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:0004303	HP:0004303	Abnormal muscle fiber morphology	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency		50
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		74
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	247
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2		46
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		57
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040284 - Very rare	103
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1		600
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant		197
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome		14
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14		34
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	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:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity		145
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	73
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4		286
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs		14
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy		75
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY		75
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent	217
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25		9
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040281 - Very frequent	10
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		464
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		241
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		59
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome		125
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome		67
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC25A32 CL E G H	81034	29683	OMIM:616839	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI		3
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy		14
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy		5
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy		37
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent	54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent	108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18		27
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		31
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8		108
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type		4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive		7128
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		113
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		113
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent	35
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0004303	HP:0034508	Fingerprint bodies	1	CL E G H
HP:0004303	HP:0100305	Ring fibers	1	CL E G H
HP:0004303	HP:0031542	Myelin-like whorls in vacuolated fibers	1	CL E G H
HP:0004303	HP:0100296	Perifascicular muscle fiber atrophy	1	CL E G H
HP:0004303	HP:0034509	Spheroid bodies	1	CL E G H
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0004303	HP:0003713	Muscle fiber necrosis	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0003555	Muscle fiber splitting	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0004303	HP:0003736	Autophagic vacuoles	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0004303	HP:0003805	Rimmed vacuoles	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0003736	Autophagic vacuoles	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0003805	Rimmed vacuoles	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0003555	Muscle fiber splitting	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0004303	HP:0003805	Rimmed vacuoles	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0004303	HP:0100295	Muscle fiber atrophy	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent	50
HP:0004303	HP:0003555	Muscle fiber splitting	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	114
HP:0004303	HP:0003555	Muscle fiber splitting	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0003805	Rimmed vacuoles	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0034045	Angulated muscle fibers	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	99
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0004303	HP:0003713	Muscle fiber necrosis	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0004303	HP:0003555	Muscle fiber splitting	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	5
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4	.	25
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0004303	HP:0003805	Rimmed vacuoles	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0004303	HP:0003555	Muscle fiber splitting	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0004303	HP:0003805	Rimmed vacuoles	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0004303	HP:0100295	Muscle fiber atrophy	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0004303	HP:0003805	Rimmed vacuoles	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0004303	HP:0003713	Muscle fiber necrosis	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0004303	HP:0003805	Rimmed vacuoles	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0004303	HP:0003713	Muscle fiber necrosis	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0004303	HP:0003805	Rimmed vacuoles	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0004303	HP:0003713	Muscle fiber necrosis	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0004303	HP:0100295	Muscle fiber atrophy	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0004303	HP:0100295	Muscle fiber atrophy	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0004303	HP:0100295	Muscle fiber atrophy	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0100295	Muscle fiber atrophy	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040282 - Frequent	101
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0004303	HP:0003736	Autophagic vacuoles	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0004303	HP:0003736	Autophagic vacuoles	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0004303	HP:0003555	Muscle fiber splitting	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.	57
HP:0004303	HP:0003713	Muscle fiber necrosis	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1		103
HP:0004303	HP:0003805	Rimmed vacuoles	1	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040283 - Occasional	103
HP:0004303	HP:0003555	Muscle fiber splitting	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0004303	HP:0003805	Rimmed vacuoles	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	167
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0004303	HP:0003805	Rimmed vacuoles	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0004303	HP:0003805	Rimmed vacuoles	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	HP:0040283 - Occasional	600
HP:0004303	HP:0003555	Muscle fiber splitting	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0004303	HP:0100295	Muscle fiber atrophy	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0004303	HP:0100295	Muscle fiber atrophy	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0004303	HP:0003805	Rimmed vacuoles	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0004303	HP:0003805	Rimmed vacuoles	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0004303	HP:0003805	Rimmed vacuoles	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0004303	HP:0003805	Rimmed vacuoles	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0004303	HP:0100295	Muscle fiber atrophy	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant		197
HP:0004303	HP:0003555	Muscle fiber splitting	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0004303	HP:0100295	Muscle fiber atrophy	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0004303	HP:0100295	Muscle fiber atrophy	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0004303	HP:0025717	Skeletal muscle autophagosome accumulation	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0004303	HP:0003805	Rimmed vacuoles	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0004303	HP:0003805	Rimmed vacuoles	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14		34
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0004303	HP:0003805	Rimmed vacuoles	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy	.	173
HP:0004303	HP:0003805	Rimmed vacuoles	1	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0004303	HP:0100295	Muscle fiber atrophy	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0004303	HP:0100295	Muscle fiber atrophy	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0004303	HP:0003805	Rimmed vacuoles	1	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	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:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	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:0004303	HP:0100297	Increased endomysial connective tissue	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:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	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:0004303	HP:0003805	Rimmed vacuoles	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:0004303	HP:0003805	Rimmed vacuoles	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:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0004303	HP:0003805	Rimmed vacuoles	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2		5
HP:0004303	HP:0100295	Muscle fiber atrophy	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.	5
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.	5
HP:0004303	HP:0003805	Rimmed vacuoles	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:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0004303	HP:0003805	Rimmed vacuoles	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0004303	HP:0100295	Muscle fiber atrophy	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0004303	HP:0100295	Muscle fiber atrophy	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0004303	HP:0100295	Muscle fiber atrophy	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity		145
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0100295	Muscle fiber atrophy	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.	411
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0004303	HP:0100295	Muscle fiber atrophy	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0004303	HP:0003555	Muscle fiber splitting	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0004303	HP:0003736	Autophagic vacuoles	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0100295	Muscle fiber atrophy	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0003805	Rimmed vacuoles	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0003805	Rimmed vacuoles	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004303	HP:0100295	Muscle fiber atrophy	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0004303	HP:0100295	Muscle fiber atrophy	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0004303	HP:0034045	Angulated muscle fibers	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0004303	HP:0003805	Rimmed vacuoles	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0004303	HP:0003736	Autophagic vacuoles	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0004303	HP:0100295	Muscle fiber atrophy	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0004303	HP:0003805	Rimmed vacuoles	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	HP:0040284 - Very rare	2
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0004303	HP:0003805	Rimmed vacuoles	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0004303	HP:0003805	Rimmed vacuoles	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0004303	HP:0003713	Muscle fiber necrosis	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0004303	HP:0030230	Central core regions in muscle fibers	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs		14
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0004303	HP:0003713	Muscle fiber necrosis	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0004303	HP:0031238	Necklace skeletal muscle fibers	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	7
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	19
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0004303	HP:0100295	Muscle fiber atrophy	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0004303	HP:0003555	Muscle fiber splitting	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0004303	HP:0003805	Rimmed vacuoles	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004303	HP:0100295	Muscle fiber atrophy	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0004303	HP:0100295	Muscle fiber atrophy	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0004303	HP:0003736	Autophagic vacuoles	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy		75
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY		75
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25		9
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0003805	Rimmed vacuoles	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0003555	Muscle fiber splitting	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0004303	HP:0003555	Muscle fiber splitting	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004303	HP:0003805	Rimmed vacuoles	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004303	HP:0003805	Rimmed vacuoles	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	19
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0004303	HP:0100295	Muscle fiber atrophy	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040281 - Very frequent	10
HP:0004303	HP:0003805	Rimmed vacuoles	1	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040281 - Very frequent	10
HP:0004303	HP:0003713	Muscle fiber necrosis	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0004303	HP:0003555	Muscle fiber splitting	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0004303	HP:0100298	Motheaten muscle fibers	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0004303	HP:0100295	Muscle fiber atrophy	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0004303	HP:0003805	Rimmed vacuoles	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0004303	HP:0003805	Rimmed vacuoles	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional	65
HP:0004303	HP:0100295	Muscle fiber atrophy	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0004303	HP:0100295	Muscle fiber atrophy	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0004303	HP:0003713	Muscle fiber necrosis	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0004303	HP:0100295	Muscle fiber atrophy	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0004303	HP:0003713	Muscle fiber necrosis	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0004303	HP:0003713	Muscle fiber necrosis	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0004303	HP:0003713	Muscle fiber necrosis	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0004303	HP:0030230	Central core regions in muscle fibers	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004303	HP:0003736	Autophagic vacuoles	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004303	HP:0003805	Rimmed vacuoles	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent	125
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0004303	HP:0030230	Central core regions in muscle fibers	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0004303	HP:0030230	Central core regions in muscle fibers	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0100293	Hypertrophied muscle fibers	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0100295	Muscle fiber atrophy	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0004303	HP:0100295	Muscle fiber atrophy	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0004303	HP:0003713	Muscle fiber necrosis	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0004303	HP:0003555	Muscle fiber splitting	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0004303	HP:0003713	Muscle fiber necrosis	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0004303	HP:0003805	Rimmed vacuoles	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SLC25A32 CL E G H	81034	29683	OMIM:616839	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI		3
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0004303	HP:0003713	Muscle fiber necrosis	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0034045	Angulated muscle fibers	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0003805	Rimmed vacuoles	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0004303	HP:0003805	Rimmed vacuoles	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	287
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	54
HP:0004303	HP:0003805	Rimmed vacuoles	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	62
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0003805	Rimmed vacuoles	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0100295	Muscle fiber atrophy	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent	14
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0004303	HP:0100295	Muscle fiber atrophy	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	31
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0004303	HP:0100295	Muscle fiber atrophy	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0004303	HP:0003805	Rimmed vacuoles	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0004303	HP:0003805	Rimmed vacuoles	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0004303	HP:0100295	Muscle fiber atrophy	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0004303	HP:0003805	Rimmed vacuoles	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0004303	HP:0003805	Rimmed vacuoles	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	5
HP:0004303	HP:0003805	Rimmed vacuoles	1	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0004303	HP:0100295	Muscle fiber atrophy	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0004303	HP:0100295	Muscle fiber atrophy	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0004303	HP:0003805	Rimmed vacuoles	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy		37
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0003736	Autophagic vacuoles	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0004303	HP:0003805	Rimmed vacuoles	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0004303	HP:0003555	Muscle fiber splitting	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	HP:0040283 - Occasional	134
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.	10
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0004303	HP:0100295	Muscle fiber atrophy	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0004303	HP:0100295	Muscle fiber atrophy	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0004303	HP:0100295	Muscle fiber atrophy	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8		108
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	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:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0004303	HP:0100295	Muscle fiber atrophy	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent	101
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004303	HP:0003555	Muscle fiber splitting	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0004303	HP:0100295	Muscle fiber atrophy	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0004303	HP:0003805	Rimmed vacuoles	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0004303	HP:0003555	Muscle fiber splitting	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0004303	HP:0100293	Hypertrophied muscle fibers	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional	7128
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0004303	HP:0003555	Muscle fiber splitting	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0004303	HP:0003805	Rimmed vacuoles	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0004303	HP:0003805	Rimmed vacuoles	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0004303	HP:0003805	Rimmed vacuoles	1	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0004303	HP:0003713	Muscle fiber necrosis	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		113
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0100295	Muscle fiber atrophy	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0004303	HP:0003805	Rimmed vacuoles	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0004303	HP:0003805	Rimmed vacuoles	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0004303	HP:0003805	Rimmed vacuoles	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
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0004303	HP:0100295	Muscle fiber atrophy	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0004303	HP:0030123	Abnormal muscle fiber lamin A/C	2	CL E G H
HP:0004303	HP:0030105	Abnormal muscle fiber delta sarcoglycan	2	CL E G H
HP:0004303	HP:0030122	Reduced muscle fiber perlecan	2	CL E G H
HP:0004303	HP:0030104	Abnormal muscle fiber gamma sarcoglycan	2	CL E G H
HP:0004303	HP:0100304	Muscle fiber intranuclear inclusion bodies	2	CL E G H
HP:0004303	HP:0030093	Abnormal muscle fiber laminin beta 1	2	CL E G H
HP:0004303	HP:0030103	Abnormal muscle fiber beta sarcoglycan	2	CL E G H
HP:0004303	HP:0025200	Muscle fiber actin filament accumulation	2	CL E G H
HP:0004303	HP:0030228	Abnormal muscle fiber valosin-containing protein	2	CL E G H
HP:0004303	HP:0030119	Abnormal muscle fiber calpain-3	2	CL E G H
HP:0004303	HP:0030100	Abnormal muscle fiber alpha sarcoglycan	2	CL E G H
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	96
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0033685	Fiber type grouping	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	5
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040283 - Occasional	5
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	HP:0040283 - Occasional	1
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	65
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	442
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	478
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	702
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0004303	HP:0030224	Abnormal muscle fiber desmin	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0004303	HP:0030096	Abnormal muscle fiber dystrophin expression	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040282 - Frequent	103
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0004303	HP:0030113	Abnormal muscle fiber dysferlin	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0004303	HP:0033685	Fiber type grouping	2	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0004303	HP:0030090	Abnormal muscle fiber merosin expression	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14		34
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	2
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	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:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	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:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	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:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	127
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040281 - Very frequent	145
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0030090	Abnormal muscle fiber merosin expression	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	2
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0004303	HP:0033685	Fiber type grouping	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	131
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0004303	HP:0030226	Abnormal muscle fiber myotilin	2	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040281 - Very frequent	75
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25		9
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	19
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040283 - Occasional	19
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0004303	HP:0033685	Fiber type grouping	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0004303	HP:0033685	Fiber type grouping	2	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.	1200
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040283 - Occasional	1200
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	144
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0004303	HP:0033685	Fiber type grouping	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	31
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040283 - Occasional	31
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent	37
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	54
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	108
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent	108
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0004303	HP:0033685	Fiber type grouping	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	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
HP:0004303	HP:0030098	Reduced muscle dystrophin expression	3	CL E G H
HP:0004303	HP:0030111	Reduced muscle fiber delta sarcoglycan	3	CL E G H
HP:0004303	HP:0030094	Reduced muscle fiber laminin beta 1	3	CL E G H
HP:0004303	HP:0030110	Absent muscle fiber delta sarcoglycan	3	CL E G H
HP:0004303	HP:0030121	Reduced muscle fiber calpain-3	3	CL E G H
HP:0004303	HP:0030229	Accumulation of muscle fiber valosin-containing protein	3	CL E G H
HP:0004303	HP:0030109	Absent muscle fiber gamma sarcoglycan	3	CL E G H
HP:0004303	HP:0100302	Muscle fiber tubuloreticular inclusions	3	CL E G H
HP:0004303	HP:0030120	Absent muscle fiber calpain-3	3	CL E G H
HP:0004303	HP:0030102	Reduced muscle fiber alpha sarcoglycan	3	CL E G H
HP:0004303	HP:0030108	Reduced muscle fiber gamma sarcoglycan	3	CL E G H
HP:0004303	HP:0100300	Desmin bodies	3	CL E G H
HP:0004303	HP:0030101	Absent muscle fiber alpha sarcoglycan	3	CL E G H
HP:0004303	HP:0030227	Accumulation of muscle fiber myotilin	3	CL E G H
HP:0004303	HP:0030107	Reduced muscle fiber beta sarcoglycan	3	CL E G H
HP:0004303	HP:0030118	Reduced muscle fiber emerin	3	CL E G H
HP:0004303	HP:0030124	Reduced muscle fiber lamin A/C	3	CL E G H
HP:0004303	HP:0030106	Absent muscle fiber beta sarcoglycan	3	CL E G H
HP:0004303	HP:0030115	Reduced muscle fiber dysferlin	3	CL E G H
HP:0004303	HP:0003798	Nemaline bodies	3	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	96
HP:0004303	HP:0003798	Nemaline bodies	3	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	96
HP:0004303	HP:0003798	Nemaline bodies	3	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0004303	HP:0003798	Nemaline bodies	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0004303	HP:0003798	Nemaline bodies	3	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0004303	HP:0003798	Nemaline bodies	3	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0004303	HP:0020203	Z-band streaming	3	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0004303	HP:0003798	Nemaline bodies	3	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0004303	HP:0003798	Nemaline bodies	3	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040281 - Very frequent
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0004303	HP:0030225	Accumulation of muscle fiber desmin	3	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040281 - Very frequent	108
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0004303	HP:0030097	Absent muscle dystrophin expression	3	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0004303	HP:0030114	Absent muscle fiber dysferlin	3	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040281 - Very frequent	600
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0004303	HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	3	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	157
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	157
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	157
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	157
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040281 - Very frequent	157
HP:0004303	HP:0030092	Reduced muscle fiber merosin	3	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional	157
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent	184
HP:0004303	HP:0020203	Z-band streaming	3	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	34
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	34
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	34
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	34
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.	34
HP:0004303	HP:0003798	Nemaline bodies	3	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	80
HP:0004303	HP:0003798	Nemaline bodies	3	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0004303	HP:0003798	Nemaline bodies	3	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0004303	HP:0003798	Nemaline bodies	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0004303	HP:0003798	Nemaline bodies	3	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	13
HP:0004303	HP:0003798	Nemaline bodies	3	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	13
HP:0004303	HP:0003798	Nemaline bodies	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0004303	HP:0003798	Nemaline bodies	3	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0004303	HP:0003798	Nemaline bodies	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0033008	Increased Z-disc width	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0020203	Z-band streaming	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0004303	HP:0030091	Absent muscle fiber merosin	3	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	136
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	136
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0004303	HP:0033008	Increased Z-disc width	3	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0004303	HP:0003798	Nemaline bodies	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0004303	HP:0003798	Nemaline bodies	3	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0004303	HP:0100306	Muscle fiber hyaline bodies	3	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0004303	HP:0003798	Nemaline bodies	3	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0004303	HP:0003798	Nemaline bodies	3	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	217
HP:0004303	HP:0003798	Nemaline bodies	3	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0004303	HP:0003798	Nemaline bodies	3	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.	9
HP:0004303	HP:0003798	Nemaline bodies	3	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0004303	HP:0003798	Nemaline bodies	3	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	745
HP:0004303	HP:0003798	Nemaline bodies	3	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0003798	Nemaline bodies	3	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	745
HP:0004303	HP:0003798	Nemaline bodies	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0004303	HP:0003798	Nemaline bodies	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0004303	HP:0003798	Nemaline bodies	3	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0004303	HP:0003798	Nemaline bodies	3	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	180
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	180
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	18
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	18
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	213
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	213
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	213
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	213
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	221
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	221
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	221
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	221
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040281 - Very frequent	221
HP:0004303	HP:0003798	Nemaline bodies	3	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0004303	HP:0003798	Nemaline bodies	3	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0004303	HP:0003798	Nemaline bodies	3	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional	1200
HP:0004303	HP:0003798	Nemaline bodies	3	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0004303	HP:0003798	Nemaline bodies	3	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0004303	HP:0020203	Z-band streaming	3	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0004303	HP:0020203	Z-band streaming	3	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0003798	Nemaline bodies	3	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0004303	HP:0003798	Nemaline bodies	3	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	54
HP:0004303	HP:0003798	Nemaline bodies	3	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0004303	HP:0003798	Nemaline bodies	3	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0004303	HP:0003798	Nemaline bodies	3	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	108
HP:0004303	HP:0003798	Nemaline bodies	3	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	108
HP:0004303	HP:0003798	Nemaline bodies	3	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0004303	HP:0020203	Z-band streaming	3	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1