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

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 recessive disease (is_a), photosensitive trichothiodystrophy (is_a)