Donohue Syndrome
Disease ID: disease_node_12263
Connections displayed (default: 10).
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| Dbxref | MESH:D056731, MIM:246200, NCI:C131000, NCI:C84676, ORDO:508, SNOMEDCT_US_2023_03_01:111307005, SNOMEDCT_US_2023_03_01:33559001, UMLS_CUI:C0265344, UMLS_CUI:C0271695 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Leprechaunism |
| Mesh Id | D056731 |
| Mesh Label | Donohue Syndrome |
| Mesh Subclassof | D030342, D000015, D003920, D019465 |
| Doid Label | Donohue syndrome |
| Doid Description | 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 Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12263 |
| Doid Id | DOID_0050470 |
| Label | Donohue Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)