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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612783
http://purl.bioontology.org/ontology/OMIM/612783
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 10 |
| Synonyms |
STIM1 DEFICIENCY
IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2
IMD10
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | STIM1 DEFICIENCY
IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2
IMD10
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 10
|
| Gene Symbol |
STIM1
TAM1
IMD10
STRMK
|
| Scope Statement | Caused by mutation in the stromal interaction molecule 1 gene (STIM1, 605921.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11p15.5
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612783
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2748557
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |