Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
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Preferred Name

Escobar Syndrome
Synonyms
ID

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

A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
isDefinedBy

A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
label

Escobar Syndrome
prefixIRI

Thesaurus:Escobar_Syndrome
prefLabel

Escobar Syndrome
subClassOf

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