National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Waardenburg Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85222
code	C85222
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 rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.
FULL_SYN	Waardenburg's Syndrome
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
label	Waardenburg Syndrome
NICHD_Hierarchy_Term	Waardenburg Syndrome
Preferred_Name	Waardenburg Syndrome
prefixIRI	C85222
prefLabel	Waardenburg Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C3266898
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_9258	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/MESH/D014849	Medical Subject Headings	LOOM