{
    "disease_id": "DOID:0061126",
    "recommended_name": {
        "id": "DOID:0061126",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061126",
        "name": "Brunet-Wagner neurodevelopmental syndrome",
        "description": "An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12."
    },
    "synonyms": [
        {
            "id": "DOID:0061126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061126",
            "name": "BRUWAG",
            "description": ""
        },
        {
            "id": "MONDO:0859217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859217",
            "name": "Brunet-Wagner neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "MIM:619690",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619690",
            "name": "Brunet-Wagner neurodevelopmental syndrome",
            "description": "Brunet-Wagner neurodevelopmental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061126"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061126",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061126",
            "categories": []
        },
        {
            "id": "MONDO:0859217",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859217",
            "categories": []
        },
        {
            "id": "MIM:619690",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619690",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5T3-1",
            "uniprot_ac": "A0ACD6B5T3",
            "uniprot_id": "A0ACD6B5T3_DANRE",
            "refseq_ac": "XP_002667000",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoblastoma-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa retinoblastoma-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "pRb2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rbl2",
                    "type": "recommended"
                },
                {
                    "name": "rbl2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5T3-1",
            "evidence": [
                {
                    "id": "0061126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64700-1",
            "uniprot_ac": "Q64700",
            "uniprot_id": "RBL2_MOUSE",
            "refseq_ac": "NP_001268929",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoblastoma-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa retinoblastoma-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "RBR-2",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p130",
                    "type": "synonym"
                },
                {
                    "name": "pRb2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbl2",
                    "type": "recommended"
                },
                {
                    "name": "PRB2",
                    "type": "synonym"
                },
                {
                    "name": "RBR-2",
                    "type": "synonym"
                },
                {
                    "name": "Rb2",
                    "type": "synonym"
                },
                {
                    "name": "Rbl2",
                    "type": "synonym"
                },
                {
                    "name": "p130",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64700-1",
            "evidence": [
                {
                    "id": "0061126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08999-1",
            "uniprot_ac": "Q08999",
            "uniprot_id": "RBL2_HUMAN",
            "refseq_ac": "NP_001310537",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoblastoma-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa retinoblastoma-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "PRB2",
                    "type": "synonym"
                },
                {
                    "name": "RBR-2",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p130",
                    "type": "synonym"
                },
                {
                    "name": "pRb2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBL2",
                    "type": "recommended"
                },
                {
                    "name": "BRUWAG",
                    "type": "synonym"
                },
                {
                    "name": "P130",
                    "type": "synonym"
                },
                {
                    "name": "RB2",
                    "type": "synonym"
                },
                {
                    "name": "RBL2",
                    "type": "synonym"
                },
                {
                    "name": "Rb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08999-1",
            "evidence": [
                {
                    "id": "619690",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619690"
                },
                {
                    "id": "0061126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55081-1",
            "uniprot_ac": "O55081",
            "uniprot_id": "RBL2_RAT",
            "refseq_ac": "NP_112356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoblastoma-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa retinoblastoma-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "P130",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-alpha-interacting complex protein 128",
                    "type": "synonym"
                },
                {
                    "name": "PRB2",
                    "type": "synonym"
                },
                {
                    "name": "PRIC128",
                    "type": "synonym"
                },
                {
                    "name": "RBR-2",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p130",
                    "type": "synonym"
                },
                {
                    "name": "pRb2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbl2",
                    "type": "recommended"
                },
                {
                    "name": "Rb2",
                    "type": "synonym"
                },
                {
                    "name": "Rbl2",
                    "type": "synonym"
                }
            ],
            "record_id": "O55081-1",
            "evidence": [
                {
                    "id": "0061126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24472-1",
            "uniprot_ac": "Q24472",
            "uniprot_id": "RBF_DROME",
            "refseq_ac": "NP_525036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoblastoma family protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7413-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rbf-PA",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-family protein",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma factor-1",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma family protein 1",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-family homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbf",
                    "type": "recommended"
                },
                {
                    "name": "CG7413",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7413",
                    "type": "synonym"
                },
                {
                    "name": "EG:34F3.3",
                    "type": "synonym"
                },
                {
                    "name": "FBF",
                    "type": "synonym"
                },
                {
                    "name": "RBF1",
                    "type": "synonym"
                },
                {
                    "name": "RBF",
                    "type": "synonym"
                },
                {
                    "name": "RBf1",
                    "type": "synonym"
                },
                {
                    "name": "RB",
                    "type": "synonym"
                },
                {
                    "name": "Rb1",
                    "type": "synonym"
                },
                {
                    "name": "RbF1",
                    "type": "synonym"
                },
                {
                    "name": "RbF",
                    "type": "synonym"
                },
                {
                    "name": "Rbf1",
                    "type": "synonym"
                },
                {
                    "name": "Rbf",
                    "type": "synonym"
                },
                {
                    "name": "Rb",
                    "type": "synonym"
                },
                {
                    "name": "dRBF",
                    "type": "synonym"
                },
                {
                    "name": "pRb",
                    "type": "synonym"
                },
                {
                    "name": "rbf1",
                    "type": "synonym"
                },
                {
                    "name": "rbf",
                    "type": "synonym"
                },
                {
                    "name": "rb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24472-1",
            "evidence": [
                {
                    "id": "0061126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF04-1",
            "uniprot_ac": "Q9VF04",
            "uniprot_id": "Q9VF04_DROME",
            "refseq_ac": "NP_524372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5083-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rbf2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-family protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbf2",
                    "type": "recommended"
                },
                {
                    "name": "CG5083",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5083",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5083",
                    "type": "synonym"
                },
                {
                    "name": "RBF2",
                    "type": "synonym"
                },
                {
                    "name": "RBf2",
                    "type": "synonym"
                },
                {
                    "name": "RB",
                    "type": "synonym"
                },
                {
                    "name": "Rbf2",
                    "type": "synonym"
                },
                {
                    "name": "rbf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF04-1",
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                {
                    "id": "0061126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13726-1",
            "uniprot_ac": "P13726",
            "uniprot_id": "TF_HUMAN",
            "refseq_ac": "NP_001171567",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tissue factor",
                    "type": "recommended"
                },
                {
                    "name": "Coagulation factor III",
                    "type": "synonym"
                },
                {
                    "name": "TF",
                    "type": "synonym"
                },
                {
                    "name": "Thromboplastin",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor III (thromboplastin, tissue factor)",
                    "type": "synonym"
                },
                {
                    "name": "tissue factor isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F3",
                    "type": "recommended"
                },
                {
                    "name": "CD142",
                    "type": "synonym"
                },
                {
                    "name": "F3",
                    "type": "synonym"
                },
                {
                    "name": "TFA",
                    "type": "synonym"
                },
                {
                    "name": "TF",
                    "type": "synonym"
                }
            ],
            "record_id": "P13726-1",
            "evidence": [
                {
                    "id": "0061126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061126"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061126"
}