C173102Level 7
Trichothiodystrophy 7, Nonphotosensitive
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic.
**Synonyms:** - TTD7
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