Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the musculature (HP:0003011)help
Parent Node:
expand
Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
..expand
Myopathy (HP:0003198)help
Term ID: 3198
Name: Myopathy
Synonym: Muscle tissue disease; Myopathic changes
Definition: A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Comments:
Reference: HP:0003198
Genes and Diseases:
 
       Child Nodes:
........expandEMG: myopathic abnormalities (HP:0003458) help
........expandMyofibrillar myopathy (HP:0003715) help
........expandSkeletal myopathy (HP:0003756) help
........expandMinicore myopathy (HP:0003789) help
................... HP:0003787 Type 1 and type 2 muscle fiber minicore regions
........expandNecrotizing myopathy (HP:0008978) help
........expandInflammatory myopathy (HP:0009071) help

 Sister Nodes: 
..expandAbnormal muscle fiber morphology (HP:0004303) help
..expandAbnormality of muscle size (HP:0030236) help
..expandCalcinosis (HP:0003761) help
..expandDecreased muscle mass (HP:0003199) help
..expandFatty replacement of skeletal muscle (HP:0012548) help
..expandFirm muscles (HP:0003725) help
..expandFlexion contracture (HP:0001371) help
..expandGeneralized muscular appearance from birth (HP:0003716) help
..expandIntramuscular hematoma (HP:0012233) help
..expandLevator palpebrae superioris atrophy (HP:0012241) help
..expandMuscular dystrophy (HP:0003560) help
..expandMuscular edema (HP:0100748) help
..expandMyositis (HP:0100614) help
..expandRhabdomyolysis (HP:0003201) help
..expandSkeletal muscle fibrosis (HP:0030951) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003198HP:0003198Myopathy0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional254
HP:0003198HP:0003198Myopathy0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0003198HP:0003198Myopathy0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0003198HP:0003198Myopathy0ACACA CL E G H3184OMIM:613933Acetyl-CoA carboxylase deficiency.
HP:0003198HP:0003198Myopathy0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0003198HP:0003198Myopathy0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0003198HP:0003198Myopathy0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0003198HP:0003198Myopathy0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional90
HP:0003198HP:0003198Myopathy0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent96
HP:0003198HP:0003198Myopathy0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0003198HP:0003198Myopathy0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0003198HP:0003198Myopathy0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040281 - Very frequent96
HP:0003198HP:0003198Myopathy0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0003198HP:0003198Myopathy0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0003198HP:0003198Myopathy0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional208
HP:0003198HP:0003198Myopathy0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional307
HP:0003198HP:0003198Myopathy0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0003198HP:0003198Myopathy0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0003198HP:0003198Myopathy0AGK CL E G H5575021869ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040281 - Very frequent82
HP:0003198HP:0003198Myopathy0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0003198HP:0003198Myopathy0AGL CL E G H178321ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiencyHP:0040282 - Frequent216
HP:0003198HP:0003198Myopathy0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0003198HP:0003198Myopathy0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0003198HP:0003198Myopathy0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0003198HP:0003198Myopathy0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0003198HP:0003198Myopathy0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0003198HP:0003198Myopathy0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0003198HP:0003198Myopathy0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XIIHP:0040283 - Occasional50
HP:0003198HP:0003198Myopathy0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0003198HP:0003198Myopathy0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0003198HP:0003198Myopathy0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0003198HP:0003198Myopathy0AMPD1 CL E G H270468OMIM:615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD62
HP:0003198HP:0003198Myopathy0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional95
HP:0003198HP:0003198Myopathy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003198HP:0003198Myopathy0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0003198HP:0003198Myopathy0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040282 - Frequent13
HP:0003198HP:0003198Myopathy0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0003198HP:0003198Myopathy0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent43
HP:0003198HP:0003198Myopathy0B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID.85
HP:0003198HP:0003198Myopathy0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional204
HP:0003198HP:0003198Myopathy0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0003198HP:0003198Myopathy0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0003198HP:0003198Myopathy0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0003198HP:0003198Myopathy0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0003198HP:0003198Myopathy0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0003198HP:0003198Myopathy0CACNA1S CL E G H7791397OMIM:170400Hypokalemic periodic paralysis, type 1HP:0040283 - Occasional247
HP:0003198HP:0003198Myopathy0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0003198HP:0003198Myopathy0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0003198HP:0003198Myopathy0CASQ1 CL E G H8441512ORPHA:2593Tubular aggregate myopathy5
HP:0003198HP:0003198Myopathy0CASQ1 CL E G H8441512ORPHA:88635Vacuolar myopathy with sarcoplasmic reticulum protein aggregatesHP:0040281 - Very frequent5
HP:0003198HP:0003198Myopathy0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0003198HP:0003198Myopathy0CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0003198HP:0003198Myopathy0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0003198HP:0003198Myopathy0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003198HP:0003198Myopathy0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0003198HP:0003198Myopathy0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0003198HP:0003198Myopathy0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0003198HP:0003198Myopathy0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0003198HP:0003198Myopathy0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0003198HP:0003198Myopathy0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0003198HP:0003198Myopathy0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003198HP:0003198Myopathy0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0003198HP:0003198Myopathy0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0003198HP:0003198Myopathy0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0003198HP:0003198Myopathy0CHRNB1 CL E G H11401961OMIM:616314Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.53
HP:0003198HP:0003198Myopathy0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0003198HP:0003198Myopathy0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0003198HP:0003198Myopathy0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0003198HP:0003198Myopathy0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0003198HP:0003198Myopathy0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0003198HP:0003198Myopathy0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0003198HP:0003198Myopathy0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003198HP:0003198Myopathy0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0003198HP:0003198Myopathy0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0003198HP:0003198Myopathy0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0003198HP:0003198Myopathy0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0003198HP:0003198Myopathy0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003198HP:0003198Myopathy0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0003198HP:0003198Myopathy0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0003198HP:0003198Myopathy0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003198HP:0003198Myopathy0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0003198HP:0003198Myopathy0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0003198HP:0003198Myopathy0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003198HP:0003198Myopathy0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0003198HP:0003198Myopathy0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0003198HP:0003198Myopathy0COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040284 - Very rare110
HP:0003198HP:0003198Myopathy0COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040284 - Very rare110
HP:0003198HP:0003198Myopathy0COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040284 - Very rare137
HP:0003198HP:0003198Myopathy0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003198HP:0003198Myopathy0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0003198HP:0003198Myopathy0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0003198HP:0003198Myopathy0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0003198HP:0003198Myopathy0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0003198HP:0003198Myopathy0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0003198HP:0003198Myopathy0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional46
HP:0003198HP:0003198Myopathy0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0003198HP:0003198Myopathy0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional104
HP:0003198HP:0003198Myopathy0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0003198HP:0003198Myopathy0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional263
HP:0003198HP:0003198Myopathy0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0003198HP:0003198Myopathy0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003198HP:0003198Myopathy0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0003198HP:0003198Myopathy0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0003198HP:0003198Myopathy0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1496
HP:0003198HP:0003198Myopathy0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0003198HP:0003198Myopathy0DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1103
HP:0003198HP:0003198Myopathy0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional94
HP:0003198HP:0003198Myopathy0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0003198HP:0003198Myopathy0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003198HP:0003198Myopathy0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0003198HP:0003198Myopathy0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional55
HP:0003198HP:0003198Myopathy0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0003198HP:0003198Myopathy0DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0003198HP:0003198Myopathy0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0003198HP:0003198Myopathy0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0003198HP:0003198Myopathy0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional358
HP:0003198HP:0003198Myopathy0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional747
HP:0003198HP:0003198Myopathy0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0003198HP:0003198Myopathy0DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset.600
HP:0003198HP:0003198Myopathy0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0003198HP:0003198Myopathy0EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked.107
HP:0003198HP:0003198Myopathy0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent107
HP:0003198HP:0003198Myopathy0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0003198HP:0003198Myopathy0ERGIC1 CL E G H5722229205OMIM:208100Arthrogryposis multiplex congenita, Neurogenic type.
HP:0003198HP:0003198Myopathy0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0003198HP:0003198Myopathy0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0003198HP:0003198Myopathy0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0003198HP:0003198Myopathy0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0003198HP:0003198Myopathy0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent68
HP:0003198HP:0003198Myopathy0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional36
HP:0003198HP:0003198Myopathy0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0003198HP:0003198Myopathy0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040281 - Very frequent13
HP:0003198HP:0003198Myopathy0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0003198HP:0003198Myopathy0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent157
HP:0003198HP:0003198Myopathy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0003198HP:0003198Myopathy0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0003198HP:0003198Myopathy0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0003198HP:0003198Myopathy0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional184
HP:0003198HP:0003198Myopathy0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent184
HP:0003198HP:0003198Myopathy0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.18
HP:0003198HP:0003198Myopathy0FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant197
HP:0003198HP:0003198Myopathy0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0003198HP:0003198Myopathy0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0003198HP:0003198Myopathy0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0003198HP:0003198Myopathy0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0003198HP:0003198Myopathy0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0003198HP:0003198Myopathy0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0003198HP:0003198Myopathy0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0003198HP:0003198Myopathy0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional35
HP:0003198HP:0003198Myopathy0GCLC CL E G H27294311OMIM:230450Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto.2
HP:0003198HP:0003198Myopathy0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040281 - Very frequent2
HP:0003198HP:0003198Myopathy0GFER CL E G H26714236OMIM:613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay14
HP:0003198HP:0003198Myopathy0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0003198HP:0003198Myopathy0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003198HP:0003198Myopathy0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0003198HP:0003198Myopathy0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0003198HP:0003198Myopathy0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0003198HP:0003198Myopathy0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent34
HP:0003198HP:0003198Myopathy0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0003198HP:0003198Myopathy0GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0003198HP:0003198Myopathy0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003198HP:0003198Myopathy0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003198HP:0003198Myopathy0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003198HP:0003198Myopathy0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0003198HP:0003198Myopathy0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0003198HP:0003198Myopathy0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0003198HP:0003198Myopathy0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0003198HP:0003198Myopathy0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0003198HP:0003198Myopathy0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional2
HP:0003198HP:0003198Myopathy0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3.31
HP:0003198HP:0003198Myopathy0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0003198HP:0003198Myopathy0HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2.5
HP:0003198HP:0003198Myopathy0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0003198HP:0003198Myopathy0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0003198HP:0003198Myopathy0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0003198HP:0003198Myopathy0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0003198HP:0003198Myopathy0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0003198HP:0003198Myopathy0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0003198HP:0003198Myopathy0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003198HP:0003198Myopathy0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent80
HP:0003198HP:0003198Myopathy0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 6.80
HP:0003198HP:0003198Myopathy0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0003198HP:0003198Myopathy0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0003198HP:0003198Myopathy0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent13
HP:0003198HP:0003198Myopathy0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0003198HP:0003198Myopathy0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0003198HP:0003198Myopathy0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0003198HP:0003198Myopathy0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional279
HP:0003198HP:0003198Myopathy0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0003198HP:0003198Myopathy0LAMP2 CL E G H39206501OMIM:300257Danon disease211
HP:0003198HP:0003198Myopathy0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent136
HP:0003198HP:0003198Myopathy0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0003198HP:0003198Myopathy0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional286
HP:0003198HP:0003198Myopathy0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4286
HP:0003198HP:0003198Myopathy0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0003198HP:0003198Myopathy0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent645
HP:0003198HP:0003198Myopathy0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent645
HP:0003198HP:0003198Myopathy0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040283 - Occasional645
HP:0003198HP:0003198Myopathy0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040282 - Frequent645
HP:0003198HP:0003198Myopathy0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional645
HP:0003198HP:0003198Myopathy0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0003198HP:0003198Myopathy0LMNA CL E G H40006636OMIM:610140Heart-hand syndrome, Slovenian typeHP:0040283 - Occasional645
HP:0003198HP:0003198Myopathy0LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophyHP:0040282 - Frequent11
HP:0003198HP:0003198Myopathy0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0003198HP:0003198Myopathy0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0003198HP:0003198Myopathy0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0003198HP:0003198Myopathy0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0003198HP:0003198Myopathy0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0003198HP:0003198Myopathy0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003198HP:0003198Myopathy0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0003198HP:0003198Myopathy0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0003198HP:0003198Myopathy0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0003198HP:0003198Myopathy0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytomaHP:0040283 - Occasional85
HP:0003198HP:0003198Myopathy0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0003198HP:0003198Myopathy0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003198HP:0003198Myopathy0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0003198HP:0003198Myopathy0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0003198HP:0003198Myopathy0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0003198HP:0003198Myopathy0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0003198HP:0003198Myopathy0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1143
HP:0003198HP:0003198Myopathy0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0003198HP:0003198Myopathy0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0003198HP:0003198Myopathy0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia.105
HP:0003198HP:0003198Myopathy0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional452
HP:0003198HP:0003198Myopathy0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1269
HP:0003198HP:0003198Myopathy0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0003198HP:0003198Myopathy0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003198HP:0003198Myopathy0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0003198HP:0003198Myopathy0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003198HP:0003198Myopathy0MYH7 CL E G H46257577OMIM:181430Scapuloperoneal myopathy, myh7-related.1269
HP:0003198HP:0003198Myopathy0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0003198HP:0003198Myopathy0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional5
HP:0003198HP:0003198Myopathy0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0003198HP:0003198Myopathy0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0003198HP:0003198Myopathy0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0003198HP:0003198Myopathy0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A75
HP:0003198HP:0003198Myopathy0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0003198HP:0003198Myopathy0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0003198HP:0003198Myopathy0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY75
HP:0003198HP:0003198Myopathy0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent217
HP:0003198HP:0003198Myopathy0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional217
HP:0003198HP:0003198Myopathy0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0003198HP:0003198Myopathy0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0003198HP:0003198Myopathy0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0003198HP:0003198Myopathy0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0ND5 CL E G H45407461ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0003198HP:0003198Myopathy0ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 14.32
HP:0003198HP:0003198Myopathy0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0003198HP:0003198Myopathy0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0003198HP:0003198Myopathy0NDUFB3 CL E G H47097698OMIM:618246Mitochondrial complex I deficiency, nuclear type 25.9
HP:0003198HP:0003198Myopathy0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional65
HP:0003198HP:0003198Myopathy0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent745
HP:0003198HP:0003198Myopathy0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0003198HP:0003198Myopathy0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0003198HP:0003198Myopathy0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003198HP:0003198Myopathy0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0003198HP:0003198Myopathy0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003198HP:0003198Myopathy0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0003198HP:0003198Myopathy0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional167
HP:0003198HP:0003198Myopathy0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0003198HP:0003198Myopathy0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0003198HP:0003198Myopathy0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0003198HP:0003198Myopathy0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional214
HP:0003198HP:0003198Myopathy0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0003198HP:0003198Myopathy0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0003198HP:0003198Myopathy0ORAI1 CL E G H8487625896ORPHA:2593Tubular aggregate myopathy19
HP:0003198HP:0003198Myopathy0PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophyHP:0040281 - Very frequent10
HP:0003198HP:0003198Myopathy0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0003198HP:0003198Myopathy0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0PGAM2 CL E G H52248889OMIM:261670Phosphoglycerate mutase, muscle, deficiency of.26
HP:0003198HP:0003198Myopathy0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0003198HP:0003198Myopathy0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency21
HP:0003198HP:0003198Myopathy0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040281 - Very frequent759
HP:0003198HP:0003198Myopathy0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003198HP:0003198Myopathy0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional57
HP:0003198HP:0003198Myopathy0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0003198HP:0003198Myopathy0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0003198HP:0003198Myopathy0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0003198HP:0003198Myopathy0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathy65
HP:0003198HP:0003198Myopathy0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003198HP:0003198Myopathy0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003198HP:0003198Myopathy0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0003198HP:0003198Myopathy0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0003198HP:0003198Myopathy0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0003198HP:0003198Myopathy0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0003198HP:0003198Myopathy0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0003198HP:0003198Myopathy0POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent180
HP:0003198HP:0003198Myopathy0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0003198HP:0003198Myopathy0POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent213
HP:0003198HP:0003198Myopathy0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0003198HP:0003198Myopathy0POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent221
HP:0003198HP:0003198Myopathy0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0003198HP:0003198Myopathy0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0003198HP:0003198Myopathy0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional148
HP:0003198HP:0003198Myopathy0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0003198HP:0003198Myopathy0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional241
HP:0003198HP:0003198Myopathy0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional59
HP:0003198HP:0003198Myopathy0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0003198HP:0003198Myopathy0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0003198HP:0003198Myopathy0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0003198HP:0003198Myopathy0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent57
HP:0003198HP:0003198Myopathy0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional212
HP:0003198HP:0003198Myopathy0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0003198HP:0003198Myopathy0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional363
HP:0003198HP:0003198Myopathy0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0003198HP:0003198Myopathy0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0003198HP:0003198Myopathy0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003198HP:0003198Myopathy0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0003198HP:0003198Myopathy0RNR1 CL E G H45497470ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0003198HP:0003198Myopathy0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0003198HP:0003198Myopathy0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0003198HP:0003198Myopathy0RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0003198HP:0003198Myopathy0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0003198HP:0003198Myopathy0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0003198HP:0003198Myopathy0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0003198HP:0003198Myopathy0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0003198HP:0003198Myopathy0SAR1B CL E G H5112810535ORPHA:71Chylomicron retention diseaseHP:0040284 - Very rare8
HP:0003198HP:0003198Myopathy0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0003198HP:0003198Myopathy0SCN4A CL E G H632910591OMIM:170400Hypokalemic periodic paralysis, type 1HP:0040283 - Occasional263
HP:0003198HP:0003198Myopathy0SCN4A CL E G H632910591OMIM:613345Hypokalemic periodic paralysis, type 2.263
HP:0003198HP:0003198Myopathy0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0003198HP:0003198Myopathy0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0003198HP:0003198Myopathy0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1134
HP:0003198HP:0003198Myopathy0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0003198HP:0003198Myopathy0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional304
HP:0003198HP:0003198Myopathy0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0003198HP:0003198Myopathy0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0003198HP:0003198Myopathy0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0003198HP:0003198Myopathy0SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040284 - Very rare129
HP:0003198HP:0003198Myopathy0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0003198HP:0003198Myopathy0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0003198HP:0003198Myopathy0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040281 - Very frequent144
HP:0003198HP:0003198Myopathy0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003198HP:0003198Myopathy0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0003198HP:0003198Myopathy0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional223
HP:0003198HP:0003198Myopathy0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0003198HP:0003198Myopathy0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0003198HP:0003198Myopathy0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0003198HP:0003198Myopathy0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0003198HP:0003198Myopathy0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0003198HP:0003198Myopathy0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0003198HP:0003198Myopathy0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003198HP:0003198Myopathy0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0003198HP:0003198Myopathy0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0003198HP:0003198Myopathy0SLC25A3 CL E G H525010989ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndromeHP:0040282 - Frequent35
HP:0003198HP:0003198Myopathy0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0003198HP:0003198Myopathy0SLC25A4 CL E G H29110990ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040281 - Very frequent68
HP:0003198HP:0003198Myopathy0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0003198HP:0003198Myopathy0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0003198HP:0003198Myopathy0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0003198HP:0003198Myopathy0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003198HP:0003198Myopathy0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0003198HP:0003198Myopathy0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0003198HP:0003198Myopathy0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0003198HP:0003198Myopathy0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0003198HP:0003198Myopathy0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0003198HP:0003198Myopathy0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0003198HP:0003198Myopathy0STIM1 CL E G H678611386ORPHA:2593Tubular aggregate myopathy31
HP:0003198HP:0003198Myopathy0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0003198HP:0003198Myopathy0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003198HP:0003198Myopathy0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent1129
HP:0003198HP:0003198Myopathy0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent508
HP:0003198HP:0003198Myopathy0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0003198HP:0003198Myopathy0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0003198HP:0003198Myopathy0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0003198HP:0003198Myopathy0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040283 - Occasional52
HP:0003198HP:0003198Myopathy0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional78
HP:0003198HP:0003198Myopathy0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0003198HP:0003198Myopathy0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0003198HP:0003198Myopathy0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0003198HP:0003198Myopathy0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0003198HP:0003198Myopathy0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0003198HP:0003198Myopathy0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040280 - Obligate103
HP:0003198HP:0003198Myopathy0TKFC CL E G H2600724552ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent171
HP:0003198HP:0003198Myopathy0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional136
HP:0003198HP:0003198Myopathy0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional73
HP:0003198HP:0003198Myopathy0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional180
HP:0003198HP:0003198Myopathy0TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathy37
HP:0003198HP:0003198Myopathy0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0003198HP:0003198Myopathy0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0003198HP:0003198Myopathy0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 271
HP:0003198HP:0003198Myopathy0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0003198HP:0003198Myopathy0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional230
HP:0003198HP:0003198Myopathy0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent54
HP:0003198HP:0003198Myopathy0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0003198HP:0003198Myopathy0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent108
HP:0003198HP:0003198Myopathy0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0003198HP:0003198Myopathy0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0003198HP:0003198Myopathy0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0003198HP:0003198Myopathy0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0003198HP:0003198Myopathy0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0003198HP:0003198Myopathy0TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8HP:0040281 - Very frequent108
HP:0003198HP:0003198Myopathy0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0003198HP:0003198Myopathy0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent101
HP:0003198HP:0003198Myopathy0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0003198HP:0003198Myopathy0TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0TRNF CL E G H45587481ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNF CL E G H45587481OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003198HP:0003198Myopathy0TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0TRNH CL E G H45647487ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNI CL E G H45657488OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003198HP:0003198Myopathy0TRNK CL E G H45667489ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNK CL E G H45667489OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003198HP:0003198Myopathy0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0TRNL1 CL E G H45677490ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNL1 CL E G H45677490OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003198HP:0003198Myopathy0TRNP CL E G H45717494ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNP CL E G H45717494OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003198HP:0003198Myopathy0TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0TRNQ CL E G H45727495ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0TRNS1 CL E G H45747497ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0TRNS2 CL E G H45757498ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003198HP:0003198Myopathy0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNT CL E G H45767499OMIM:551000Myopathy, mitochondrial, lethal infantile.
HP:0003198HP:0003198Myopathy0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0003198HP:0003198Myopathy0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003198HP:0003198Myopathy0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional7128
HP:0003198HP:0003198Myopathy0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0003198HP:0003198Myopathy0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 107128
HP:0003198HP:0003198Myopathy0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003198HP:0003198Myopathy0TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0003198HP:0003198Myopathy0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040282 - Frequent7128
HP:0003198HP:0003198Myopathy0TTN CL E G H727312403OMIM:600334Tibial muscular dystrophy, tardive7128
HP:0003198HP:0003198Myopathy0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0003198HP:0003198Myopathy0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0003198HP:0003198Myopathy0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0003198HP:0003198Myopathy0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional85
HP:0003198HP:0003198Myopathy0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0003198HP:0003198Myopathy0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0003198HP:0003198Myopathy0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0003198HP:0003198Myopathy0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0003198HP:0003198Myopathy0VAMP1 CL E G H684312642OMIM:618323Myasthenic syndrome, congenital, 25, presynaptic.2
HP:0003198HP:0003198Myopathy0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003198HP:0003198Myopathy0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0003198HP:0003198Myopathy0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0003198HP:0003198Myopathy0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0003198HP:0003198Myopathy0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0003198HP:0003198Myopathy0VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0003198HP:0003198Myopathy0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0003198HP:0003198Myopathy0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0003198HP:0003198Myopathy0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003198HP:0003198Myopathy0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0003198HP:0003198Myopathy0XDH CL E G H749812805OMIM:278300Xanthinuria, type I.79
HP:0003198HP:0003198Myopathy0XK CL E G H750412811OMIM:300842Mcleod syndrome.8
HP:0003198HP:0003198Myopathy0YARS2 CL E G H5106724249ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent45
HP:0003198HP:0003198Myopathy0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040281 - Very frequent17
HP:0003198HP:0003198Myopathy0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0003198HP:0003458EMG: myopathic abnormalities1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0003198HP:0003458EMG: myopathic abnormalities1ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0003198HP:0003458EMG: myopathic abnormalities1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent96
HP:0003198HP:0003458EMG: myopathic abnormalities1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0003198HP:0003458EMG: myopathic abnormalities1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0003198HP:0003458EMG: myopathic abnormalities1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0003198HP:0003715Myofibrillar myopathy1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0003198HP:0003458EMG: myopathic abnormalities1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003198HP:0003458EMG: myopathic abnormalities1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0003198HP:0003458EMG: myopathic abnormalities1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0003198HP:0003715Myofibrillar myopathy1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0003198HP:0003756Skeletal myopathy1ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040282 - Frequent50
HP:0003198HP:0003458EMG: myopathic abnormalities1ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040282 - Frequent50
HP:0003198HP:0003458EMG: myopathic abnormalities1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0003198HP:0003458EMG: myopathic abnormalities1ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0003198HP:0003715Myofibrillar myopathy1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0003198HP:0003458EMG: myopathic abnormalities1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0003198HP:0003458EMG: myopathic abnormalities1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0003198HP:0003458EMG: myopathic abnormalities1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0003198HP:0008978Necrotizing myopathy1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0003198HP:0003458EMG: myopathic abnormalities1CASQ1 CL E G H8441512ORPHA:2593Tubular aggregate myopathyHP:0040281 - Very frequent5
HP:0003198HP:0003458EMG: myopathic abnormalities1CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0003198HP:0009071Inflammatory myopathy1CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0003198HP:0003458EMG: myopathic abnormalities1CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0003198HP:0003458EMG: myopathic abnormalities1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0003198HP:0003789Minicore myopathy1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0003198HP:0003458EMG: myopathic abnormalities1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0003198HP:0003458EMG: myopathic abnormalities1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0003198HP:0003458EMG: myopathic abnormalities1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0003198HP:0003458EMG: myopathic abnormalities1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0003198HP:0003458EMG: myopathic abnormalities1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0003198HP:0003458EMG: myopathic abnormalities1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0003198HP:0003458EMG: myopathic abnormalities1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040281 - Very frequent65
HP:0003198HP:0003458EMG: myopathic abnormalities1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent65
HP:0003198HP:0003458EMG: myopathic abnormalities1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003198HP:0003458EMG: myopathic abnormalities1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0003198HP:0003458EMG: myopathic abnormalities1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040281 - Very frequent442
HP:0003198HP:0003458EMG: myopathic abnormalities1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent442
HP:0003198HP:0003458EMG: myopathic abnormalities1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040281 - Very frequent478
HP:0003198HP:0003458EMG: myopathic abnormalities1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent478
HP:0003198HP:0003458EMG: myopathic abnormalities1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040281 - Very frequent702
HP:0003198HP:0003458EMG: myopathic abnormalities1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent702
HP:0003198HP:0003756Skeletal myopathy1COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040283 - Occasional89
HP:0003198HP:0003458EMG: myopathic abnormalities1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0003198HP:0003458EMG: myopathic abnormalities1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040282 - Frequent46
HP:0003198HP:0003458EMG: myopathic abnormalities1CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0003198HP:0003458EMG: myopathic abnormalities1DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0003198HP:0003458EMG: myopathic abnormalities1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003198HP:0003458EMG: myopathic abnormalities1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0003198HP:0003458EMG: myopathic abnormalities1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0003198HP:0003715Myofibrillar myopathy1DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1HP:0040283 - Occasional103
HP:0003198HP:0003458EMG: myopathic abnormalities1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0003198HP:0003458EMG: myopathic abnormalities1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003198HP:0003458EMG: myopathic abnormalities1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0003198HP:0003458EMG: myopathic abnormalities1DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0003198HP:0003458EMG: myopathic abnormalities1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0003198HP:0003458EMG: myopathic abnormalities1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0003198HP:0003458EMG: myopathic abnormalities1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0003198HP:0003458EMG: myopathic abnormalities1FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0003198HP:0003715Myofibrillar myopathy1FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0003198HP:0003458EMG: myopathic abnormalities1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0003198HP:0003458EMG: myopathic abnormalities1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0003198HP:0003458EMG: myopathic abnormalities1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003198HP:0003458EMG: myopathic abnormalities1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0003198HP:0003715Myofibrillar myopathy1FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant.197
HP:0003198HP:0003458EMG: myopathic abnormalities1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0003198HP:0003789Minicore myopathy1FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0003198HP:0003458EMG: myopathic abnormalities1FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0003198HP:0003458EMG: myopathic abnormalities1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0003198HP:0003458EMG: myopathic abnormalities1GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003198HP:0003458EMG: myopathic abnormalities1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0003198HP:0003458EMG: myopathic abnormalities1GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040282 - Frequent173
HP:0003198HP:0003458EMG: myopathic abnormalities1GNE CL E G H1002023657OMIM:605820Nonaka myopathy.173
HP:0003198HP:0003458EMG: myopathic abnormalities1GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003198HP:0003756Skeletal myopathy1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0003198HP:0003756Skeletal myopathy1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0003198HP:0003458EMG: myopathic abnormalities1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent31
HP:0003198HP:0003458EMG: myopathic abnormalities1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent5
HP:0003198HP:0003458EMG: myopathic abnormalities1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003198HP:0003458EMG: myopathic abnormalities1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent80
HP:0003198HP:0003715Myofibrillar myopathy1KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0003198HP:0003458EMG: myopathic abnormalities1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent13
HP:0003198HP:0003458EMG: myopathic abnormalities1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0003198HP:0003458EMG: myopathic abnormalities1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040281 - Very frequent3
HP:0003198HP:0003458EMG: myopathic abnormalities1LAMP2 CL E G H39206501OMIM:300257Danon disease.211
HP:0003198HP:0003458EMG: myopathic abnormalities1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0003198HP:0003458EMG: myopathic abnormalities1LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0003198HP:0003715Myofibrillar myopathy1LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0003198HP:0003458EMG: myopathic abnormalities1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003198HP:0003458EMG: myopathic abnormalities1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003198HP:0003458EMG: myopathic abnormalities1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0003198HP:0003458EMG: myopathic abnormalities1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0003198HP:0003458EMG: myopathic abnormalities1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0003198HP:0003458EMG: myopathic abnormalities1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0003198HP:0003458EMG: myopathic abnormalities1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0003198HP:0003458EMG: myopathic abnormalities1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003198HP:0003458EMG: myopathic abnormalities1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0003198HP:0003458EMG: myopathic abnormalities1MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0003198HP:0003458EMG: myopathic abnormalities1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0003198HP:0003458EMG: myopathic abnormalities1MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0003198HP:0003789Minicore myopathy1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0003198HP:0003458EMG: myopathic abnormalities1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040283 - Occasional1269
HP:0003198HP:0003458EMG: myopathic abnormalities1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040282 - Frequent1269
HP:0003198HP:0003458EMG: myopathic abnormalities1MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage.1269
HP:0003198HP:0003458EMG: myopathic abnormalities1MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive.1269
HP:0003198HP:0003458EMG: myopathic abnormalities1MYH7 CL E G H46257577OMIM:181430Scapuloperoneal myopathy, myh7-related.1269
HP:0003198HP:0003458EMG: myopathic abnormalities1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0003198HP:0003458EMG: myopathic abnormalities1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0003198HP:0003458EMG: myopathic abnormalities1MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040282 - Frequent75
HP:0003198HP:0003715Myofibrillar myopathy1MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0003198HP:0003458EMG: myopathic abnormalities1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent217
HP:0003198HP:0003458EMG: myopathic abnormalities1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0003198HP:0003458EMG: myopathic abnormalities1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent745
HP:0003198HP:0003458EMG: myopathic abnormalities1NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0003198HP:0003458EMG: myopathic abnormalities1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0003198HP:0003458EMG: myopathic abnormalities1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003198HP:0003458EMG: myopathic abnormalities1NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0003198HP:0003458EMG: myopathic abnormalities1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0003198HP:0003458EMG: myopathic abnormalities1ORAI1 CL E G H8487625896ORPHA:2593Tubular aggregate myopathyHP:0040281 - Very frequent19
HP:0003198HP:0003458EMG: myopathic abnormalities1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0003198HP:0003458EMG: myopathic abnormalities1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0003198HP:0003756Skeletal myopathy1PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040281 - Very frequent65
HP:0003198HP:0003458EMG: myopathic abnormalities1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003198HP:0003458EMG: myopathic abnormalities1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003198HP:0003458EMG: myopathic abnormalities1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003198HP:0003458EMG: myopathic abnormalities1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0003198HP:0003458EMG: myopathic abnormalities1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0003198HP:0003458EMG: myopathic abnormalities1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0003198HP:0003715Myofibrillar myopathy1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0003198HP:0003458EMG: myopathic abnormalities1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0003198HP:0003458EMG: myopathic abnormalities1RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003198HP:0003458EMG: myopathic abnormalities1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0003198HP:0003458EMG: myopathic abnormalities1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0003198HP:0003789Minicore myopathy1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0003198HP:0003458EMG: myopathic abnormalities1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0003198HP:0003789Minicore myopathy1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0003198HP:0008978Necrotizing myopathy1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0003198HP:0003789Minicore myopathy1RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0003198HP:0003458EMG: myopathic abnormalities1SAR1B CL E G H5112810535ORPHA:71Chylomicron retention diseaseHP:0040283 - Occasional8
HP:0003198HP:0003458EMG: myopathic abnormalities1SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040283 - Occasional263
HP:0003198HP:0003458EMG: myopathic abnormalities1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0003198HP:0003756Skeletal myopathy1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0003198HP:0003756Skeletal myopathy1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0003198HP:0003756Skeletal myopathy1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0003198HP:0003756Skeletal myopathy1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0003198HP:0003789Minicore myopathy1SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0003198HP:0003458EMG: myopathic abnormalities1SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D.132
HP:0003198HP:0003458EMG: myopathic abnormalities1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003198HP:0003458EMG: myopathic abnormalities1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0003198HP:0003458EMG: myopathic abnormalities1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0003198HP:0003458EMG: myopathic abnormalities1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003198HP:0003458EMG: myopathic abnormalities1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0003198HP:0003458EMG: myopathic abnormalities1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0003198HP:0003458EMG: myopathic abnormalities1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0003198HP:0003458EMG: myopathic abnormalities1SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0003198HP:0003458EMG: myopathic abnormalities1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0003198HP:0003458EMG: myopathic abnormalities1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003198HP:0003458EMG: myopathic abnormalities1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0003198HP:0003458EMG: myopathic abnormalities1SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0003198HP:0003458EMG: myopathic abnormalities1STIM1 CL E G H678611386ORPHA:2593Tubular aggregate myopathyHP:0040281 - Very frequent31
HP:0003198HP:0003458EMG: myopathic abnormalities1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0003198HP:0003458EMG: myopathic abnormalities1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0003198HP:0003458EMG: myopathic abnormalities1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0003198HP:0003458EMG: myopathic abnormalities1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0003198HP:0003458EMG: myopathic abnormalities1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0003198HP:0003756Skeletal myopathy1TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0003198HP:0003458EMG: myopathic abnormalities1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0003198HP:0003458EMG: myopathic abnormalities1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0003198HP:0003458EMG: myopathic abnormalities1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0003198HP:0003458EMG: myopathic abnormalities1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0003198HP:0003458EMG: myopathic abnormalities1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0003198HP:0003458EMG: myopathic abnormalities1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0003198HP:0003458EMG: myopathic abnormalities1TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathyHP:0040282 - Frequent37
HP:0003198HP:0003458EMG: myopathic abnormalities1TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0003198HP:0003458EMG: myopathic abnormalities1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent54
HP:0003198HP:0003458EMG: myopathic abnormalities1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040281 - Very frequent108
HP:0003198HP:0003458EMG: myopathic abnormalities1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0003198HP:0003458EMG: myopathic abnormalities1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0003198HP:0003458EMG: myopathic abnormalities1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003198HP:0003789Minicore myopathy1TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0003198HP:0003458EMG: myopathic abnormalities1TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040281 - Very frequent4
HP:0003198HP:0003756Skeletal myopathy1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040281 - Very frequent
HP:0003198HP:0003458EMG: myopathic abnormalities1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040282 - Frequent7128
HP:0003198HP:0008978Necrotizing myopathy1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040282 - Frequent7128
HP:0003198HP:0003458EMG: myopathic abnormalities1TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 10.7128
HP:0003198HP:0003715Myofibrillar myopathy1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003198HP:0003458EMG: myopathic abnormalities1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040282 - Frequent7128
HP:0003198HP:0003458EMG: myopathic abnormalities1TTN CL E G H727312403OMIM:600334Tibial muscular dystrophy, tardive.7128
HP:0003198HP:0003458EMG: myopathic abnormalities1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0003198HP:0003458EMG: myopathic abnormalities1TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003198HP:0009071Inflammatory myopathy1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040282 - Frequent35
HP:0003198HP:0003458EMG: myopathic abnormalities1UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0003198HP:0003458EMG: myopathic abnormalities1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0003198HP:0003458EMG: myopathic abnormalities1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003198HP:0008978Necrotizing myopathy1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0003198HP:0003458EMG: myopathic abnormalities1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0003198HP:0003458EMG: myopathic abnormalities1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent63
HP:0003198HP:0003458EMG: myopathic abnormalities1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003198HP:0003458EMG: myopathic abnormalities1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0003198HP:0003787Type 1 and type 2 muscle fiber minicore regions2RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0003198HP:0003787Type 1 and type 2 muscle fiber minicore regions2SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144


Genes (330) :ABCC9 ABHD5 ACACA ACAD9 ACADM ACADS ACTA1 ACTC1 ACTN2 ADGRG6 ADSS1 AGK AGL AGRN AK9 AKT1 ALDOA ALG14 ALG2 ALPL AMPD1 ANKRD1 ANO5 AP1S2 ATP6 B3GALNT2 B4GALT1 BAG3 BAG5 BAZ1B BCL7B BIN1 BSCL2 BUD23 C1QBP CACNA1S CAP2 CAPN3 CASQ1 CASZ1 CAV3 CCDC174 CDON CENPF CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHST14 CISD2 CLIP2 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLQ COMP COX1 COX2 COX3 CPT2 CRPPA CRYAB CSRP3 CTNS CYTB DES DHX16 DISP1 DLL1 DMD DNA2 DNAJB6 DNAJC30 DNM1L DNM2 DOK7 DOLK DPAGT1 DPM3 DSE DSG2 DSP DYSF EIF4H ELN EMD EPG5 ERGIC1 FGF8 FGFR1 FHL1 FHL2 FKBP14 FKBP6 FKRP FKTN FLAD1 FLNC FOXH1 FXR1 G6PC3 GABRD GAS1 GATAD1 GCLC GFER GFPT1 GIPC1 GK GLI2 GMPPB GNE GTF2I GTF2IRD1 GTF2IRD2 GYG1 HADHA HADHB HAND2 HNRNPA1 HNRNPA2B1 HNRNPDL HSPG2 INPP5K ISCU JAG2 KBTBD13 KCNAB2 KLHL40 KLHL41 KLHL9 LAMA4 LAMB2 LAMP2 LARGE1 LDB3 LIMK1 LIPE LMNA LMNB2 LMOD3 LRP12 LRP4 LUZP1 MAN2B1 MEGF10 METTL27 MGME1 MLXIPL MMP23B MSTO1 MTAP MTMR14 MTTP MUSK MYBPC1 MYBPC3 MYF6 MYH14 MYH2 MYH6 MYH7 MYMK MYMX MYO18B MYO9A MYOD1 MYOT MYPN NALCN NARS2 NCF1 ND1 ND2 ND4 ND4L ND5 ND6 NDUFA11 NDUFAF1 NDUFAF4 NDUFB3 NDUFS2 NEB NEFH NEFL NEXN NODAL NUBPL OPA1 ORAI1 PABPN1 PANK2 PDPN PGAM2 PGK1 PLEC PLN PLOD1 PNPLA2 POLG POLG2 POLRMT POMGNT1 POMT1 POMT2 PPARG PPCS PRDM16 PRKAG2 PRKCZ PSEN1 PSEN2 PTCH1 PTEN PUS1 RAF1 RAPSN RBM20 RERE RET RFC2 RILPL1 RMND1 RNR1 RRM2B RYR1 SAR1B SCN4A SCN5A SCO2 SDHA SDHAF1 SDHB SDHD SELENON SGCA SGCB SGCD SGCG SHH SIL1 SIX3 SKI SLC18A3 SLC22A5 SLC25A1 SLC25A3 SLC25A4 SLC5A7 SNAP25 SPEN SQSTM1 STIM1 STX1A SUFU SVIL SYNE1 SYNE2 SYT2 TAF1A TAFAZZIN TANGO2 TBCE TBL2 TCAP TDGF1 TGIF1 TIA1 TK2 TKFC TMEM270 TMEM43 TMPO TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TPI1 TPM1 TPM2 TPM3 TRAPPC11 TRIM32 TRIP4 TRMU TRNC TRNE TRNF TRNH TRNI TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TTN TWNK TXNRD2 UBA1 UBE4B UNC45B UNC80 VAMP1 VCL VCP VMA21 VPS13A VPS37D VWA1 WFS1 XDH XK YARS2 ZBTB20 ZIC2

Diseases (264) :ORPHA:154 OMIM:275630 ORPHA:98907 OMIM:613933 ORPHA:99901 ORPHA:42 OMIM:201470 ORPHA:26792 ORPHA:171439 ORPHA:171433 OMIM:161800 ORPHA:97244 ORPHA:171436 ORPHA:97240 OMIM:616503 OMIM:617030 ORPHA:1369 OMIM:212350 ORPHA:366 OMIM:232400 ORPHA:98913 ORPHA:98914 ORPHA:744 ORPHA:57 OMIM:611881 ORPHA:353327 OMIM:241510 OMIM:615511 ORPHA:206549 OMIM:611307 ORPHA:85329 ORPHA:104 OMIM:535000 OMIM:551500 ORPHA:588 OMIM:607091 OMIM:612954 ORPHA:904 ORPHA:169189 OMIM:255200 ORPHA:363400 OMIM:617713 OMIM:170400 ORPHA:423 OMIM:618129 ORPHA:2593 ORPHA:88635 ORPHA:1606 OMIM:123320 ORPHA:488650 OMIM:614321 OMIM:616816 ORPHA:280200 OMIM:243605 OMIM:610687 ORPHA:276435 OMIM:602541 OMIM:616313 OMIM:616314 OMIM:605809 ORPHA:2953 ORPHA:3463 ORPHA:610 OMIM:616471 ORPHA:75840 OMIM:158810 ORPHA:166002 OMIM:603034 ORPHA:98915 ORPHA:750 ORPHA:550 OMIM:540000 ORPHA:228305 ORPHA:370980 ORPHA:399058 OMIM:608810 OMIM:219800 OMIM:601419 OMIM:618733 ORPHA:352470 ORPHA:34516 ORPHA:98673 OMIM:160150 OMIM:618992 OMIM:612937 OMIM:253601 OMIM:606768 OMIM:310300 ORPHA:98863 OMIM:242840 OMIM:208100 OMIM:300696 OMIM:300695 OMIM:614557 ORPHA:300179 OMIM:606612 ORPHA:272 OMIM:255100 OMIM:609524 OMIM:614065 OMIM:618823 OMIM:618822 OMIM:612541 OMIM:230450 ORPHA:33574 OMIM:613076 OMIM:618940 OMIM:307030 ORPHA:602 OMIM:605820 ORPHA:263297 OMIM:609015 ORPHA:746 OMIM:615424 ORPHA:52430 OMIM:615422 OMIM:609115 ORPHA:800 ORPHA:559 OMIM:255125 OMIM:619566 OMIM:609273 OMIM:615348 ORPHA:399081 OMIM:300257 OMIM:608840 OMIM:609452 OMIM:615980 ORPHA:98853 ORPHA:98855 ORPHA:280365 ORPHA:157973 ORPHA:2348 OMIM:610140 ORPHA:79087 OMIM:164310 ORPHA:309282 OMIM:614399 ORPHA:352447 ORPHA:502423 OMIM:112250 ORPHA:14 OMIM:618524 OMIM:115197 ORPHA:397744 OMIM:605637 ORPHA:59135 ORPHA:437572 OMIM:608358 OMIM:255160 OMIM:181430 OMIM:254940 ORPHA:1358 OMIM:616549 OMIM:618975 ORPHA:266 ORPHA:98911 OMIM:182920 OMIM:609200 ORPHA:371364 OMIM:616239 ORPHA:551 OMIM:618236 OMIM:618234 OMIM:618237 OMIM:618246 ORPHA:399103 OMIM:256030 OMIM:616924 ORPHA:99939 OMIM:618242 ORPHA:1215 OMIM:125250 OMIM:612782 ORPHA:270 OMIM:234200 OMIM:261670 ORPHA:713 OMIM:300653 ORPHA:257 ORPHA:254361 ORPHA:1900 OMIM:610717 ORPHA:98908 ORPHA:565612 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:619743 ORPHA:86812 ORPHA:79083 OMIM:261740 ORPHA:109 ORPHA:2598 OMIM:162300 OMIM:619790 OMIM:614922 OMIM:613077 ORPHA:597 ORPHA:424107 OMIM:619542 OMIM:255320 ORPHA:71 ORPHA:682 OMIM:613345 ORPHA:684 OMIM:604377 ORPHA:3208 ORPHA:100093 OMIM:602771 OMIM:608099 ORPHA:119 ORPHA:353 OMIM:248800 OMIM:212140 ORPHA:91130 OMIM:615418 OMIM:609283 ORPHA:603 OMIM:617158 OMIM:612783 OMIM:160565 OMIM:185070 OMIM:619040 OMIM:302060 ORPHA:480864 ORPHA:2323 OMIM:609560 ORPHA:254875 ORPHA:98902 OMIM:605355 OMIM:608423 OMIM:615512 OMIM:609284 ORPHA:369847 ORPHA:369840 OMIM:254110 ORPHA:1878 ORPHA:486815 ORPHA:254864 ORPHA:2596 OMIM:545000 OMIM:551000 ORPHA:178464 OMIM:608807 OMIM:603689 OMIM:611705 ORPHA:609 OMIM:600334 OMIM:609286 ORPHA:1145 OMIM:301830 OMIM:619178 OMIM:618323 ORPHA:329478 OMIM:167320 OMIM:310440 ORPHA:2388 OMIM:619216 OMIM:278300 OMIM:300842 ORPHA:3042
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.