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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:0000040 | Long penis |
| HP:0000065 | Labial hypertrophy |
| HP:0000105 | Enlarged kidney |
| HP:0000121 | Nephrocalcinosis |
| HP:0000252 | Microcephaly |
| HP:0000307 | Pointed chin |
| HP:0000316 | Hypertelorism |
| HP:0000369 | Low-set ears |
| HP:0000411 | Protruding ear |
| HP:0000445 | Wide nose |
