Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1		103
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs		14
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		464
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent	14
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8		108
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		113
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0012084	HP:0012084	Abnormality of skeletal muscle fiber size	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	5
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	HP:0040283 - Occasional	1
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040282 - Frequent	103
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	5
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	19
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	31
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0012084	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent	108
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0012084	HP:0003557	Increased variability in muscle fiber diameter	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	63