{"orpha":251615,"name":"Pilomyxoid astrocytoma","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-251615/","orphanet_url":"https://www.orpha.net/en/disease/detail/251615","names":{"fr":{"name":"Astrocytome pilomyxoïde"},"de":{"name":"Astrozytom, pilomyxoides"},"es":{"name":"Astrocitoma pilomixoide"},"it":{"name":"Astrocitoma pilomixoide"},"nl":{"name":"Pilomyxoid astrocytoom"},"pt":{"name":"Astrocitoma pilomixóide"},"pl":{"name":"Gwiaździak włosowatośluzakowaty"},"cs":{"name":"Pilomyxoidní astrocytom"},"uk":{"name":"Піломіксоїдна астроцитома"},"zh":{"name":"毛细胞粘液样星形细胞瘤"},"tr":{"name":"Pilomiksoid astrositom"}},"xrefs":[{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"294518434"},{"source":"ICD-11","code":"XH29Q5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"899856825"},{"source":"MONDO","code":"0016692","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1519086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251612,"name":"Pilocytic astrocytoma","classifications":[181,202]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22159586[PMID]_21190184[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23817572[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]},{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22159586[PMID]_21424530[PMID]_19373855[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_18974108[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"KIAA1549","name":"KIAA1549","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_18974108[PMID]","hgnc":"22219","ensembl":"ENSG00000122778","omim":"613344","loci":["7q34"]},{"symbol":"NTRK2","name":"neurotrophic receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23817572[PMID]","hgnc":"8032","ensembl":"ENSG00000148053","omim":"600456","loci":["9q21.33"]},{"symbol":"RAF1","name":"Raf-1 proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_19363522[PMID]","hgnc":"9829","ensembl":"ENSG00000132155","omim":"164760","loci":["3p25.2"]},{"symbol":"SRGAP3","name":"SLIT-ROBO Rho GTPase activating protein 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_19363522[PMID]","hgnc":"19744","ensembl":"ENSG00000196220","omim":"606525","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[],"phenotypes":null}