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Metadata
ID DOID:0111768
Name X-linked 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
Xrefs

GARD:9913

MESH:C537241

OMIM:312060

ORDO:2966

SNOMEDCT_US_2020_09_01:81166004

UMLS_CUI:C0398762

UMLS_CUI:C1839454

Synonyms

CFPD [EXACT]

complement factor properdin deficiency [EXACT]

Parent Relationships

is_a complement deficiency

is_a X-linked recessive disease

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