{ "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ], "children": [ { "id": "DOID:3869", "label": "childhood medulloblastoma", "link_status": true, "children": [] } ], "id_list": [ "DOID:3869", "DOID:0050902" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050902", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "categories": [] }, { "id": "MONDO:0007959", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "categories": [] }, { "id": "MIM:155255", "database": "MIM", "url": "https://www.omim.org/entry/155255", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A0R4IWH7-1", "uniprot_ac": "A0A0R4IWH7", "uniprot_id": "A0A0R4IWH7_DANRE", "refseq_ac": "NP_001137312", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Adenomatous polyposis coli protein", "type": "synonym" }, { "name": "adenomatosis polyposis coli", "type": "synonym" }, { "name": "adenomatous polyposis coli protein", "type": "synonym" }, { "name": "adenomatous polyposis coli", "type": "synonym" } ], "gene_names": [ { "name": "apc", "type": "recommended" }, { "name": "apc", "type": "synonym" }, { "name": "cb965", "type": "synonym" }, { "name": "im:7150932", "type": "synonym" }, { "name": "im:7152872", "type": "synonym" } ], "record_id": "A0A0R4IWH7-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "uniprot_canonical_ac": "F1QGH7-1", "uniprot_ac": "F1QGH7", "uniprot_id": "CTNB1_DANRE", "refseq_ac": "NP_571134", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Catenin beta-1", "type": "recommended" }, { "name": "Beta-catenin", "type": "synonym" }, { "name": "beta-catenin", "type": "synonym" }, { "name": "catenin beta-1", "type": "synonym" } ], "gene_names": [ { "name": "ctnnb1", "type": "recommended" }, { "name": "ctnnb1", "type": "synonym" }, { "name": "ctnnb", "type": "synonym" }, { "name": "id:ibd2058", "type": "synonym" }, { "name": "wu:fb73e10", "type": "synonym" }, { "name": "wu:fi81c06", "type": "synonym" }, { "name": "wu:fk25h01", "type": "synonym" } ], "record_id": "F1QGH7-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "uniprot_canonical_ac": "A0A8M2B481-1", "uniprot_ac": "A0A8M2B481", "uniprot_id": "A0A8M2B481_DANRE", "refseq_ac": "NP_001103864", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Breast cancer type 2 susceptibility protein", "type": "synonym" }, { "name": "breast and ovarian cancer susceptibility protein 2", "type": "synonym" }, { "name": "breast cancer 2, early onset", "type": "synonym" }, { "name": "breast cancer type 2 susceptibility protein", "type": "synonym" } ], "gene_names": [ { "name": "brca2", "type": "recommended" }, { "name": "brca2", "type": "synonym" }, { "name": "fancd1", "type": "synonym" } ], "record_id": "A0A8M2B481-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "uniprot_canonical_ac": "Q90X46-1", "uniprot_ac": "Q90X46", "uniprot_id": "G161B_DANRE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "G protein-coupled receptor 161B", "type": "recommended" } ], "gene_names": [ { "name": "gpr161b", "type": "recommended" }, { "name": "si:rp71-20i5.4", "type": "synonym" } ], "record_id": "Q90X46-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "uniprot_canonical_ac": "E7FAM4-1", "uniprot_ac": "E7FAM4", "uniprot_id": "G161A_DANRE", "refseq_ac": "XP_002662328", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "G protein-coupled receptor 161B", "type": "recommended" }, { "name": "G-protein coupled receptor 161-like isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "gpr161a", "type": "recommended" }, { "name": "gpr161a", "type": "synonym" } ], "record_id": "E7FAM4-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "uniprot_canonical_ac": "E7EZ94-1", "uniprot_ac": "E7EZ94", "uniprot_id": "E7EZ94_DANRE", "refseq_ac": "NP_001314691", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "glutathione transferase", "type": "recommended" }, { "name": "2.5.1.18", "type": "synonym" }, { "name": "glutathione S-transferase theta 1", "type": "synonym" }, { "name": "glutathione S-transferase theta-1a", "type": "synonym" } ], "gene_names": [ { "name": "gstt1a", "type": "recommended" }, { "name": "cb870", "type": "synonym" }, { "name": "gstt1a", "type": "synonym" }, { "name": "gstt1", "type": "synonym" } ], "record_id": "E7EZ94-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "uniprot_canonical_ac": "Q98864-1", "uniprot_ac": "Q98864", "uniprot_id": "PTC1_DANRE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein patched homolog 1", "type": "recommended" }, { "name": "PTC1", "type": "synonym" }, { "name": "Patched 1", "type": "synonym" } ], "gene_names": [ { "name": "ptch1", "type": "recommended" }, { "name": "ptch2", "type": "recommended" }, { "name": "blowout", "type": "synonym" }, { "name": "blw", "type": "synonym" }, { "name": "etlD309849.2", "type": "synonym" }, { "name": "ptc-1", "type": "synonym" }, { "name": "ptc1", "type": "synonym" }, { "name": "ptch1", "type": "synonym" } ], "record_id": "Q98864-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": 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"Platelet-derived growth factor receptor alpha", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "Alpha platelet-derived growth factor receptor", "type": "synonym" }, { "name": "Alpha-type platelet-derived growth factor receptor", "type": "synonym" }, { "name": "PDGF-R-alpha", "type": "synonym" }, { "name": "PDGFR-alpha", "type": "synonym" }, { "name": "alpha-type platelet-derived growth factor receptor", "type": "synonym" }, { "name": "platelet-derived growth factor receptor alpha precursor", "type": "synonym" }, { "name": "platelet-derived growth factor receptor alpha", "type": "synonym" } ], "gene_names": [ { "name": "pdgfra", "type": "recommended" }, { "name": "etID309717.20", "type": "synonym" }, { "name": "pdgfr-a", "type": "synonym" }, { "name": "pdgfra", "type": "synonym" }, { "name": "wu:fc27f02", "type": "synonym" }, { "name": "wu:fv91b12", "type": "synonym" } ], "record_id": "Q9DE49-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": 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norvegicus [10116]" } ], "protein_names": [ { "name": "Dolichol phosphate-mannose biosynthesis regulatory protein", "type": "recommended" }, { "name": "DPM synthase subunit 2", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase subunit 2", "type": "synonym" }, { "name": "dolichol phosphate-mannose biosynthesis regulatory protein", "type": "synonym" }, { "name": "dolichol-phosphate (beta-D) mannosyltransferase 2", "type": "synonym" }, { "name": "dolichol-phosphate mannose synthase subunit 2", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase 2", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit", "type": "synonym" } ], "gene_names": [ { "name": "Dpm2", "type": "recommended" }, { "name": "Pip5kl1", "type": "recommended" }, { "name": "Dpm2", "type": "synonym" }, { "name": "Pip5kl1", "type": "synonym" } ], "record_id": "Q9Z325-1", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "uniprot_canonical_ac": "Q9Y1T2-1", "uniprot_ac": "Q9Y1T2", "uniprot_id": "Q9Y1T2_DROME", "refseq_ac": "NP_001334699", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Adenomatous polyposis coli 2, isoform A", "type": "synonym" }, { "name": "Adenomatous polyposis coli 2, isoform C", "type": "synonym" }, { "name": "Apc2-PC", "type": "synonym" }, { "name": "CG6193-PC", "type": "synonym" }, { "name": "adenomatous polyposis coli 2, isoform C", "type": "synonym" }, { "name": "adenomatous polyposis coli 2", "type": "synonym" }, { "name": "adenomatous polyposis coli tumor suppressor homolog 2", "type": "synonym" }, { "name": "epithelial adenomatous polyposis coli", "type": "synonym" } ], "gene_names": [ { "name": "Apc2", "type": "recommended" }, { 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