Search Ontology:
Human Disease

X-linked properdin deficiency

Term ID
DOID:0111768
Synonyms
  • CFPD
  • complement factor properdin deficiency
Definition
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. https://www.ncbi.nlm.nih.gov/pubmed/8530058
References
  • GARD:9913
  • MESH:C537241
  • MIM:312060
  • ORDO:2966
  • SNOMEDCT_US_2023_03_01:81166004
  • UMLS_CUI:C0398762
  • UMLS_CUI:C1839454
Ontology
Human Disease   ( DOID:0111768 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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