Disease: Choreoathetosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 GeneticVariation disease BEFREE Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manifesting in the devastating Lesch-Nyhan syndrome, characterized by choreoathetosis or self-mutilation. 12508781 2003
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 Biomarker disease BEFREE The complete deficiency of HPRT is diagnostic of Lesch-Nyhan syndrome manifested by choreoathetosis, spasticity, mental retardation, and self-injurious behavior. 11307586 2001
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 Biomarker disease HPO