Search Ontology:
Human Disease
Donohue syndrome
- Term ID
- DOID:0050470
- Synonyms
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- 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. https://en.wikipedia.org/wiki/Donohue_syndrome
- References
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- MESH:D056731
- MIM:246200
- NCI:C131000
- NCI:C84676
- ORDO:508
- SNOMEDCT_US_2023_03_01:111307005
- SNOMEDCT_US_2023_03_01:33559001
- UMLS_CUI:C0265344
- UMLS_CUI:C0271695
- Ontology
- Human Disease ( DOID:0050470 )
- is a type of
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Genes Involved
Zebrafish Models