Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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obsolete Abnormality of skeletal muscles (HP:0040290)help
..Starting node
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Skeletal muscle steatosis (HP:0040291)help
Term ID: 40291
Name: Skeletal muscle steatosis
Synonym: Steatosis of skeletal muscle; Steatosis of skeletal muscles
Definition:
Comments:
Reference: HP:0040291
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSkeletal muscle atrophy (HP:0003202) help
..expandSkeletal muscle fibrosis (HP:0030951) help
..expandSkeletal muscle hypertrophy (HP:0003712) 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:0040291HP:0040291Skeletal muscle steatosis0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent


Genes (1) :COA8

Diseases (1) :ORPHA:436271
 

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