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DO Term : xeroderma pigmentosum group A [DOID:0110843] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
ICD10CM:Q82.1,
XP1,
xeroderma pigmentosum complementation group A,
XPA,
XP group A,
OMIM:278700,
xeroderma pigmentosum 1,
278700

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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