Trichothiodystrophy 3, Photosensitive

Preferred Label : Trichothiodystrophy 3, Photosensitive;

NCIt synonyms : TTD3;

NCIt definition : An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5.;

Details

Origin ID

C173099;

UMLS CUI

C4017171;

Currated CISMeF NLP mapping
- Trichothiodystrophy 3, photosensitive [OMIM Phenotype]
- photosensitive trichothiodystrophy 3 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 3, photosensitive [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
- GTF2H5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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