Gabriele-de Vries Syndrome

Preferred Label : Gabriele-de Vries Syndrome;

NCIt synonyms : GADEVS;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities.;

NCI Metathesaurus CUI : CL761542;

Details

Origin ID

C165531;

UMLS CUI

C4479652;

Currated CISMeF NLP mapping
- Gabriele-de Vries syndrome [ORDO Disease]
- Gabriele-de Vries syndrome (disorder) [SNOMED CT concept]
- Gabriele-de vries syndrome [OMIM Phenotype]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gabriele-de Vries syndrome [ORDO Disease]
- Gabriele-de Vries syndrome (disorder) [SNOMED CT concept]
- Gabriele-de vries syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- YY1 Gene [NCIt concept]
- YY1 wt Allele [NCIt concept]
disease_mapped_to_gene
- YY1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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