Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
Preferred Name

Muenke Syndrome

Synonyms
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muenke_Syndrome

DEFINITION

A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes.

label

Muenke Syndrome

prefixIRI

Thesaurus:Muenke_Syndrome

prefLabel

Muenke Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder

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