{"orpha":3390,"name":"Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kearns-Sayre syndrome","url":"https://raremap.alftech.space/d/ORPHA-3390/","orphanet_url":"https://www.orpha.net/en/disease/detail/3390","names":{"fr":{"name":"Syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse"},"de":{"name":"Proximale Tubulopathie - Diabetes mellitus - zerebelläre Ataxie"},"es":{"name":"Síndrome de tubulopatía proximal-diabetes mellitus-ataxia cerebelosa"},"it":{"name":"Tubulopatia prossimale - diabete mellito - atassia cerebellare"},"nl":{"name":"Proximale tubulopathie - diabetes mellitus - cerebellaire ataxie-syndroom"},"pt":{"name":"Síndrome de tubulopatia proximal-diabetes mellitus-ataxia cerebelosa"},"pl":{"name":"Tubulopatia proksymalna - cukrzyca - ataksja móżdźkowa"},"cs":{"name":"Syndrom zahrnující proximální tubulopatii, diabetes mellitus a cerebelární ataxii"},"uk":{"name":"Синдром проксимальної тубулопатії - цукрового діабету - мозочкової атаксії"},"zh":{"name":"近端肾小管病-糖尿病-小脑共济失调综合征"},"tr":{"name":"Proksimal tubulopati-diabetes mellitus-serebellar ataksi sendromu"}},"xrefs":[{"source":"OMIM","code":"560000","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":480,"name":"Kearns-Sayre syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}