Trichothiodystrophy 4, Nonphotosensitive

Preferred Label : Trichothiodystrophy 4, Nonphotosensitive;

NCIt definition : A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.;

Détails

Origin ID

C146899;

UMLS CUI

C1313961;

Currated CISMeF NLP mapping
- Trichorrhexis nodosa syndrome [MeSH concept]
- Trichothiodystrophy 4, nonphotosensitive [OMIM Phenotype]
- nonphotosensitive trichothiodystrophy 4 [DO Concept]
- trichorrhexis nodosa syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pollitt syndrome [ORDO Disease]
- Trichorrhexis nodosa syndrome [OMIM Phenotype]
- Trichorrhexis nodosa syndrome [MeSH concept]
- Trichothiodystrophy 4, nonphotosensitive [OMIM Phenotype]
- trichorrhexis nodosa syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MPLKIP Gene [NCIt concept]

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

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