nonphotosensitive trichothiodystrophy 7 Disease Ontology Browser

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Disease Ontology Browser

nonphotosensitive trichothiodystrophy 7 (DOID:0111870)
Alliance: disease page
Synonyms: TTD7
Alt IDs: OMIM:618546
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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