OBO ID: DOID:0111873
Term Name: photosensitive trichothiodystrophy 1 Search Ontology:
Synonyms:
  • TTD1
Definition: A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. https://pubmed.ncbi.nlm.nih.gov/9195225/
References:
Ontology: Human Disease   ( DOID:0111873 )
OTHER photosensitive trichothiodystrophy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERCC2 Trichothiodystrophy 1, photosensitive 601675
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None