Search Ontology:
Human Disease
immunodeficiency with hyper-IgM type 4
- Term ID
- DOID:0060760
- Synonyms
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- HIGM4
- hyper-IgM syndrome type 4
- Definition
- A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. https://www.ncbi.nlm.nih.gov/pubmed/12840068
- References
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- GARD:10580
- MESH:C564277
- MIM:608184
- NCI:C564277
- ORDO:101091
- UMLS_CUI:C1842413
- Ontology
- Human Disease ( DOID:0060760 )
- is a type of
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Genes Involved
Zebrafish Models