| Metadata | |
|---|---|
| ID | DOID:0112306 |
| Name | Mahvash Disease |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/29702528/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619290 |
| Subsets |
DO_rare_slim |
| Synonyms |
GCGR-related hyperglucagonemia [EXACT] nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |