Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/612923
http://purl.bioontology.org/ontology/OMIM/612923
Preferred Name

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
Synonyms
AHUS3
AHUS, SUSCEPTIBILITY TO, 3
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AHUS3
AHUS, SUSCEPTIBILITY TO, 3
prefLabel
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
Gene Symbol
FI
AHUS3
CFI
ARMD13
Scope Statement
Susceptibility conferred by mutation in the complement factor I gene (CFI, 217030.0004) [MOLECULAR BASIS]
Recurrence is possible [MISCELLANEOUS]
Variable age of onset (childhood to young adulthood) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU039266
http://purl.bioontology.org/ontology/OMIM/MTHU009065
http://purl.bioontology.org/ontology/OMIM/MTHU039265
http://purl.bioontology.org/ontology/OMIM/MTHU037504
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU009068
http://purl.bioontology.org/ontology/OMIM/MTHU012488
http://purl.bioontology.org/ontology/OMIM/MTHU026095
http://purl.bioontology.org/ontology/OMIM/MTHU035866
http://purl.bioontology.org/ontology/OMIM/MTHU039261
http://purl.bioontology.org/ontology/OMIM/MTHU036916
http://purl.bioontology.org/ontology/OMIM/MTHU000013
http://purl.bioontology.org/ontology/OMIM/MTHU039267
http://purl.bioontology.org/ontology/OMIM/MTHU012487
http://purl.bioontology.org/ontology/OMIM/MTHU009069
http://purl.bioontology.org/ontology/OMIM/MTHU012493
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tui
T033
Gene Locus
4q25
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
612923
Semantic type UMLS property
Has inheritance type
cui
C2752039
OMIM Entry Type
3
OMIM MimType Value
pound
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