Search Ontology:
Human Disease
nonphotosensitive trichothiodystrophy 7
- Term ID
- DOID:0111870
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models