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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620632
http://purl.bioontology.org/ontology/OMIM/620632
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION |
| Synonyms |
IMD115
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMD115
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION
|
| Gene Symbol |
IMD115
ZIBRA
RNF31
|
| Scope Statement | Variable manifestations [MISCELLANEOUS]
Caused by mutation in the ring finger protein 31 gene (RNF31, 612487.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Two unrelated patients have been reported (last curated November 2023) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620632
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5882724
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |