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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:Mauriac Syndrome
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Accession:DOID:9000866 term browser browse the term
Synonyms:exact_synonym: Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome;   Mauriac's syndrome


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Mauriac Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Mauriac syndrome ClinVar PMID:27207549 PMID:28492532 NCBI chr16:24,211,929...24,221,756
Ensembl chr16:31,115,033...31,127,216 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      endocrine system disease 6230
        diabetes mellitus 1345
          Diabetes Complications 490
            Mauriac Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15805
    Developmental Disease 13797
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12848
        genetic disease 12543
          inherited metabolic disorder 5923
            carbohydrate metabolic disorder 2827
              glucose metabolism disease 1574
                diabetes mellitus 1345
                  Diabetes Complications 490
                    Mauriac Syndrome 1
paths to the root