photosensitive trichothiodystrophy 1

Summary

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,

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

: ercc2

OMIM:

MIM:601675 - trichothiodystrophy, photosensitive; ttdp ichthyosiform erythroderma with hair abnormality and mental and growth retardation, included;; tay syndrome, included;; trichothiodystrophy with congenital ichthyosis, included;; ichthyosis, congenital, with tricho

MIM:601675 - trichothiodystrophy, photosensitive; ttdp ichthyosiform erythroderma with hair abnormality and mental and growth retardation, included;; tay syndrome, included;; trichothiodystrophy with congenital ichthyosis, included;; ichthyosis, congenital, with tricho

Other Model Organisms: AGR, 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)