{
    "disease_id": "DOID:0112045",
    "recommended_name": {
        "id": "DOID:0112045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112045",
        "name": "non-syndromic X-linked intellectual disability 93",
        "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112045",
            "name": "MRX93",
            "description": ""
        },
        {
            "id": "DOID:0112045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112045",
            "name": "X-linked mental retardation 93",
            "description": ""
        },
        {
            "id": "DOID:0112045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112045",
            "name": "X-linked mental retardation with macrocephaly",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "intellectual disability, X-linked 93",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene."
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "BRWD3 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "intellectual developmental disorder, X-linked 93, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "intellectual disability, X-linked 93",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "intellectual disability, X-linked type 93",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "mental retardation, X-linked type 93",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in BRWD3",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "MRX93",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "mental retardation, X-linked 93",
            "description": ""
        },
        {
            "id": "MONDO:0010393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "name": "mental retardation, X-linked, with macrocephaly",
            "description": ""
        },
        {
            "id": "MIM:300659",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300659",
            "name": "Intellectual developmental disorder, X-linked 93",
            "description": "Intellectual developmental disorder, X-linked 93"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112045"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112045",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112045",
            "categories": []
        },
        {
            "id": "MONDO:0010393",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010393",
            "categories": []
        },
        {
            "id": "MIM:300659",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300659",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQW9-1",
            "uniprot_ac": "A0A8M9PQW9",
            "uniprot_id": "A0A8M9PQW9_DANRE",
            "refseq_ac": "XP_021327269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain and WD repeat-containing protein 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain and WD repeat-containing protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brwd3",
                    "type": "recommended"
                },
                {
                    "name": "brwd3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PQW9-1",
            "evidence": [
                {
                    "id": "0112045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AHJ4-1",
            "uniprot_ac": "A2AHJ4",
            "uniprot_id": "BRWD3_MOUSE",
            "refseq_ac": "NP_001074946",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain and WD repeat-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "bromo domain-containing protein disrupted in leukemia",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain and WD repeat-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brwd3",
                    "type": "recommended"
                },
                {
                    "name": "Brodl",
                    "type": "synonym"
                },
                {
                    "name": "Brwd3",
                    "type": "synonym"
                },
                {
                    "name": "D030064D06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm10452",
                    "type": "synonym"
                },
                {
                    "name": "Gm596",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AHJ4-1",
            "evidence": [
                {
                    "id": "0112045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6RI45-1",
            "uniprot_ac": "Q6RI45",
            "uniprot_id": "BRWD3_HUMAN",
            "refseq_ac": "XP_016884873",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain and WD repeat-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "bromodomain and WD repeat-containing protein 3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRWD3",
                    "type": "recommended"
                },
                {
                    "name": "BRODL",
                    "type": "synonym"
                },
                {
                    "name": "BRWD3",
                    "type": "synonym"
                },
                {
                    "name": "DCAF20",
                    "type": "synonym"
                },
                {
                    "name": "MRX93",
                    "type": "synonym"
                },
                {
                    "name": "XLID93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6RI45-1",
            "evidence": [
                {
                    "id": "300659",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300659"
                },
                {
                    "id": "0112045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZZE0-1",
            "uniprot_ac": "A0A8I5ZZE0",
            "uniprot_id": "A0A8I5ZZE0_RAT",
            "refseq_ac": "XP_008771579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain and WD repeat-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "bromodomain and WD repeat-containing protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brwd3",
                    "type": "recommended"
                },
                {
                    "name": "Brwd3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZZE0-1",
            "evidence": [
                {
                    "id": "0112045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC96-1",
            "uniprot_ac": "Q9VC96",
            "uniprot_id": "Q9VC96_DROME",
            "refseq_ac": "NP_732982",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BRWD3-PA",
                    "type": "synonym"
                },
                {
                    "name": "BRWD3",
                    "type": "synonym"
                },
                {
                    "name": "CG31132-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 05842",
                    "type": "synonym"
                },
                {
                    "name": "ramshackle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRWD3",
                    "type": "recommended"
                },
                {
                    "name": "BRWD3",
                    "type": "synonym"
                },
                {
                    "name": "Brwd3",
                    "type": "synonym"
                },
                {
                    "name": "CG18670",
                    "type": "synonym"
                },
                {
                    "name": "CG31132",
                    "type": "synonym"
                },
                {
                    "name": "CG6400",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31132",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31132",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.520",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.620",
                    "type": "synonym"
                },
                {
                    "name": "brwd3",
                    "type": "synonym"
                },
                {
                    "name": "dBRWD3",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05842",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s5349",
                    "type": "synonym"
                },
                {
                    "name": "psg13",
                    "type": "synonym"
                },
                {
                    "name": "ram",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC96-1",
            "evidence": [
                {
                    "id": "0112045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112045"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112045"
}