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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618372
http://purl.bioontology.org/ontology/OMIM/618372
|
|---|---|
| Preferred Name | GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS |
| Synonyms |
PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF
GURDP
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF
GURDP
|
|---|---|
| prefLabel | GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
|
| Gene Symbol |
GURDP
PLA2G4
PLA2G4A
|
| Scope Statement | Onset in first years of life [MISCELLANEOUS]
Caused by mutation in the phospholipase A2, group IVA gene (PLA2G4A, 600522.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618372
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5567651
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |