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RGD uses the Human Disease Ontology (DO, 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
PMID:1315125 PMID:1607067 PMID:1657953 PMID:1730625 PMID:2040394 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Donohue syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                Donohue syndrome 1
paths to the root