Term Name: photosensitive trichothiodystrophy 3
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 )

Relationships
is a type of: autosomal recessive disease photosensitive trichothiodystrophy