| Term Name: | photosensitive trichothiodystrophy 1 |
|---|---|
| Synonyms: | TTD1 |
| Definition: | A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. |
| Ontology: | Human Disease [DOID:0111873] ( DOID:0111873 ) |