About: Rubinstein-Taybi Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Rubinstein-Taybi Syndrome
equivalentClass	nodeID://b638143
Has_NICHD_Parent	Genetic Disorder Developmental Disabilities
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Rubinstein-Taybi Syndrome
UMLS_CUI	C0035934
Contributing_Source	NICHD
Legacy_Concept_Name	Rubinstein_Taybi_Syndrome
FULL_SYN	Rubinstein-Taybi SyndromePTNCI Rubinstein-Taybi SyndromePTNICHD
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.NCI
code	C75466
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0019298
is someValuesFrom of	nodeID://b654785
is sameAs of	Rubinstein-Taybi Syndrome

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