{
    "disease_id": "DOID:0070474",
    "recommended_name": {
        "id": "DOID:0070474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070474",
        "name": "childhood-onset neurodegeneration with brain atrophy",
        "description": "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0070474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070474",
            "name": "CONDBA",
            "description": ""
        },
        {
            "id": "DOID:0070474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070474",
            "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",
            "description": ""
        },
        {
            "id": "MONDO:0044701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044701",
            "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",
            "description": ""
        },
        {
            "id": "MONDO:0044701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044701",
            "name": "UBTF-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0044701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044701",
            "name": "CONDBA",
            "description": ""
        },
        {
            "id": "MIM:617672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617672",
            "name": "Neurodegeneration, childhood-onset, with brain atrophy",
            "description": "Neurodegeneration, childhood-onset, with brain atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070474"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070474",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070474",
            "categories": []
        },
        {
            "id": "MONDO:0044701",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044701",
            "categories": []
        },
        {
            "id": "MIM:617672",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617672",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S7C3-1",
            "uniprot_ac": "B0S7C3",
            "uniprot_id": "B0S7C3_DANRE",
            "refseq_ac": "NP_001430154",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Upstream binding transcription factor, like isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "upstream binding transcription factor, like isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ubtfl",
                    "type": "recommended"
                },
                {
                    "name": "Tcfubf",
                    "type": "synonym"
                },
                {
                    "name": "ubtfl",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63557",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S7C3-1",
            "evidence": [
                {
                    "id": "0070474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QZ83-1",
            "uniprot_ac": "F1QZ83",
            "uniprot_id": "F1QZ83_DANRE",
            "refseq_ac": "NP_001005395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "upstream binding transcription factor, RNA polymerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ubtf",
                    "type": "recommended"
                },
                {
                    "name": "si:dz180g5.3",
                    "type": "synonym"
                },
                {
                    "name": "ubtf",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj38c10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QZ83-1",
            "evidence": [
                {
                    "id": "0070474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25976-1",
            "uniprot_ac": "P25976",
            "uniprot_id": "UBF1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "UBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream-binding factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ubtf",
                    "type": "recommended"
                },
                {
                    "name": "Tcfubf",
                    "type": "synonym"
                },
                {
                    "name": "Ubf-1",
                    "type": "synonym"
                },
                {
                    "name": "Ubf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P25976-1",
            "evidence": [
                {
                    "id": "0070474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17480-1",
            "uniprot_ac": "P17480",
            "uniprot_id": "UBF1_HUMAN",
            "refseq_ac": "NP_001070151",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "90-kDa nucleolus organizer region autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Autoantigen NOR-90",
                    "type": "synonym"
                },
                {
                    "name": "UBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "autoantigen NOR-90",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar transcription factor 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "upstream binding transcription factor, RNA polymerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBTF",
                    "type": "recommended"
                },
                {
                    "name": "CONDBA",
                    "type": "synonym"
                },
                {
                    "name": "NOR-90",
                    "type": "synonym"
                },
                {
                    "name": "UBF-1",
                    "type": "synonym"
                },
                {
                    "name": "UBF1",
                    "type": "synonym"
                },
                {
                    "name": "UBF2",
                    "type": "synonym"
                },
                {
                    "name": "UBF",
                    "type": "synonym"
                },
                {
                    "name": "UBTF",
                    "type": "synonym"
                }
            ],
            "record_id": "P17480-1",
            "evidence": [
                {
                    "id": "617672",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617672"
                },
                {
                    "id": "0070474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02486-1",
            "uniprot_ac": "Q02486",
            "uniprot_id": "ABF2_YEAST",
            "refseq_ac": "NP_013788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ARS-binding factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein ABF2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABF2",
                    "type": "recommended"
                },
                {
                    "name": "ABF2",
                    "type": "synonym"
                },
                {
                    "name": "HIM1",
                    "type": "synonym"
                },
                {
                    "name": "YM9916.11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02486-1",
            "evidence": [
                {
                    "id": "0070474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25977-1",
            "uniprot_ac": "P25977",
            "uniprot_id": "UBF1_RAT",
            "refseq_ac": "NP_001099193",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "UBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar transcription factor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor UBF",
                    "type": "synonym"
                },
                {
                    "name": "upstream binding transcription factor, RNA polymerase I",
                    "type": "synonym"
                },
                {
                    "name": "upstream-binding factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ubtf",
                    "type": "recommended"
                },
                {
                    "name": "Tcfubf",
                    "type": "synonym"
                },
                {
                    "name": "Ubf-1",
                    "type": "synonym"
                },
                {
                    "name": "Ubtf",
                    "type": "synonym"
                }
            ],
            "record_id": "P25977-1",
            "evidence": [
                {
                    "id": "0070474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070474"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070474"
}