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Metadata
ID DOID:0111870
Name nonphotosensitive trichothiodystrophy 7
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/
Xrefs

OMIM:618546

Synonyms

TTD7 [EXACT]

Parent Relationships

is_a nonphotosensitive trichothiodystrophy

is_a autosomal recessive disease

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