Trichothiodystrophy 7, Nonphotosensitive

Preferred Label : Trichothiodystrophy 7, Nonphotosensitive;

NCIt synonyms : TTD7;

NCIt definition : An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic.;

NCI Metathesaurus CUI : CL1402439;

Details

Origin ID

C173102;

UMLS CUI

C5231403;

Currated CISMeF NLP mapping
- Trichothiodystrophy 7, nonphotosensitive [OMIM Phenotype]
- nonphotosensitive trichothiodystrophy 7 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 7, nonphotosensitive [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
- TARS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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