Search Ontology:
Human Disease

reducing body myopathy 1A

Term ID
DOID:0080090
Synonyms
Definition
A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/17099882/
References
Ontology
Human Disease   ( DOID:0080090 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models