National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Rubinstein-Taybi Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75466
code	C75466
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 genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.
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	Rubinstein-Taybi Syndrome
Legacy_Concept_Name	Rubinstein_Taybi_Syndrome
NICHD_Hierarchy_Term	Rubinstein-Taybi Syndrome
Preferred_Name	Rubinstein-Taybi Syndrome
prefixIRI	C75466
prefLabel	Rubinstein-Taybi Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0035934
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35561

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_1933	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/MESH/D012415	Medical Subject Headings	LOOM