National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Fraser Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118436
code	C118436
DEFINITION	A rare, autosomal recessive inherited disorder caused by mutations in the FRAS1, FREM2, or GRIP1 genes. It is characterized by the presence of cryptophthalmos, cutaneous syndactyly, and genitourinary abnormalities.
FULL_SYN	Cryptophthalmos-Syndactyly Syndrome
label	Fraser Syndrome
NCI_META_CUI	CL479890
Preferred_Name	Fraser Syndrome
prefixIRI	C118436
prefLabel	Fraser Syndrome
Semantic_Type	Disease or Syndrome
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/D058497	Medical Subject Headings	LOOM
	http://purl.obolibrary.org/obo/DOID_0090001	Human Disease Ontology 123	LOOM