OBO ID: DOID:0111871
Term Name: photosensitive trichothiodystrophy 3 Search Ontology:
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 )
OTHER photosensitive trichothiodystrophy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GTF2H5 Trichothiodystrophy 3, photosensitive 616395
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None