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About: xeroderma pigmentosum group A     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • xeroderma pigmentosum group A
described by
id
  • DOID:0110843
database_cross_reference
  • ICD10CM:Q82.1
  • OMIM:278700
has_exact_synonym
  • XP group A (en)
  • XP1 (en)
  • XPA (en)
  • xeroderma pigmentosum 1 (en)
  • xeroderma pigmentosum complementation group A (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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