Term Name: | photosensitive trichothiodystrophy 2 |
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Synonyms: | TTD2 |
Definition: | A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. |
Ontology: | Human Disease [DOID:0111869] ( DOID:0111869 ) |