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maturity-onset diabetes of the young type 8
Summary
- Synonym
-
- MODY type 8
- MODY8
- diabetes and pancreatic exocrine
- maturity-onset diabetes of the young type 8 with exocrine dysfunction
- Definition
- A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.
- Super Class
- maturity-onset diabetes of the young
External Links
- Disease Ontology
- DOID:0111105
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19835 | Bile salt-activated lipase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012028 | Hepatocellular adenoma |
| HP:0011462 | Young adult onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0004904 | Maturity-onset diabetes of the young |
| HP:0002027 | Abdominal pain |
