{"Name":"Embryonal tumor with multilayered rosettes","DiseaseID__c":"GARD:0006352","id":6352,"encodedName":"embryonal-tumor-with-multilayered-rosettes","IsDeleted":false,"Disease_Name_Full__c":"Embryonal tumor with multilayered rosettes","Xref_IDs__c":"C186534; C5575350; MEDGEN:1804732; MONDO:0958119; ORPHA:656417","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0958119","Disease_Description__c":"A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a <i>DICER1</i> mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.","GARD_Name__c":"Embryonal tumor with multilayered rosettes","GARD_Synonym__c":"embryonal neoplasm with multilayered rosettes; etmr - embryonal tumor with multilayered rosettes","Curated_Disease_Description_Source__c":"MEDGEN:C0700367","Curated_Disease_Description__c":"A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0958119","ORPHANET_ID__c":"ORPHA:656417","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor embrionario con rosetas de capas múltiples","Spanish_Description_Source__c":"ORPHA:656417","Spanish_Description__c":"Es un tumor embrionario del sistema nervioso central poco frecuente caracterizado por células embrionarias dispuestas en rosetas de capas múltiples y que muestran uno de tres patrones morfológicos: tumor embrionario con abundante neurópilo y rosetas verdaderas, ependimoblastoma o meduloepitelioma. Los tumores suelen tener una alteración C19MC o (raramente) una mutación en el gen <i>DICER1</i> y corresponden al grado IV de la OMS. En su mayoría se localizan intracranealmente, rara vez en la médula espinal, y suelen causar síntomas de presión intracraneal elevada, crisis epilépticas en algunos casos, y signos neurológicos focales. La mayoría de los casos ocurren en niños durante los dos primeros años de vida.","Spanish_Disease_Name__c":"tumor embrionario con rosetas de capas múltiples","Spanish_GARD_Synonym__c":"etmr","Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.","Curated_Disease_Description_Source__c":"MEDGEN:C0700367","GARD_Synonym__c":"embryonal neoplasm with multilayered rosettes; etmr - embryonal tumor with multilayered rosettes","Name":"Embryonal tumor with multilayered rosettes","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5575350","Source__c":"C5575350","Xref__c":"C5575350"},{"URL__c":"https://www.orpha.net/en/disease/detail/656417","Source__c":"MONDO:0958119","Xref__c":"ORPHA:656417"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1804732","Source__c":"C5575350","Xref__c":"MEDGEN:1804732"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1356734004","Source__c":"C5575350","Xref__c":"1356734004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C186534","Source__c":"C5575350; MONDO:0958119","Xref__c":"C186534"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0958119","Source__c":"GARD:0006352","Xref__c":"MONDO:0958119"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=734093008","Source__c":"C5575350","Xref__c":"734093008"}],"tags":{"Specialist":["Cancer - Oncologist","Neurology"],"Disease Category":["Cancer","Neurology"]},"synonyms":["embryonal neoplasm with multilayered rosettes"," etmr - embryonal tumor with multilayered rosettes"]}