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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:0003202 | Skeletal muscle atrophy |
| HP:0003247 | Overgrowth of external genitalia |
| HP:0003270 | Abdominal distention |
| HP:0003758 | Reduced subcutaneous adipose tissue |
| HP:0004325 | Decreased body weight |
| HP:0004405 | Prominent nipples |
| HP:0004914 | Recurrent infantile hypoglycemia |
| HP:0008665 | Clitoral hypertrophy |
| HP:0008846 | Severe intrauterine growth retardation |
| HP:0008897 | Postnatal growth retardation |
