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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:0001511 | Intrauterine growth retardation |
| HP:0000212 | Gingival overgrowth |
| HP:0004298 | Abnormality of the abdominal wall |
| HP:0001395 | Hepatic fibrosis |
| HP:0000520 | Proptosis |
| HP:0003074 | Hyperglycemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002164 | Nail dysplasia |
| HP:0000274 | Small face |
| HP:0008887 | Adipose tissue loss |
