Term Name: | nonphotosensitive trichothiodystrophy 6 |
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Synonyms: | TTD6 |
Definition: | A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. |
Ontology: | Human Disease [DOID:0111872] ( DOID:0111872 ) |