xeroderma pigmentosum group A

Summary

DOID:0110843 - xeroderma pigmentosum group A

Disease Ontology Definition:A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.

Synonyms: xeroderma pigmentosum 1, xeroderma pigmentosum complementation group A, XP1, XPA, XP group A

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

: xpa

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010210 - xeroderma pigmentosum group A

MONDO:0010210 - xeroderma pigmentosum group A

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

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

Parent(s): xeroderma pigmentosum (is_a)