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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:2040394 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 17207
    syndrome 8126
      Donohue syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal recessive disease 3443
                Donohue syndrome 1
paths to the root