photosensitive trichothiodystrophy

Summary

DOID:2960 - photosensitive trichothiodystrophy

Disease Ontology Definition:A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.

Synonyms: IBIDS syndrome, sulfur-deficient brittle hair syndrome, Tay syndrome, trichothiodystrophy, trichothiodystrophy with congenital ichthyosis, TTD-P

Echinobase 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

: ercc2

MIM:

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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

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

Parent(s): autosomal dominant disease (is_a), trichothiodystrophy (is_a)