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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620296
http://purl.bioontology.org/ontology/OMIM/620296
|
|---|---|
| Preferred Name | AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS |
| Synonyms |
AIPCV
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | AIPCV
|
|---|---|
| prefLabel | AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS
|
| Gene Symbol |
AIPCV
HCK
|
| Scope Statement | Death from respiratory failure may occur [MISCELLANEOUS]
Caused by mutation in the HCK protooncogene, SRC family tyrosine kinase gene (HCK, 142370.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
One patient has been reported (last curated March 2023) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 20q11.21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620296
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830371
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |