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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621030
http://purl.bioontology.org/ontology/OMIM/621030
|
|---|---|
| Preferred Name | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL DOMINANT |
| Synonyms |
AIPDSA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | AIPDSA
|
|---|---|
| prefLabel | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL DOMINANT
|
| Gene Symbol |
AIPDS
OTULIN
GUM
AIPDSA
IMD107
FAM105B
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|
| Scope Statement | Favorable response to anti-TNF agents [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Three unrelated patients have been reported (last curated December 2024) [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the OTU deubiquitinase with linear linkage specificity gene (OTULIN, 615712.0011) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5p15.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621030
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975538
|
| 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 |