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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610984
http://purl.bioontology.org/ontology/OMIM/610984
|
|---|---|
| Preferred Name | COMPLEMENT FACTOR I DEFICIENCY |
| Synonyms |
C3G2
CFID
COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
C3 GLOMERULOPATHY 2
C3 INACTIVATOR DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
C3G2
CFID
COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
C3 GLOMERULOPATHY 2
C3 INACTIVATOR DEFICIENCY
|
|---|---|
| prefLabel | COMPLEMENT FACTOR I DEFICIENCY
|
| Gene Symbol |
FI
AHUS3
CFI
ARMD13
|
| Scope Statement | Caused by mutation in the complement factor I gene (CFI, 217030.0001) [MOLECULAR BASIS]
Heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) [MISCELLANEOUS]
Rarely, patients may be asymptomatic [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 610984
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3463916
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |