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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:0000962 | Hyperkeratosis |
| HP:0003247 | Overgrowth of external genitalia |
| HP:0000369 | Low-set ears |
| HP:0001833 | Long foot |
| HP:0000121 | Nephrocalcinosis |
| HP:0001176 | Large hands |
| HP:0002240 | Hepatomegaly |
| HP:0000848 | Increased circulating renin level |
| HP:0000065 | Labial hypertrophy |
| HP:0001508 | Failure to thrive |
