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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:0009517 - Donohue syndrome |
| MIM:246200 - DONOHUE SYNDROME |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)