Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
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Myopathy (HP:0003198)help
..Starting node
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Skeletal myopathy (HP:0003756)help
Term ID: 3756
Name: Skeletal myopathy
Synonym:
Definition:
Comments:
Reference: HP:0003756
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEMG: myopathic abnormalities (HP:0003458) help
..expandInflammatory myopathy (HP:0009071) help
..expandMinicore myopathy (HP:0003789) help
..expandMyofibrillar myopathy (HP:0003715) help
..expandNecrotizing myopathy (HP:0008978) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003756HP:0003756Skeletal myopathy0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0003756HP:0003756Skeletal myopathy0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0003756HP:0003756Skeletal myopathy0MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0003756HP:0003756Skeletal myopathy0SDHA CL E G H63893208ORPHA1250310680600857
HP:0003756HP:0003756Skeletal myopathy0SDHAF1 CL E G H6440963208ORPHA17733867612848
HP:0003756HP:0003756Skeletal myopathy0SDHB CL E G H63903208ORPHA1124910681185470
HP:0003756HP:0003756Skeletal myopathy0SDHD CL E G H63923208ORPHA168610683602690
HP:0003756HP:0003756Skeletal myopathy0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM111577300394
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (9) :HADHA HADHB MT-TE SDHA SDHAF1 SDHB SDHD TAZ TRNE

Diseases (4) :746 3208 302060 2596
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.