Trichothiodystrophy 7, nonphotosensitive

Preferred Label : Trichothiodystrophy 7, nonphotosensitive;

Symbol : TTD7;

CISMeF acronym : TTD7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the threonyl-tRNA synthetase gene (TARS, 187790.0001);

Prefixed ID : #618546;

Details

Origin ID

618546;

UMLS CUI

C5231403;

Currated CISMeF NLP mapping
- Trichothiodystrophy 7, Nonphotosensitive [NCIt concept]
- nonphotosensitive trichothiodystrophy 7 [DO Concept]
DO Cross reference
- nonphotosensitive trichothiodystrophy 7 [DO Concept]
Genes related to phenotype
- Threonyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Follicular hyperkeratosis [HPO term]
- Ichthyosis [HPO term]
- Tiger tail banding [HPO term]
Not associated HPO term(s)
- Cutaneous photosensitivity [HPO term]
ORDO concept(s)
- Trichothiodystrophy [ORDO Disease]
See also inter- (CISMeF)
- TARS1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichothiodystrophy 7, Nonphotosensitive [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients