Metadata | |
---|---|
ID | DOID:0050470 |
Name | Donohue syndrome |
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 |
Xrefs |
SNOMEDCT_US_2023_03_01:111307005 SNOMEDCT_US_2023_03_01:33559001 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Leprechaunism [EXACT] |
Parent Relationships |
is_a syndrome |