X-linked properdin deficiency Disease Ontology Browser

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Disease Ontology Browser

X-linked properdin deficiency (DOID:0111768)
Alliance: disease page
Synonyms: CFPD; complement factor properdin deficiency
Alt IDs: OMIM:312060, MESH:C537241, ORDO:2966, UMLS_CUI:C0398762, UMLS_CUI:C1839454
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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