Trichothiodystrophy 1, Photosensitive

Preferred Label : Trichothiodystrophy 1, Photosensitive;

NCIt definition : 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.;

Details

Origin ID

C156433;

UMLS CUI

C1866504;

Currated CISMeF NLP mapping
- PIBIDS syndrome [ICD-11 More detail]
- PIBIDS syndrome [ORDO Disease]
- Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) [SNOMED CT concept]
- Trichothiodystrophy 1, photosensitive [OMIM Phenotype]
- photosensitive trichothiodystrophy [DO Concept]
- photosensitive trichothiodystrophy [MeSH concept]
- photosensitive trichothiodystrophy 1 [DO Concept]
- trichothiodystrophy with sun sensitivity [MeSH concept]
- trichothiodystrophy with sun sensitivity [MeSH Supplementary Concept]
DO Cross reference
- nonphotosensitive trichothiodystrophy 5 [DO Concept]
- photosensitive trichothiodystrophy 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 1, photosensitive [OMIM Phenotype]
- photosensitive trichothiodystrophy [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ERCC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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