Rubinstein-Taybi Syndrome Type 1

Preferred Label : Rubinstein-Taybi Syndrome Type 1;

NCIt synonyms : RSTS1;

NCIt definition : The most common form of Rubinstein-Taybi syndrome, caused by a mutation in the CREB binding protein (CREBBP) gene.;

NCI Metathesaurus CUI : CL554407;

Details

Origin ID

C153290;

UMLS CUI

C4551859;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CREBBP Gene [NCIt concept]
related_to_genetic_biomarker
- CREBBP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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