National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Oculopharyngeal Muscular Dystrophy
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84942
code	C84942
DEFINITION	An autosomal dominant inherited disorder caused by mutations in the PABPN1 gene. It is characterized by late-onset eyelid ptosis and dysphagia. Patients have a positive family history involving at least two generations.
label	Oculopharyngeal Muscular Dystrophy
Preferred_Name	Oculopharyngeal Muscular Dystrophy
prefixIRI	C84942
prefLabel	Oculopharyngeal Muscular Dystrophy
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0244252
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84910

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_11719	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/OMIM/164300	Online Mendelian Inheritance in Man	LOOM