spinocerebellar ataxia type 41

human disease

Wikidata entity: Q55345896



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q15322900 (TRPC3) TRPC3
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P31 instance of ... Q112193867 (class of disease) class of disease
P279 subclass of ... Q899726 (spinocerebellar ataxia) spinocerebellar ataxia
P279 subclass of ... Q55346088 (autosomal dominant cerebellar ataxia type III) autosomal dominant cerebellar ataxia type III

External Ids
P699Disease Ontology IDDOID:0111744
P4229ICD-10-CMG11.2
P5270Mondo IDMONDO_0014626
P492OMIM ID616410
P492OMIM ID616410
P1550Orphanet ID458798
P2892UMLS CUIC4225158
P11430UniProt disease IDDI-04448

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