Mahvash Disease
Disease ID: disease_node_14475
Connections displayed (default: 10).
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| Dbxref | GARD:10460, MIM:619290, ORDO:438274 |
|---|---|
| Subclassof | DOID_1428, DOID_0050737 |
| Data Source | DOID |
| Synonyms | GCGR-related hyperglucagonemia, nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor |
| Doid Label | Mahvash Disease |
| Doid Description | An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14475 |
| Doid Id | DOID_0112306 |
| Label | Mahvash Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Endocrine Pancreas Disease(ID:disease_node_14471) (Disease)