Disease: Muscle Spasticity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.120 Biomarker phenotype BEFREE Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and spasticity. 26190011 2015
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.120 GeneticVariation phenotype BEFREE We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of Costeff syndrome (optic atrophy, chorea and spasticity; type III 3MGA). 15902555 2005
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.120 Biomarker phenotype HPO