Term Name: photosensitive trichothiodystrophy 2
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 )

Relationships
is a type of: autosomal recessive disease photosensitive trichothiodystrophy