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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 chrNW_004936501:13,139,182...13,150,507
Ensembl chrNW_004936501:13,139,970...13,150,484 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      endocrine system disease 5607
        diabetes mellitus 1282
          Diabetes Complications 467
            Mauriac Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5212
            carbohydrate metabolic disorder 2560
              glucose metabolism disease 1422
                diabetes mellitus 1282
                  Diabetes Complications 467
                    Mauriac Syndrome 1
paths to the root