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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:Donohue syndrome
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Accession:DOID:0050470 term browser browse the term
Definition:A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO)
Synonyms:exact_synonym: leprechaunism;   leprechaunism syndrome
 related_synonym: defect in insulin receptor
 primary_id: MESH:D056731
 alt_id: MESH:C562709;   OMIM:246200
 xref: NCI:C131000;   NCI:C84676;   ORDO:508


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Donohue syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome		 OMIM
CTD
ClinVar		 PMID:1315125 PMID:1607067 PMID:1657953 PMID:1730625 PMID:2002058 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Donohue syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            carbohydrate metabolic disorder 3265
              glucose metabolism disease 2069
                diabetes mellitus 1658
                  Donohue syndrome 1
paths to the root