Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/613652
http://purl.bioontology.org/ontology/OMIM/613652
Preferred Name

C1q DEFICIENCY 1
Synonyms
C1QD1
C1q DEFICIENCY
C1QD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
C1QD1
C1q DEFICIENCY
C1QD
prefLabel
C1q DEFICIENCY 1
Gene Symbol
C1QA
C1QD1
Scope Statement
Caused by mutation in the complement component 1, q subcomponent, A chain gene (C1QA, 120550.0001) [MOLECULAR BASIS]
Bacterial infections may include keratitis, otitis, and meningitis [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU077532
http://purl.bioontology.org/ontology/OMIM/MTHU077530
http://purl.bioontology.org/ontology/OMIM/MTHU034435
http://purl.bioontology.org/ontology/OMIM/MTHU077524
http://purl.bioontology.org/ontology/OMIM/MTHU025035
http://purl.bioontology.org/ontology/OMIM/MTHU077525
http://purl.bioontology.org/ontology/OMIM/MTHU041499
http://purl.bioontology.org/ontology/OMIM/MTHU077533
http://purl.bioontology.org/ontology/OMIM/MTHU036685
http://purl.bioontology.org/ontology/OMIM/MTHU069083
http://purl.bioontology.org/ontology/OMIM/MTHU041389
http://purl.bioontology.org/ontology/OMIM/MTHU077528
http://purl.bioontology.org/ontology/OMIM/MTHU077529
http://purl.bioontology.org/ontology/OMIM/MTHU000013
http://purl.bioontology.org/ontology/OMIM/MTHU077527
http://purl.bioontology.org/ontology/OMIM/MTHU077531
http://purl.bioontology.org/ontology/OMIM/MTHU077526
http://purl.bioontology.org/ontology/OMIM/MTHU076645
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tui
T047
Gene Locus
1p36.3-p34.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
613652
Semantic type UMLS property
Has inheritance type
cui
C3150902
OMIM Entry Type
3
OMIM MimType Value
pound
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