Human genes for photosensitive trichothiodystrophy 1
Photosensitive trichothiodystrophy 1 [DOID:0111873]
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC2 on chromosome 19q13.32.
Synonyms: photosensitive trichothiodystrophy 1, DOID:0111873, TTD1