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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614878
http://purl.bioontology.org/ontology/OMIM/614878
|
|---|---|
| Preferred Name | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION |
| Synonyms |
APLAID
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
APLAID
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
|
|---|---|
| prefLabel | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
|
| Gene Symbol |
APLAID
PLCG2
FCAS3
|
| Scope Statement | Skin lesions worsen with heat or sun exposure [MISCELLANEOUS]
One family has been reported (last curated October 2012) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the gamma-2 phospholipase C gene (PLCG2, 600220.0004). [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 16q24.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 614878
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3553961
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |