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RGD uses the Human Disease Ontology (DO, 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
 primary_id: RDO:9001292
For additional species annotation, visit the Alliance of Genome Resources.

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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 NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Mauriac Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Immune & Inflammatory Diseases 4049
        immune system disease 3407
          primary immunodeficiency disease 2730
            autoimmune disease 1855
              autoimmune disease of endocrine system 379
                type 1 diabetes mellitus 312
                  Mauriac Syndrome 1
paths to the root