{"Name":"Ependymoblastoma","DiseaseID__c":"GARD:0020720","id":20720,"encodedName":"ependymoblastoma","IsDeleted":false,"Disease_Name_Full__c":"Ependymoblastoma","Xref_IDs__c":"423022150; 715901002; C0700367; C4915; DOID:0080903; HP:0030066; MEDGEN:152150; MONDO:0016715","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016715","Disease_Description__c":"Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.","GARD_Name__c":"Ependymoblastoma","GARD_Synonym__c":"embryonal tumor with abundant neuropil and true rosettes; embryonal tumor with multilayered rosettes with c19mc amplification; embryonal tumor with multilayered rosettes, c19mc-altered; embryonal tumour with abundant neuropil and true rosettes; embryonal tumour with multilayered rosettes; embryonal tumour with multilayered rosettes with c19mc amplification; embryonal tumour with multilayered rosettes, c19mc-altered; etmr, c19mc-altered; neuroectodermal tumors primitive","Curated_Disease_Description_Source__c":"MONDO:0016715","Curated_Disease_Description__c":"Ependymoblastoma is a highly malignant brain cancer of childhood and is usually seen in the very young child or infant. It is rare among brain cancers in general, but these brain cancers are the second most common malignancy in the childhood age group, second only to leukemia.\r\n\r\nEpendymoblastoma is part of a group of cancers classified under the central nervous system (CNS) embryonal cancers group. The symptoms include loss of balance, abnormal speech, general weakness or weakness on one side of the face and double vision. Infratentorial ependymoblastomas (lower back brain) present with signs and symptoms of increased intracranial pressure and cerebellar signs (coordination symptoms). Supratentorial ependymoblastomas (upper brain) are more likely to present with focal headaches and focal motor signs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:251880","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016715","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Ependymoblastoma is a highly malignant brain cancer of childhood and is usually seen in the very young child or infant. It is rare among brain cancers in general, but these brain cancers are the second most common malignancy in the childhood age group, second only to leukemia.\r\n\r\nEpendymoblastoma is part of a group of cancers classified under the central nervous system (CNS) embryonal cancers group. The symptoms include loss of balance, abnormal speech, general weakness or weakness on one side of the face and double vision. Infratentorial ependymoblastomas (lower back brain) present with signs and symptoms of increased intracranial pressure and cerebellar signs (coordination symptoms). Supratentorial ependymoblastomas (upper brain) are more likely to present with focal headaches and focal motor signs.","Curated_Disease_Description_Source__c":"MONDO:0016715","GARD_Synonym__c":"embryonal tumor with abundant neuropil and true rosettes; embryonal tumor with multilayered rosettes with c19mc amplification; embryonal tumor with multilayered rosettes, c19mc-altered; embryonal tumour with abundant neuropil and true rosettes; embryonal tumour with multilayered rosettes; embryonal tumour with multilayered rosettes with c19mc amplification; embryonal tumour with multilayered rosettes, c19mc-altered; etmr, c19mc-altered; neuroectodermal tumors primitive","Name":"Ependymoblastoma","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080903","Source__c":"MONDO:0016715","Xref__c":"DOID:0080903"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715901002","Source__c":"C0700367; MONDO:0016715","Xref__c":"715901002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4915","Source__c":"C0700367; MONDO:0016715","Xref__c":"C4915"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0700367","Source__c":"C0700367","Xref__c":"C0700367"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=152150","Source__c":"C0700367","Xref__c":"MEDGEN:152150"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016715","Source__c":"GARD:0020720","Xref__c":"MONDO:0016715"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030066","Source__c":"C0700367","Xref__c":"HP:0030066"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022150","Xref__c":"423022150"}],"tags":{"Disease Category":["Cancer"]},"synonyms":["embryonal tumor with abundant neuropil and true rosettes"," embryonal tumor with multilayered rosettes with c19mc amplification"," embryonal tumor with multilayered rosettes, c19mc-altered"," embryonal tumour with abundant neuropil and true rosettes"," embryonal tumour with multilayered rosettes"," embryonal tumour with multilayered rosettes with c19mc amplification"," embryonal tumour with multilayered rosettes, c19mc-altered"," etmr, c19mc-altered"," neuroectodermal tumors primitive"]}