Search Ontology:
Human Disease

nonphotosensitive trichothiodystrophy 7

Term ID
DOID:0111870
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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