OBO ID: DOID:0111768
Term Name: X-linked properdin deficiency Search Ontology:
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:
Ontology: Human Disease   (DOID:0111768)
OTHER X-linked properdin deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CFP Properdin deficiency, X-linked 312060
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None