Preferred Name |
Donohue syndrome |
|
Synonyms |
Leprechaunism |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050470 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:111307005 UMLS_CUI:C0265344 UMLS_CUI:C0271695 OMIM:246200 NCI:C131000 MESH:D056731 SNOMEDCT_US_2023_03_01:33559001 NCI:C84676 ORDO:508 |
|
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. |
|
has exact synonym |
Leprechaunism |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050470 |
|
in_subset | ||
label |
Donohue syndrome |
|
notation |
DOID:0050470 |
|
prefLabel |
Donohue syndrome |
|
subClassOf |