Search Ontology:
Human Disease

Donohue syndrome

Term ID
DOID:0050470
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
  • MIM:246200
  • NCI:C131000
  • NCI:C84676
  • ORDO:508
  • SNOMEDCT_US_2023_03_01:111307005
  • SNOMEDCT_US_2023_03_01:33559001
  • UMLS_CUI:C0265344
  • UMLS_CUI:C0271695
Ontology
Human Disease   ( DOID:0050470 )
Relationships
is a type of
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Genes Involved
Zebrafish Models