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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:PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
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Accession:DOID:9001863 term browser browse the term
Synonyms:exact_synonym: MENDENHALL SYNDROME;   PINEAL HYPERPLASIA AND DIABETES MELLITUS SYNDROME;   RABSON-MENDENHALL SYNDROME
 primary_id: OMIM:262190
For additional species annotation, visit the Alliance of Genome Resources.



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PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: Mendenhall Syndrome | ClinVar Annotator: match by term: Pineal hyperplasia AND diabetes mellitus syndrome OMIM
ClinVar
PMID:2002058 PMID:2040394 PMID:2121734 PMID:2211730 PMID:2233914 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Pathological Conditions, Signs and Symptoms 11297
      Pathologic Processes 7693
        Hyperplasia 128
          PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            carbohydrate metabolic disorder 2561
              glucose metabolism disease 1874
                diabetes 1479
                  diabetes mellitus 1462
                    PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES 1
paths to the root