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DO Term : xeroderma pigmentosum group E [DOID:0110846] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
  • synonyms:
  • ICD10CM:Q82.1,
  • XP group E,
  • xeroderma pigmentosum V,
  • 278740,
  • XP5,
  • OMIM:278740,
  • XPE
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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