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DO Term : xeroderma pigmentosum group D [DOID:0110845] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
  • synonyms:
  • XP group H,
  • ICD10CM:Q82.1,
  • OMIM:278730,
  • 278730,
  • XPDC,
  • xeroderma pigmentosum VIII,
  • xeroderma pigmentosum IV,
  • XPH,
  • XPD,
  • XP group D,
  • XP4,
  • XP8
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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





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