{"iri":"http://lmss.sali.org/RCeiGFdK6TTSZb0MaH3Uj3P","id":"RCeiGFdK6TTSZb0MaH3Uj3P","label":"Tay-Sachs Disease","definition":"Tay-Sachs disease is a rare, inherited neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A. This deficiency leads to the accumulation of GM2 gangliosides, which are toxic to nerve cells.","prefLabels":[],"altLabels":["GM2 Gangliosidosis Type I","Hexosaminidase A Deficiency"],"examples":[],"notes":[],"sources":["https://www.ssa.gov/disability/professionals/bluebook/10.00-MultipleBody-Adult.htm"],"branch":{"iri":"http://lmss.sali.org/R7L5eLIzH0CpOUE74uJvSjL","label":"Legal Entity"},"parents":[{"iri":"http://lmss.sali.org/R8LxIR1bsgFd3td2G24G3mq","id":"R8LxIR1bsgFd3td2G24G3mq","label":"Congenital Disorders that Affect Multiple Body Systems"},{"iri":"http://lmss.sali.org/REFNhmFYG6yk3W0RPLFV6g","id":"REFNhmFYG6yk3W0RPLFV6g","label":"Neurocognitive Disorders"}],"children":[],"relations":[],"url":"https://lmss.io/tag/RCeiGFdK6TTSZb0MaH3Uj3P/","source":{"repo":"sali-legal/LMSS","ref":"3f9ac0c9357b2a971582ae79ede243511d47811d","channel":"pre-release"}}