photosensitive trichothiodystrophy 3

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Summary

Literature (0)

DOID:0111871 - photosensitive trichothiodystrophy 3

Disease Ontology Definition:A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.

Synonyms: trichothiodystrophy complementation group A, TTD3

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gtf2h5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), photosensitive trichothiodystrophy (is_a)