Search Ontology:
Human Disease

photosensitive trichothiodystrophy 3

Term ID
DOID:0111871
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. https://pubmed.ncbi.nlm.nih.gov/15220921/
References
Ontology
Human Disease   ( DOID:0111871 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models