| Term Name: | nonphotosensitive trichothiodystrophy 7 |
|---|---|
| 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 ) |