| 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 |
SNOMEDCT_US_2023_03_01:81166004 |
| Subsets |
DO_rare_slim |
| Synonyms |
CFPD [EXACT] complement factor properdin deficiency [EXACT] |
| Parent Relationships |