Rubinstein-Taybi Syndrome Type 2

Preferred Label : Rubinstein-Taybi Syndrome Type 2;

NCIt synonyms : RSTS2;

NCIt definition : Rubinstein-Taybi syndrome caused by a mutation in the EP300 gene on chromosome 22q13, which presents with a mild phenotype associated with less severe facial dysmorphism and better cognitive function.;

NCI Metathesaurus CUI : CL554408;

Details

Origin ID

C153291;

UMLS CUI

C3150941;

Currated CISMeF NLP mapping
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ORDO Disease]
- Rubinstein-taybi syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rubinstein-taybi syndrome 2 [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
- EP300 Gene [NCIt concept]
related_to_genetic_biomarker
- EP300 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients