Community Action Needed: Please respond to the NIH RFI
OBO ID: DOID:0050470
Term Name: Donohue syndrome Search Ontology:
Synonyms:
  • Leprechaunism
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. https://en.wikipedia.org/wiki/Donohue_syndrome
References:
  • MESH:D056731
  • NCI:C131000
  • NCI:C84676
  • OMIM:246200
  • ORDO:508
  • SNOMEDCT_US_2021_03_01:111307005
  • SNOMEDCT_US_2021_03_01:33559001
  • UMLS_CUI:C0265344
  • UMLS_CUI:C0271695
Ontology: Human Disease   (DOID:0050470)
OTHER Donohue syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
INSR Leprechaunism 246200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None