Oculopharyngodistal Myopathy 2

Preferred Label : Oculopharyngodistal Myopathy 2;

NCIt synonyms : OPDM2;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course.;

NCI Metathesaurus CUI : CL1640244;

Details

Origin ID

C190873;

UMLS CUI

C5394548;

Currated CISMeF NLP mapping
- Oculopharyngodistal myopathy 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculopharyngodistal myopathy 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GIPC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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