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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615401
http://purl.bioontology.org/ontology/OMIM/615401
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION |
| Synonyms |
IMD8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMD8
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION
|
| Gene Symbol |
CORO1A
TACO
IMD8
CLIPINA
|
| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
Three unrelated families have been reported (last curated October 2014) [MISCELLANEOUS]
Mucocutaneous immunodeficiency syndrome may be prominent [MISCELLANEOUS]
Caused by mutation in the coronin 1A gene (CORO1A, 605000.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615401
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809383
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |