OBO ID: DOID:0081299
Term Name: oculopharyngodistal myopathy 3 Search Ontology:
Synonyms:
Definition: An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/33693509/
References:
Ontology: Human Disease   ( DOID:0081299 )
OTHER oculopharyngodistal myopathy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NOTCH2NLC Oculopharyngodistal myopathy 3
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None