|
| General Information | |||
|---|---|---|---|
| Term | X-linked properdin deficiency | ID (Ontology) | DOID:0111768 (Human Disease) |
| 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. | ||
| Also Known As | "CFPD" ; "complement factor properdin deficiency" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
X-linked monogenic disease |__X-linked recessive disease____ primary immunodeficiency disease | |__complement deficiency_________| X-linked properdin deficiency |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
X-linked recessive disease complement deficiency |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:9913 MESH:C537241 MIM:312060 ORDO:2966 SNOMEDCT_US_2023_03_01:81166004 UMLS_CUI:C0398762 UMLS_CUI:C1839454 |
|||