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About: X-linked properdin deficiency     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
  • X-linked properdin deficiency
described by
id
  • DOID:0111768
database_cross_reference
  • GARD:9913
  • MESH:C537241
  • OMIM:312060
  • ORDO:2966
  • SNOMEDCT_US_2021_09_01:81166004
  • UMLS_CUI:C0398762
  • UMLS_CUI:C1839454
has_exact_synonym
  • CFPD
  • complement factor properdin deficiency
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.
is topic of
is annotatedSource of
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