{"orpha":309334,"name":"Salla disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Free sialic acid storage disease","url":"https://raremap.alftech.space/d/ORPHA-309334/","orphanet_url":"https://www.orpha.net/en/disease/detail/309334","names":{"fr":{"name":"Maladie de Salla"},"de":{"name":"Salla-Krankheit"},"es":{"name":"Enfermedad de Salla"},"it":{"name":"Malattia di Salla"},"nl":{"name":"Ziekte van Salla"},"pt":{"name":"Doença de Salla"},"pl":{"name":"Choroba Salla"},"cs":{"name":"Nemoc Salla"},"uk":{"name":"Хвороба Салла"},"zh":{"name":"唾液酸贮积病"},"tr":{"name":"Salla hastalığı"}},"xrefs":[{"source":"OMIM","code":"604369","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011449","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1096903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067531","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":834,"name":"Free sialic acid storage disease","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"SLC17A5","name":"solute carrier family 17 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301643[PMID]","hgnc":"10933","ensembl":"ENSG00000119899","omim":"604322","loci":["6q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.59,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"16584062[PMID]_ORPHANET"}],"phenotypes":null}