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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Mahvash disease
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Accession:DOID:0112306 term browser browse the term
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 GCGR on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: GCGR-related hyperglucagonemia;   MVAH;   alpha-cell hyperplasia with glucagonemia;   nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
 primary_id: OMIM:619290
 xref: GARD:10460;   ORDO:438274
For additional species annotation, visit the Alliance of Genome Resources.


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Mahvash disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcgr glucagon receptor ISO ClinVar Annotator: match by term: GCGR-related hyperglucagonemia OMIM
ClinVar		 PMID:19657311 PMID:25695890 PMID:27933176 PMID:30032256 PMID:32785645 NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      endocrine system disease 6295
        pancreas disease 1164
          endocrine pancreas disease 583
            Mahvash disease 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                Mahvash disease 1
paths to the root