Trichothiodystrophy 9, nonphotosensitive

Preferred Label : Trichothiodystrophy 9, nonphotosensitive;

Symbol : TTD9;

Type : Phenotype, molecular basis known;

Prefixed ID : #619692;

Details

Origin ID

619692;

UMLS CUI

C5562058;

Genes related to phenotype
- Methionyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Dental malocclusion [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- High, narrow palate [HPO term]
- Ichthyosis [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Keratosis pilaris [HPO term]
- Nail dystrophy [HPO term]
- Reduced tendon reflexes [HPO term]
- Sparse eyebrow [HPO term]
- Sparse hair [HPO term]
- Tiger tail banding [HPO term]
ORDO concept(s)
- Trichothiodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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