Terminology Service for NFDI4Health
Trichothiodystrophy 1, Photosensitive
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http://purl.obolibrary.org/obo/NCIT_C156433
An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD. [ ]
Term info
Label
Trichothiodystrophy 1, Photosensitive
Synonyms
- Trichothiodystrophy 1, Photosensitive
Preferred Name
Trichothiodystrophy 1, Photosensitive
Semantic Type
Disease or Syndrome
UMLS CUI
C1866504
code
C156433