Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014

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

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C101039	BERO	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Escobar_Syndrome	PEDTERM	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00903	SNMI	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10085738	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/80773006	SNOMEDCT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101039	NCIT	LOOM