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Summary Literature (0)
DOID:0111768 - X-linked properdin deficiency


Disease Ontology 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.

Synonyms: CFPD, complement factor properdin deficiency

Xenbase Genes : cfp


OMIM:
OMIM:312060 - PROPERDIN DEFICIENCY, X-LINKED; CFPD

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): complement deficiency (is_a)