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]. |
|
| alternative label |
Leprechaunism |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:111307005 UMLS_CUI:C0265344 UMLS_CUI:C0271695 NCI:C131000 MESH:D056731 SNOMEDCT_US_2023_03_01:33559001 MIM:246200 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. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
Leprechaunism |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050470 |
|
| in_subset | ||
| label |
Donohue syndrome |
|
| notation |
DOID:0050470 |
|
| note |
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]. |
|
| preferred label |
Donohue syndrome |
|
| prefLabel |
Donohue syndrome |
|
| subClassOf |