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nonphotosensitive trichothiodystrophy 7
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease nonphotosensitive trichothiodystrophy
External Links
- Disease Ontology
- DOID:0111870
- Mondo Disease Ontology
- OMIM
