FG Syndrome Type 1

Preferred Label : FG Syndrome Type 1;

NCIt synonyms : FGS1; Opitz-Kaveggia Syndrome;

NCIt definition : An X-linked recessive mental retardation syndrome caused by mutation(s) in the MED12 gene, encoding mediator of RNA polymerase II transcription subunit 12.;

Détails

Origin ID

C171270;

UMLS CUI

C5399762;

Currated CISMeF NLP mapping
- FG syndrome type 1 [ORDO Disease]
- FG syndrome type 1 (disorder) [SNOMED CT concept]
- Opitz-Kaveggia syndrome [MeSH concept]
- Opitz-Kaveggia syndrome [MeSH Supplementary Concept]
- Opitz-kaveggia syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FG syndrome type 1 (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- FG syndrome [DO Concept]
- FG syndrome [ICD-11 More detail]
- FG syndrome [ORDO Disease]
- FG syndrome [Disease (Nov.)]
- FG syndrome (disorder) [SNOMED CT concept]
- fg syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- MED12 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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