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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:0004405 | Prominent nipples |
| HP:0011998 | Postprandial hyperglycemia |
| HP:0008897 | Postnatal growth retardation |
| HP:0100879 | Enlarged ovaries |
| HP:0008665 | Clitoral hypertrophy |
| HP:0011344 | Severe global developmental delay |
| HP:0001034 | Hypermelanotic macule |
| HP:0004428 | Elfin facies |
| HP:0002719 | Recurrent infections |
| HP:0000154 | Wide mouth |
