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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:Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.
Synonyms:exact_synonym: LEPRECHAUNISM SYNDROME;   Leprechaunism
 related_synonym: LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN;   defect in insulin receptor
 primary_id: MESH:D056731
 alt_id: MESH:C562709;   OMIM:246200
 xref: NCI:C131000;   NCI:C84676;   ORDO:508
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by OMIM:246200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:262190
ClinVar Annotator: match by term: Donohue Syndrome
ClinVar Annotator: match by term: Leprechaunism syndrome		 OMIM
ClinVar
CTD		 PMID:1315125, PMID:1607067, PMID:1657953, PMID:1730625, PMID:2211730, PMID:2300553, PMID:2365819, PMID:2479553, PMID:2834824, PMID:2983222, PMID:3280314, PMID:7657032, PMID:7693131, PMID:7815442, PMID:8101305, PMID:8188715, PMID:8257688, PMID:8314008, PMID:8326490, PMID:8419945, PMID:8432414, PMID:8900242, PMID:10084586, PMID:10933564, PMID:11463381, PMID:12023989, PMID:12970295, PMID:18411068, PMID:19135752, PMID:22775283, PMID:24033266, PMID:24498630, PMID:25741868, PMID:27896077, PMID:28492532, PMID:29369573 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Donohue syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Donohue syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.