DISEASES

Disease-gene associations mined from literature

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