{"orpha":2168,"name":"Homocarnosinosis","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Homocarnosinase deficiency"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive spastic paraplegia type 11","url":"https://raremap.alftech.space/d/ORPHA-2168/","orphanet_url":"https://www.orpha.net/en/disease/detail/2168","names":{"fr":{"name":"Homocarnosinose","synonyms":["Déficit en homocarnosinase"]},"de":{"name":"Homocarnosinose","synonyms":["Homocarnosinase-Mangel"]},"es":{"name":"Homocarnosinosis","synonyms":["Deficiencia de homocarnosinasa"]},"it":{"name":"Omocarnosinasi","synonyms":["Deficit di omocarnosinasi"]},"nl":{"name":"Homocarnosinose","synonyms":["Homocarnosinasedeficiëntie"]},"pt":{"name":"Homocarnosinose","synonyms":["Deficiência de homocarnosinase"]},"pl":{"name":"Homokarnozynoza","synonyms":["Niedobór homokarnozynozy"]},"cs":{"name":"Homokarnosinóza","synonyms":["Deficit homokarnosinózy"]},"uk":{"name":"Гомокарнозиноз","synonyms":["Дефіцит гомокарнозинази"]},"zh":{"name":"高肌肽病","synonyms":["高肌肽酶缺乏症"]},"tr":{"name":"Homokarnosinoz","synonyms":["Homokarnosinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"236130","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535328","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495554","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2730","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":2822,"name":"Autosomal recessive spastic paraplegia type 11"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}