Term Name: | X-linked properdin deficiency |
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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. |
Ontology: | Human Disease [DOID:0111768] ( DOID:0111768 ) |