Donohue syndrome
Information
- Disease name
- Donohue syndrome
- Disease ID
- DOID:0050470
- Description
- "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." [url:https\://en.wikipedia.org/wiki/Donohue_syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MESH:D056731
- Cross Reference ID (Disease Ontology)
- MIM:246200
- Cross Reference ID (Disease Ontology)
- NCI:C131000
- Cross Reference ID (Disease Ontology)
- NCI:C84676
- Cross Reference ID (Disease Ontology)
- ORDO:508
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:111307005
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:33559001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265344
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0271695
- Exact Synonym (Disease Ontology)
- Leprechaunism
- MeSH unique ID (MeSH (Medical Subject Headings))
- D056731