Search Ontology:
Human Disease

congenital myopathy 25

Term ID
DOID:0061256
Synonyms
Definition
A congenital myopathy characterized by prominent facial, ocular, and bulbar features that has_material_basis_in homozygous mutation in the JPH1 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/39209426/
References
Ontology
Human Disease   ( DOID:0061256 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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