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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
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000826 | Precocious puberty |
| HP:0000138 | Ovarian cyst |
| HP:0001396 | Cholestasis |
| HP:0004510 | Pancreatic islet-cell hyperplasia |
| HP:0000400 | Macrotia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0000179 | Thick lower lip vermilion |
| HP:0001525 | Severe failure to thrive |
