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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:0002900 | Hypokalemia |
| HP:0000855 | Insulin resistance |
| HP:0003270 | Abdominal distention |
| HP:0000974 | Hyperextensible skin |
| HP:0000411 | Protruding ear |
| HP:0002035 | Rectal prolapse |
| HP:0004325 | Decreased body weight |
| HP:0000956 | Acanthosis nigricans |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000316 | Hypertelorism |
