{"orpha":728467,"name":"Congenital macrothrombocytopenia with focal myelofibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset autosomal recessive thrombocytopenia-anemia-myelofibrosis","Congenital myelofibrosis with macrothrombocytopenia and focal myelofibrosis","cMTFM","THAMY"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-728467/","orphanet_url":"https://www.orpha.net/en/disease/detail/728467","names":{"fr":{"name":"Macrothrombocytopénie avec myélofibrose focale","synonyms":["Macrothrombocytopénie autosomique récessive à début précoce avec anémie et myélofibrose"]},"de":{"name":"Kongenitale Makrothrombozytopenie mit fokaler Myelofibrose","synonyms":["Kongenitale Myelofibrose mit Makrothrombozytopenie und fokaler Myelofibrose","THAMY","cMTFM","Myelofibrose, MPIG6B-assoziierte"]},"es":{"name":"Macrotrombocitopenia congénita con mielofibrosis focal","synonyms":["Mielofibrosis congénita con macrotrombocitopenia y mielofibrosis focal","THAMY","Trombocitopenia-anemia-mielofibrosis autosómica recesiva de inicio precoz","cMTFM"]},"it":{"name":"Macrotrombocitopenia congenita con mielofibrosi focale","synonyms":["Mielofibrosi congenita con macrotrombocitopenia e mielofibrosi focale","THAMY","cMTFM","Trombocitopenia-anemia-mielofibrosi autosomica recessiva ad esordio precoce"]},"nl":{"name":"Congenitale macrotrombocytopenie met focale myelofibrose","synonyms":["cMTFM","Vroeg optredende autosomaal recessieve trombocytopenie - anemie - myelofibrose","Congenitale myelofibrose met macrotrombocytopenie en focale myelofibrose","THAMY"]},"pt":{"name":"Congenital macrothrombocytopenia with focal myelofibrosis"},"pl":{"name":"Congenital macrothrombocytopenia with focal myelofibrosis","synonyms":["Early-onset autosomal recessive thrombocytopenia-anemia-myelofibrosis","Congenital myelofibrosis with macrothrombocytopenia and focal myelofibrosis","cMTFM","THAMY"]},"cs":{"name":"Congenital macrothrombocytopenia with focal myelofibrosis","synonyms":["Early-onset autosomal recessive thrombocytopenia-anemia-myelofibrosis","Congenital myelofibrosis with macrothrombocytopenia and focal myelofibrosis","cMTFM","THAMY"]}},"xrefs":[{"source":"OMIM","code":"617441","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"MPIG6B","name":"megakaryocyte and platelet inhibitory receptor G6b","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29898956[PMID]_38694137[PMID]","hgnc":"13937","ensembl":"ENSG00000204420","omim":"606520","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}