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
• NCI:C131000
• NCI:C84676
• OMIM:246200
• 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 )