National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Cornelia De Lange Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75016
code	C75016
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 syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89330 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
label	Cornelia De Lange Syndrome
Legacy_Concept_Name	Cornelia_De_Lange_Syndrome
NICHD_Hierarchy_Term	Cornelia De Lange Syndrome
Preferred_Name	Cornelia De Lange Syndrome
prefixIRI	C75016
prefLabel	Cornelia De Lange Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0270972
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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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_11725	Human Disease Ontology 123	LOOM