{"orpha":715721,"name":"High-grade astrocytoma with piloid features","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715721/","orphanet_url":"https://www.orpha.net/en/disease/detail/715721","names":{"fr":{"name":"Astrocytome de haut grade avec aspects piloïdes"},"de":{"name":"Hochgradiges Astrozytom mit piloiden Merkmalen"},"es":{"name":"Astrocitoma de alto grado con características piloides"},"it":{"name":"Astrocitoma di alto grado con caratteristiche piloidi"},"nl":{"name":"Hooggradig astrocytoom met piloïde kenmerken"},"pt":{"name":"High-grade astrocytoma with piloid features"},"pl":{"name":"Gwiaździak o wysokim stopniu złośliwości z cechami piloidalnymi"},"cs":{"name":"High-grade astrocytoma with piloid features"}},"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}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":717268,"name":"Circumscribed astrocytic glioma","classifications":[181,202]}],"children":[],"genes":[{"symbol":"ATRX","name":"ATRX chromatin remodeler","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"39848278[PMID]","hgnc":"886","ensembl":"ENSG00000085224","omim":"300032","loci":["Xq21.1"]},{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"39848278[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]},{"symbol":"CDKN2B","name":"cyclin dependent kinase inhibitor 2B","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"29564591[PMID]","hgnc":"1788","ensembl":"ENSG00000147883","omim":"600431","loci":["9p21.3"]},{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"39848278[PMID]","hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":144.0,"area":"Worldwide","status":"Validated","source":"36271929[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36271929[PMID]_ORPHANET"}],"phenotypes":null}