Oculopharyngeal Muscular Dystrophy

Preferred Label : Oculopharyngeal Muscular Dystrophy;

NCIt synonyms : OPMD;

NCIt definition : An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.;

Details

Origin ID

C84942;

UMLS CUI

C0270952;

Automatic exact mappings (from CISMeF team)
- poly(A) binding protein nuclear 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Oculopharyngeal dystrophy [MedDRA Preferred Term]
- Oculopharyngeal muscular dystrophy [PASCAL descriptor]
- Oculopharyngeal muscular dystrophy [ICD-11 More detail]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
- Oculopharyngeal muscular dystrophy (disorder) [SNOMED CT concept]
- Oculopharyngeal muscular dystrophy 1 [OMIM Phenotype]
- muscular dystrophy, oculopharyngeal [MeSH Descriptor]
- muscular dystrophy, oculopharyngeal [MeSH concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]
- oculopharyngeal muscular dystrophy [DO Concept]
- oculopharyngeal muscular dystrophy [SNOMED Notion]
DO Cross reference
- oculopharyngeal muscular dystrophy [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculopharyngeal dystrophy [MedDRA Preferred Term]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
- Oculopharyngeal muscular dystrophy [PASCAL descriptor]
- Oculopharyngeal muscular dystrophy (disorder) [SNOMED CT concept]
- Oculopharyngeal muscular dystrophy 1 [OMIM Phenotype]
- muscular dystrophy, oculopharyngeal [MeSH concept]
- muscular dystrophy, oculopharyngeal [MeSH Descriptor]
- oculopharyngeal muscular dystrophy [DO Concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]
- oculopharyngeal muscular dystrophy [SNOMED Notion]
Validated automatic mappings to NTBT
- muscular dystrophy [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- PABPN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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