Term Name: | nonphotosensitive trichothiodystrophy 7 |
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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. |
Ontology: | Human Disease [DOID:0111870] ( DOID:0111870 ) |