nonphotosensitive trichothiodystrophy 6

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Summary

Literature (0)

DOID:0111872 - nonphotosensitive trichothiodystrophy 6

Disease Ontology Definition:A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.

Synonyms: TTD6

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

: gtf2e2

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), nonphotosensitive trichothiodystrophy (is_a)