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Summary Literature (0)
DOID:0050470 - Donohue syndrome

Disease Ontology 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.

Synonyms: Leprechaunism

Xenbase Genes : insr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009517 - Donohue syndrome

MIM:
MIM:246200 - DONOHUE SYNDROME

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)