minicore myopathy	1	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0003756	Skeletal myopathy	1	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0009071	Inflammatory myopathy	1	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0008978	Necrotizing myopathy	1	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0003715	Myofibrillar myopathy	1	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0003789	Minicore myopathy	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0003756	Skeletal myopathy	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0009071	Inflammatory myopathy	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0008978	Necrotizing myopathy	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0009071	Inflammatory myopathy	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0008978	Necrotizing myopathy	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0003789	Minicore myopathy	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0003756	Skeletal myopathy	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0003789	Minicore myopathy	1	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0003756	Skeletal myopathy	1	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0009071	Inflammatory myopathy	1	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0008978	Necrotizing myopathy	1	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0003756	Skeletal myopathy	1	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0003789	Minicore myopathy	1	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0008978	Necrotizing myopathy	1	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0009071	Inflammatory myopathy	1	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0003715	Myofibrillar myopathy	1	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0009071	Inflammatory myopathy	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0008978	Necrotizing myopathy	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0003789	Minicore myopathy	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0003756	Skeletal myopathy	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0009071	Inflammatory myopathy	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0008978	Necrotizing myopathy	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0003789	Minicore myopathy	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0003756	Skeletal myopathy	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0003789	Minicore myopathy	1	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0003756	Skeletal myopathy	1	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0009071	Inflammatory myopathy	1	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0008978	Necrotizing myopathy	1	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0003789	Minicore myopathy	1	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0003756	Skeletal myopathy	1	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0009071	Inflammatory myopathy	1	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0008978	Necrotizing myopathy	1	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0003715	Myofibrillar myopathy	1	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0003756	Skeletal myopathy	1	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0003789	Minicore myopathy	1	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0008978	Necrotizing myopathy	1	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0009071	Inflammatory myopathy	1	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0003789	Minicore myopathy	1	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0003756	Skeletal myopathy	1	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0009071	Inflammatory myopathy	1	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0008978	Necrotizing myopathy	1	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0003756	Skeletal myopathy	1	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0003789	Minicore myopathy	1	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0008978	Necrotizing myopathy	1	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0009071	Inflammatory myopathy	1	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0003789	Minicore myopathy	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0003756	Skeletal myopathy	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0009071	Inflammatory myopathy	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0008978	Necrotizing myopathy	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0003789	Minicore myopathy	1	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0003756	Skeletal myopathy	1	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0009071	Inflammatory myopathy	1	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0008978	Necrotizing myopathy	1	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0008978	Necrotizing myopathy	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0009071	Inflammatory myopathy	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0003789	Minicore myopathy	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0003756	Skeletal myopathy	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0009071	Inflammatory myopathy	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0008978	Necrotizing myopathy	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0003789	Minicore myopathy	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0003756	Skeletal myopathy	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0003789	Minicore myopathy	1	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0003756	Skeletal myopathy	1	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0009071	Inflammatory myopathy	1	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0008978	Necrotizing myopathy	1	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0003789	Minicore myopathy	1	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0003756	Skeletal myopathy	1	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0009071	Inflammatory myopathy	1	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0008978	Necrotizing myopathy	1	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0003789	Minicore myopathy	1	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0003756	Skeletal myopathy	1	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0009071	Inflammatory myopathy	1	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0008978	Necrotizing myopathy	1	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0003715	Myofibrillar myopathy	1	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0003789	Minicore myopathy	1	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0003756	Skeletal myopathy	1	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0009071	Inflammatory myopathy	1	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0008978	Necrotizing myopathy	1	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0003789	Minicore myopathy	1	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0003756	Skeletal myopathy	1	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0008978	Necrotizing myopathy	1	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0009071	Inflammatory myopathy	1	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0003789	Minicore myopathy	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0003756	Skeletal myopathy	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0009071	Inflammatory myopathy	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0008978	Necrotizing myopathy	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0003715	Myofibrillar myopathy	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0003789	Minicore myopathy	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0003756	Skeletal myopathy	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0009071	Inflammatory myopathy	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0008978	Necrotizing myopathy	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0009071	Inflammatory myopathy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0008978	Necrotizing myopathy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003789	Minicore myopathy	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003756	Skeletal myopathy	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003789	Minicore myopathy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003756	Skeletal myopathy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0009071	Inflammatory myopathy	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0008978	Necrotizing myopathy	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003789	Minicore myopathy	1	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0003756	Skeletal myopathy	1	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0009071	Inflammatory myopathy	1	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0008978	Necrotizing myopathy	1	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0003789	Minicore myopathy	1	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0003756	Skeletal myopathy	1	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0009071	Inflammatory myopathy	1	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0008978	Necrotizing myopathy	1	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0003756	Skeletal myopathy	1	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0003789	Minicore myopathy	1	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0008978	Necrotizing myopathy	1	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0009071	Inflammatory myopathy	1	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0009071	Inflammatory myopathy	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0008978	Necrotizing myopathy	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0003789	Minicore myopathy	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0003756	Skeletal myopathy	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0003789	Minicore myopathy	1	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0003756	Skeletal myopathy	1	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0009071	Inflammatory myopathy	1	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0008978	Necrotizing myopathy	1	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0003715	Myofibrillar myopathy	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0003756	Skeletal myopathy	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0003789	Minicore myopathy	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0008978	Necrotizing myopathy	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0009071	Inflammatory myopathy	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0003789	Minicore myopathy	1	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0003756	Skeletal myopathy	1	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0009071	Inflammatory myopathy	1	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0008978	Necrotizing myopathy	1	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0003789	Minicore myopathy	1	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0003756	Skeletal myopathy	1	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0009071	Inflammatory myopathy	1	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0008978	Necrotizing myopathy	1	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0003756	Skeletal myopathy	1	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0003789	Minicore myopathy	1	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0009071	Inflammatory myopathy	1	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0008978	Necrotizing myopathy	1	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0003789	Minicore myopathy	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0003756	Skeletal myopathy	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0009071	Inflammatory myopathy	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0008978	Necrotizing myopathy	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0003789	Minicore myopathy	1	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0003756	Skeletal myopathy	1	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0009071	Inflammatory myopathy	1	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0008978	Necrotizing myopathy	1	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0003789	Minicore myopathy	1	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0003756	Skeletal myopathy	1	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0008978	Necrotizing myopathy	1	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0009071	Inflammatory myopathy	1	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0003789	Minicore myopathy	1	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0003756	Skeletal myopathy	1	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0009071	Inflammatory myopathy	1	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0008978	Necrotizing myopathy	1	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0003756	Skeletal myopathy	1	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0003789	Minicore myopathy	1	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0008978	Necrotizing myopathy	1	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0009071	Inflammatory myopathy	1	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0003789	Minicore myopathy	1	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0003756	Skeletal myopathy	1	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0009071	Inflammatory myopathy	1	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0008978	Necrotizing myopathy	1	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0003789	Minicore myopathy	1	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0003756	Skeletal myopathy	1	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0009071	Inflammatory myopathy	1	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0008978	Necrotizing myopathy	1	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0009071	Inflammatory myopathy	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0008978	Necrotizing myopathy	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0003789	Minicore myopathy	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0003756	Skeletal myopathy	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0003789	Minicore myopathy	1	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0003756	Skeletal myopathy	1	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0009071	Inflammatory myopathy	1	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0008978	Necrotizing myopathy	1	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0003789	Minicore myopathy	1	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0003756	Skeletal myopathy	1	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0009071	Inflammatory myopathy	1	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0008978	Necrotizing myopathy	1	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0003715	Myofibrillar myopathy	1	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0009071	Inflammatory myopathy	1	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0008978	Necrotizing myopathy	1	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0003715	Myofibrillar myopathy	1	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0003789	Minicore myopathy	1	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0003756	Skeletal myopathy	1	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0003789	Minicore myopathy	1	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0003756	Skeletal myopathy	1	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0008978	Necrotizing myopathy	1	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0009071	Inflammatory myopathy	1	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0003715	Myofibrillar myopathy	1	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0003458	EMG: myopathic abnormalities	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0003198	HP:0003715	Myofibrillar myopathy	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0003198	HP:0003756	Skeletal myopathy	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0003198	HP:0003789	Minicore myopathy	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0003198	HP:0009071	Inflammatory myopathy	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0003198	HP:0008978	Necrotizing myopathy	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ABCC9 CL E G H	10060	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1507	60	601439
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ACTC1 CL E G H	70	154	Sandhaus Ben-Ami syndrome			ORPHA	0	672	143	102540
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ACTN2 CL E G H	88	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1361	164	102573
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	0	504	414	103850
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ANKRD1 CL E G H	27063	154	Sandhaus Ben-Ami syndrome			ORPHA	0	442	15819	609599
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	BAG3 CL E G H	9531	154	Sandhaus Ben-Ami syndrome			ORPHA	0	986	939	603883
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1886	1397	114208
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CDH23 CL E G H	64072	96253				ORPHA	0	4522	13733	605516
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CRYAB CL E G H	1410	154	Sandhaus Ben-Ami syndrome			ORPHA	0	273	2389	123590
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CSRP3 CL E G H	8048	154	Sandhaus Ben-Ami syndrome			ORPHA	0	407	2472	600824
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	0	778	2518	606272
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	DES CL E G H	1674	154	Sandhaus Ben-Ami syndrome			ORPHA	0	976	2770	125660
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	DMD CL E G H	1756	154	Sandhaus Ben-Ami syndrome			ORPHA	0	8184	2928	300377
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	DOLK CL E G H	22845	154	Sandhaus Ben-Ami syndrome			ORPHA	0	521	23406	610746
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	DSG2 CL E G H	1829	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1570	3049	125671
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FHL2 CL E G H	2274	154	Sandhaus Ben-Ami syndrome			ORPHA	0	200	3703	602633
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	FKTN CL E G H	2218	154	Sandhaus Ben-Ami syndrome			ORPHA	0	914	3622	607440
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GATAD1 CL E G H	57798	154	Sandhaus Ben-Ami syndrome			ORPHA	0	618	29941	614518
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LAMA4 CL E G H	3910	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1613	6484	600133
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LDB3 CL E G H	11155	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1226	15710	605906
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LMNA CL E G H	4000	2348				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LMNA CL E G H	4000	280365				ORPHA	0	1814	6636	150330
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LMNA CL E G H	4000	610140	Heart-hand syndrome, Slovenian type	610140	C1857829	OMIM	0	1814	6636	150330
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	0	251	7413	156540
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYBPC3 CL E G H	4607	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3317	7551	600958
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYH6 CL E G H	4624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2116	7576	160710
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYH7 CL E G H	4625	154	Sandhaus Ben-Ami syndrome			ORPHA	0	4106	7577	160760
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYMK CL E G H	389827	1358				ORPHA	0	86	33778	615345
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	MYPN CL E G H	84665	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1485	23246	608517
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NEBL CL E G H	10529	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1016	16932	605491
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	NEXN CL E G H	91624	154	Sandhaus Ben-Ami syndrome			ORPHA	0	669	29557	613121
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	203	8773	604961
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	243	8794	603390
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	346	8896	311800
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PLN CL E G H	5350	154	Sandhaus Ben-Ami syndrome			ORPHA	0	178	9080	172405
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PPARG CL E G H	5468	79083				ORPHA	0	166	9236	601487
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PPCS CL E G H	79717	154	Sandhaus Ben-Ami syndrome			ORPHA	0	204	25686	609853
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PRDM16 CL E G H	63976	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1272	14000	605557
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	43	9380	601639
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	0	1131	9388	188830
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PSEN1 CL E G H	5663	154	Sandhaus Ben-Ami syndrome			ORPHA	0	501	9508	104311
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PSEN2 CL E G H	5664	154	Sandhaus Ben-Ami syndrome			ORPHA	0	279	9509	600759
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RAF1 CL E G H	5894	154	Sandhaus Ben-Ami syndrome			ORPHA	0	990	9829	164760
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RBM20 CL E G H	282996	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1623	27424	613171
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	0	1765	10591	603967
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SCN5A CL E G H	6331	154	Sandhaus Ben-Ami syndrome			ORPHA	0	3531	10593	600163
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SDHA CL E G H	6389	154	Sandhaus Ben-Ami syndrome			ORPHA	0	2503	10680	600857
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SGCD CL E G H	6444	154	Sandhaus Ben-Ami syndrome			ORPHA	0	673	10807	601411
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TAF1A CL E G H	9015	154	Sandhaus Ben-Ami syndrome			ORPHA	0	49	11532	604903
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TAZ CL E G H	6901	154	Sandhaus Ben-Ami syndrome			ORPHA	0		11577	300394
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	0	456	11582	604934
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TCAP CL E G H	8557	154	Sandhaus Ben-Ami syndrome			ORPHA	0	298	11610	604488
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TMPO CL E G H	7112	154	Sandhaus Ben-Ami syndrome			ORPHA	0	597	11875	188380
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TNNC1 CL E G H	7134	154	Sandhaus Ben-Ami syndrome			ORPHA	0	300	11943	191040
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TNNI3 CL E G H	7137	154	Sandhaus Ben-Ami syndrome			ORPHA	0	655	11947	191044
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TNNT2 CL E G H	7139	154	Sandhaus Ben-Ami syndrome			ORPHA	0	817	11949	191045
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TPM1 CL E G H	7168	154	Sandhaus Ben-Ami syndrome			ORPHA	0	767	12010	191010
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TTN CL E G H	7273	154	Sandhaus Ben-Ami syndrome			ORPHA	0	27503	12403	188840
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	TXNRD2 CL E G H	10587	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1068	18155	606448
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	USP8 CL E G H	9101	96253				ORPHA	0	158	12631	603158
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	VCL CL E G H	7414	154	Sandhaus Ben-Ami syndrome			ORPHA	0	1175	12665	193065
HP:0003198	HP:0003787	Type 1 and type 2 muscle fiber minicore regions	2	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201