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Donohue syndrome
Summary
- Synonym
-
- Leprechaunism
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050470
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06213 | Insulin receptor |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0000105 | Enlarged kidney |
| HP:0001072 | Thickened skin |
| HP:0002219 | Facial hypertrichosis |
| HP:0000842 | Hyperinsulinemia |
| HP:0008846 | Severe intrauterine growth retardation |
| HP:0011787 | Central hypothyroidism |
| HP:0004914 | Recurrent infantile hypoglycemia |
| HP:0012471 | Thick vermilion border |
| HP:0008936 | Axial hypotonia |
