Search Ontology:
Human Disease

oculopharyngodistal myopathy 3

Term ID
DOID:0081299
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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