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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616941
http://purl.bioontology.org/ontology/OMIM/616941
|
|---|---|
| Preferred Name | AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT |
| Synonyms |
AGM8
AGM8A
AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AGM8
AGM8A
AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT
|
|---|---|
| prefLabel | AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT
|
| Gene Symbol |
AGM8B
AGM8A
TCF3
E2A
|
| Scope Statement | Four unrelated patients have been reported (last curated May 2016) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the transcription factor 3 gene (147141.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 19p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616941
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310786
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |