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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 the GCGR gene on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: GCGR-RELATED CONDITION;   GCGR-related hyperglucagonemia;   MVAH;   alpha-cell hyperplasia with glucagonemia;   nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
 primary_id: MIM:619290
 xref: GARD:10460;   ORDO:438274


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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
ISS 		ClinVar Annotator: match by term: GCGR-related condition | ClinVar Annotator: match by term: GCGR-related hyperglucagonemia OMIM
MouseDO
ClinVar		 PMID:19657311 PMID:25695890 PMID:25741868 PMID:27933176 PMID:28492532 More... NCBI chr10:106,306,803...106,314,970
Ensembl chr10:106,306,559...106,314,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        pancreas disease 1250
          endocrine pancreas disease 659
            Mahvash disease 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                Mahvash disease 1
paths to the root