{"orpha":309331,"name":"Intermediate severe 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-309331/","orphanet_url":"https://www.orpha.net/en/disease/detail/309331","names":{"fr":{"name":"Maladie de Salla sévère intermédiaire"},"de":{"name":"Salla disease, intermediäre schwere"},"es":{"name":"Enfermedad de Salla intermedia grave"},"it":{"name":"Malattia di Salla grave intermedia"},"nl":{"name":"Intermediaire ernstige ziekte van Salla"},"pt":{"name":"Doença de Salla de gravidade intermédia"},"pl":{"name":"Pośrednia ciężka choroba Salla"},"cs":{"name":"Nemoc Salla, středně těžká"},"uk":{"name":"Хвороба Салла середнього ступеня тяжкості"},"zh":{"name":"中度重型唾液酸贮积病"},"tr":{"name":"Orta şiddetli Salla hastalığı"}},"xrefs":[{"source":"OMIM","code":"604369","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681076","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":[],"prevalence":[],"phenotypes":null}