National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Goldenhar Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84740

code

C84740

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

DEFINITION

A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97151

label

Goldenhar Syndrome

NICHD_Hierarchy_Term

Goldenhar Syndrome

Preferred_Name

Goldenhar Syndrome

prefixIRI

C84740

prefLabel

Goldenhar Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0265240

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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http://purl.bioontology.org/ontology/MESH/D006053 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_2907 Human Disease Ontology 123 LOOM