|
DOID:0111873 - photosensitive trichothiodystrophy 1
Disease Ontology Definition:A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
Synonyms: TTD1,
Xenbase Genes : ercc2, ercc3, gtf2h5
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee