Trichothiodystrophy 2, Photosensitive

Preferred Label : Trichothiodystrophy 2, Photosensitive;

NCIt synonyms : TTD2;

NCIt definition : An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC3 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPB.;

Détails

Origin ID

C173103;

UMLS CUI

C4225344;

Currated CISMeF NLP mapping
- Trichothiodystrophy 2, photosensitive [OMIM Phenotype]
- photosensitive trichothiodystrophy 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 2, photosensitive [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ERCC3 Gene [NCIt concept]

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

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