OBO ID: DOID:0081298
Term Name: oculopharyngodistal myopathy 2 Search Ontology:
Synonyms:
Definition: An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/32413282/
References:
Ontology: Human Disease   ( DOID:0081298 )
OTHER oculopharyngodistal myopathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GIPC1 Oculopharyngodistal myopathy 2 618940
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None