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 )

Relationships
is a type of: autosomal recessive disease nonphotosensitive trichothiodystrophy