OBO ID: DOID:0081299 |
Term Name: | oculopharyngodistal myopathy 3 | Search Ontology: | |
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Synonyms: |
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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 |
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NOTCH2NLC | Oculopharyngodistal myopathy 3 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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