loading...| Preferred Name |
Rubinstein-Taybi Syndrome |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C75466 |
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| code |
C75466 |
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| Contributing_Source |
Cellosaurus CCPS GDC NICHD |
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| 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. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C177281 http://purl.obolibrary.org/obo/NCIT_C165258 |
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| Is_Value_For_GDC_Property | ||
| label |
Rubinstein-Taybi Syndrome |
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| Legacy Concept Name |
Rubinstein_Taybi_Syndrome |
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| Maps_To |
Rubinstein-Taybi Syndrome |
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| Preferred_Name |
Rubinstein-Taybi Syndrome |
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| prefixIRI |
NCIT:C75466 |
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| prefLabel |
Rubinstein-Taybi Syndrome |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0035934 |
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| subClassOf |