{"orpha":280224,"name":"Pelizaeus-Merzbacher disease, transitional form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Transitional PMD"],"definition":"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280224/","orphanet_url":"https://www.orpha.net/en/disease/detail/280224","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher, forme transitoire","synonyms":["PMD transitoire"],"definition":"La maladie de Pelizaeus-Merzbacher (PM), forme transitoire est la forme intermédiaire de la maladie de PM."},"de":{"name":"Pelizaeus-Merzbacher-Krankheit, transitionale Form","synonyms":["PMD, intermediärer Typ","Pelizaeus-Merzbacher-Krankheit, Übergangsform"],"definition":"Die Übergangsform der Pelizaeus-Merzbacher-Krankheit (PMD) ist die intermediäre Form der PMD (s. dort)."},"es":{"name":"Enfermedad de Pelizaeus-Merzbacher, forma transitoria","synonyms":["PMD transitoria"],"definition":"La forma transitoria de la enfermedad de Pelizaeus-Merzbacher (PMD) es la forma intermedia de la PMD (consulte este término)."},"it":{"name":"Malattia di Pelizaeus-Merzbacher, forma transitoria","synonyms":["PMD transitoria"],"definition":"La forma transitoria della malattia di Pelizaeus-Merzbacher (PMD) è la forma intermedia della PMD (si veda questo termine)."},"nl":{"name":"Ziekte van Pelizaeus-Merzbacher, overgangsvorm","synonyms":["Overgangs-PMD","Ziekte van Pelizaeus-Merzbacher, transitionele vorm"],"definition":"De overgangsvorm van de ziekte van Pelizaeus-Merzbacher (PMD) is de intermediaire vorm van PMD (zie deze term)."},"pt":{"name":"Doença de Pelizaeus-Merzbacher, forma transitória","synonyms":["PMD transitória"],"definition":"A forma de transição da doença de Pelizaeus-Merzbacher (PMD) é a forma intermédia de PMD (ver este termo)."},"pl":{"name":"Choroba Pelizaeusa i Merzbachera, postać przejściowa","synonyms":["Przejściowa PMD"]},"cs":{"name":"Pelizaeusova-Merzbacherova nemoc, přechodná forma","synonyms":["Přechodná PMD","Pelizaeus-Merzbacherova nemoc, přechodná forma"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера, перехідна форма","synonyms":["Перехідний PMD"],"definition":"The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)."},"zh":{"name":"中间型佩-梅病","synonyms":["传统型PMD"],"definition":"Pelizaeus-Merzbacher病（PMD）的过渡型是中间型PMD（见本术语）。"},"tr":{"name":"Pelizaeus-Merzbacher hastalığı, geçiş formu","synonyms":["Transisyonel PMD"]}},"xrefs":[{"source":"OMIM","code":"312080","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1471805474"},{"source":"MONDO","code":"0017223","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":702,"name":"Pelizaeus-Merzbacher disease","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"PLP1","name":"proteolipid protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301361[PMID]","hgnc":"9086","ensembl":"ENSG00000123560","omim":"300401","loci":["Xq22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-07","source":"16778599[PMID]_20301361[PMID]","terms":[{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null}]}}