loading...| Preferred Name |
oculopharyngodistal myopathy 3 |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0081299 |
| database_cross_reference |
OMIM:619473 |
| 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. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0081299 |
| label |
oculopharyngodistal myopathy 3 |
| notation |
DOID:0081299 |
| prefLabel |
oculopharyngodistal myopathy 3 |
| subClassOf |