loading...| Preferred Name |
Donohue syndrome |
| Synonyms |
Leprechaunism |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050470 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
UMLS_CUI:C0265344 ORDO:508 NCI:C131000 MESH:D056731 UMLS_CUI:C0271695 OMIM:246200 NCI:C84676 SNOMEDCT_US_2022_09_01:111307005 SNOMEDCT_US_2022_09_01:33559001 |
| 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 |