OBO ID: DOID:0081297
Term Name: oculopharyngodistal myopathy 1 Search Ontology:
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 )
Relationships
is a type of:
OTHER oculopharyngodistal myopathy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LRP12 Oculopharyngodistal myopathy 1 164310
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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