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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;   MIM: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 IAGP
EXP		 ClinVar Annotator: match by term: Leprechaunism syndrome
ClinVar Annotator: match by term: Donohue syndrome
ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome
ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome
ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1315125 PMID:1607067 PMID:1657953 PMID:1730625 PMID:2002058 More... NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G LOC129391047 MPRA-validated peak3314 silencer IAGP ClinVar Annotator: match by term: Leprechaunism syndrome ClinVar PMID:7693131 PMID:25741868 PMID:27896077 NCBI chr19:7,113,365...7,113,565 JBrowse link
G LOC129391048 MPRA-validated peak3317 silencer IAGP ClinVar Annotator: match by term: Leprechaunism syndrome ClinVar PMID:7693131 PMID:27896077 NCBI chr19:7,222,164...7,222,364 JBrowse link
G LOC130063348 ATAC-STARR-seq lymphoblastoid active region 13870 IAGP ClinVar Annotator: match by term: Leprechaunism syndrome ClinVar PMID:7693131 PMID:27896077 NCBI chr19:7,179,195...7,179,294 JBrowse link
G LOC130063349 ATAC-STARR-seq lymphoblastoid active region 13871 IAGP ClinVar Annotator: match by term: Leprechaunism syndrome ClinVar PMID:7693131 PMID:27896077 NCBI chr19:7,192,383...7,192,472 JBrowse link
G LOC130063350 ATAC-STARR-seq lymphoblastoid active region 13872 IAGP ClinVar Annotator: match by term: Leprechaunism syndrome ClinVar PMID:7693131 PMID:27896077 NCBI chr19:7,192,523...7,192,612 JBrowse link
G LOC130063351 ATAC-STARR-seq lymphoblastoid active region 13874 IAGP ClinVar Annotator: match by term: Leprechaunism syndrome ClinVar PMID:7693131 PMID:27896077 NCBI chr19:7,216,755...7,216,824 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    syndrome 29836
      Donohue syndrome 7
Path 2
Term Annotations click to browse term
  disease 97419
    Developmental Disease 35303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28782
        genetic disease 27296
          inherited metabolic disorder 9848
            carbohydrate metabolic disorder 4588
              glucose metabolism disease 2915
                diabetes mellitus 2352
                  Donohue syndrome 7
paths to the root