OBO ID: DOID:0111870
Term Name: nonphotosensitive trichothiodystrophy 7 Search Ontology:
Synonyms:
  • TTD7
Definition: A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. https://pubmed.ncbi.nlm.nih.gov/31374204/
References:
Ontology: Human Disease   ( DOID:0111870 )
OTHER nonphotosensitive trichothiodystrophy 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TARS Trichothiodystrophy 7, nonphotosensitive 618546
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None