National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Bardet-Biedl Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118632
ALT_DEFINITION	An autosomal recessive syndrome caused by mutations in at least fourteen different genes, called BBS genes, which is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills.
code	C118632
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259
Contributing_Source	NICHD
DEFINITION	An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills.
FULL_SYN	BBS
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193
label	Bardet-Biedl Syndrome
NICHD_Hierarchy_Term	Bardet-Biedl Syndrome
Preferred_Name	Bardet-Biedl Syndrome
prefixIRI	C118632
prefLabel	Bardet-Biedl Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0752166
subClassOf	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/D020788	Medical Subject Headings	LOOM
	http://purl.obolibrary.org/obo/DOID_1935	Human Disease Ontology 123	LOOM