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Disease Ontology Browser
Donohue syndrome (DOID:0050470)
Alliance: disease page
Synonyms: Leprechaunism
Alt IDs: OMIM:246200, MESH:D056731, NCI:C131000, NCI:C84676, ORDO:508, UMLS_CUI:C0265344, UMLS_CUI:C0271695
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory