{"orpha":723358,"name":"Diffuse midline glioma, H3 K27-altered","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-723358/","orphanet_url":"https://www.orpha.net/en/disease/detail/723358","names":{"fr":{"name":"Gliome diffus de la ligne médiane avec altération H3K27"},"de":{"name":"Diffuses Mittelliniengliom, H3-K27-alteriert"},"es":{"name":"Glioma difuso de la línea media con alteración H3 K27M"},"it":{"name":"Glioma diffuso della linea mediana, con alterazione di H3 K27"},"nl":{"name":"Diffuus glioom in middenlijn, H3 K27-gewijzigd"},"pt":{"name":"Diffuse midline glioma, H3 K27-altered"},"pl":{"name":"Diffuse midline glioma, H3 K27-altered"},"cs":{"name":"Diffuse midline glioma, H3 K27-altered"}},"xrefs":[{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH7692","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1312836652"}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":497188,"name":"Diffuse intrinsic pontine glioma","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251561,"name":"High-grade astrocytoma","classifications":[181,202]}],"children":[],"genes":[{"symbol":"H3-3A","name":"H3.3 histone A","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"38102230[PMID]_36534421[PMID]_39376094[PMID]","hgnc":"4764","ensembl":"ENSG00000163041","omim":"601128","loci":["1q42.12"]},{"symbol":"H3C14","name":"H3 clustered histone 14","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"41492091[PMID]","hgnc":"20503","ensembl":"ENSG00000203811","omim":"142780","loci":["1q21.2"]},{"symbol":"H3C2","name":"H3 clustered histone 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"35606633[PMID]","hgnc":"4776","ensembl":"ENSG00000286522","omim":"602819","loci":["6p22.2"]},{"symbol":"H3C3","name":"H3 clustered histone 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"41492091[PMID]","hgnc":"4768","ensembl":"ENSG00000287080","omim":"602812","loci":["6p22.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":null,"value":0.05,"area":"Worldwide","status":"Validated","source":"29746225[PMID]_ORPHANET"}],"phenotypes":null}