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Human Disease
oculopharyngodistal myopathy 1
- Term ID
- DOID:0081297
- Synonyms
-
- Definition
- An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/31332380/
- References
- Ontology
- Human Disease ( DOID:0081297 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| LRP12 | Oculopharyngodistal myopathy 1 | oculopharyngodistal myopathy 1 | 164310 |
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