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

• OMIM:618546

Ontology

Human Disease   ( DOID:0111870 )