National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	LEOPARD Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84820
code	C84820
DEFINITION	A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.
label	LEOPARD Syndrome
Preferred_Name	LEOPARD Syndrome
prefixIRI	C84820
prefLabel	LEOPARD Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0175704
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
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D044542	Medical Subject Headings	LOOM