Search Ontology:
Human Disease
congenital myopathy 19
- Term ID
- DOID:0081351
- Synonyms
-
- Definition
- A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/31092906/
- References
- Ontology
- Human Disease ( DOID:0081351 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models