Term Name: nonphotosensitive trichothiodystrophy 6
Synonyms: TTD6
Definition: A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.
Ontology: Human Disease [DOID:0111872]   ( DOID:0111872 )

Relationships
is a type of: autosomal recessive disease nonphotosensitive trichothiodystrophy