Term Name: | photosensitive trichothiodystrophy 3 |
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Synonyms: | trichothiodystrophy complementation group A, TTD3 |
Definition: | A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. |
Ontology: | Human Disease [DOID:0111871] ( DOID:0111871 ) |