OBO ID: DOID:0111870 |
Term Name: | nonphotosensitive trichothiodystrophy 7 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0111870 ) |
OTHER nonphotosensitive trichothiodystrophy 7 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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