You are using an outdated browser. Please upgrade your browser to improve your experience.
Richards-Rundle syndrome
Disease Summary
Associated Targets ()
Mondo Description Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0008423
MESH:C535674
OMIM:245100
Orphanet:1399
SCTID:715415005
UMLS:C0796136
MONDO:0009493
High level summary of knowledge for a disease, including descriptions and datasource references.