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AttributesValues
rdf:type
rdfs:label
  • Rubinstein-Taybi Syndrome
equivalentClass
Has_NICHD_Parent
Concept_In_Subset
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
is someValuesFrom of
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