{
    "disease_id": "DOID:0070071",
    "recommended_name": {
        "id": "DOID:0070071",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070071",
        "name": "autosomal dominant intellectual developmental disorder 41",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32."
    },
    "synonyms": [
        {
            "id": "DOID:0070071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070071",
            "name": "MRD41",
            "description": ""
        },
        {
            "id": "DOID:0070071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070071",
            "name": "autosomal dominant mental retardation 41",
            "description": ""
        },
        {
            "id": "DOID:0070071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070071",
            "name": "autosomal dominant non-syndromic intellectual disability 41",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "intellectual disability, autosomal dominant 41",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene."
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "MRD41",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "TBL1XR1 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "autosomal dominant intellectual disability 41",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "intellectual disability, autosomal dominant 41",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "intellectual disability, autosomal dominant type 41",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "mental retardation, autosomal dominant 41",
            "description": ""
        },
        {
            "id": "MONDO:0014842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "name": "mental retardation, autosomal dominant type 41",
            "description": ""
        },
        {
            "id": "MIM:616944",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616944",
            "name": "Intellectual developmental disorder, autosomal dominant 41",
            "description": "Intellectual developmental disorder, autosomal dominant 41"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070071"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070071",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070071",
            "categories": []
        },
        {
            "id": "MONDO:0014842",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014842",
            "categories": []
        },
        {
            "id": "MIM:616944",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616944",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5WVU0-1",
            "uniprot_ac": "A5WVU0",
            "uniprot_id": "A5WVU0_DANRE",
            "refseq_ac": "NP_001313469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1b",
                    "type": "synonym"
                },
                {
                    "name": "tbl1x receptor 1b",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1 X-linked receptor 1b",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1 X-linked receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbl1xr1b",
                    "type": "recommended"
                },
                {
                    "name": "tbl1xr1b",
                    "type": "synonym"
                },
                {
                    "name": "tbl1xr1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63617",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WVU0-1",
            "evidence": [
                {
                    "id": "0070071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5PF33-1",
            "uniprot_ac": "A5PF33",
            "uniprot_id": "A5PF33_DANRE",
            "refseq_ac": "XP_005172880",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbl1xr1a",
                    "type": "recommended"
                },
                {
                    "name": "CH211-51H4.1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "fc46g07",
                    "type": "synonym"
                },
                {
                    "name": "tbl1xr1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc46g07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110312",
                    "type": "synonym"
                }
            ],
            "record_id": "A5PF33-1",
            "evidence": [
                {
                    "id": "0070071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHJ5-1",
            "uniprot_ac": "Q8BHJ5",
            "uniprot_id": "TBL1R_MOUSE",
            "refseq_ac": "NP_109657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1X-linked receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbl1xr1",
                    "type": "recommended"
                },
                {
                    "name": "8030499H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "A630076E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "C21",
                    "type": "synonym"
                },
                {
                    "name": "C230089I12Rik",
                    "type": "synonym"
                },
                {
                    "name": "DC42",
                    "type": "synonym"
                },
                {
                    "name": "Ira1",
                    "type": "synonym"
                },
                {
                    "name": "TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1xr1",
                    "type": "synonym"
                },
                {
                    "name": "Tblr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHJ5-1",
            "evidence": [
                {
                    "id": "0070071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZK7-1",
            "uniprot_ac": "Q9BZK7",
            "uniprot_id": "TBL1R_HUMAN",
            "refseq_ac": "NP_001308122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1X receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta like 1 X-linked receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "C21",
                    "type": "synonym"
                },
                {
                    "name": "DC42",
                    "type": "synonym"
                },
                {
                    "name": "IRA1",
                    "type": "synonym"
                },
                {
                    "name": "MRD41",
                    "type": "synonym"
                },
                {
                    "name": "TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "TBLR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZK7-1",
            "evidence": [
                {
                    "id": "616944",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616944"
                },
                {
                    "id": "0070071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38262-1",
            "uniprot_ac": "P38262",
            "uniprot_id": "SIF2_YEAST",
            "refseq_ac": "NP_009661",
            "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": "SIR4-interacting protein SIF2",
                    "type": "recommended"
                },
                {
                    "name": "Sif2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIF2",
                    "type": "recommended"
                },
                {
                    "name": "EMB1",
                    "type": "synonym"
                },
                {
                    "name": "SIF2",
                    "type": "synonym"
                },
                {
                    "name": "YBR0832",
                    "type": "synonym"
                }
            ],
            "record_id": "P38262-1",
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                {
                    "id": "0070071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNF4-1",
            "uniprot_ac": "D3ZNF4",
            "uniprot_id": "D3ZNF4_RAT",
            "refseq_ac": "NP_001102411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1X receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1 X-linked receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbl1xr1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560053",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1xr1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95RJ9-1",
            "uniprot_ac": "Q95RJ9",
            "uniprot_id": "EBI_DROME",
            "refseq_ac": "NP_477329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein ebi",
                    "type": "recommended"
                },
                {
                    "name": "CG4063-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta transducin-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "ebi-PA",
                    "type": "synonym"
                },
                {
                    "name": "ebi",
                    "type": "synonym"
                },
                {
                    "name": "enhancer on chromosome 2-complementation group 2g",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ebi",
                    "type": "recommended"
                },
                {
                    "name": "CG4063",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4063",
                    "type": "synonym"
                },
                {
                    "name": "E-2f",
                    "type": "synonym"
                },
                {
                    "name": "E-2g",
                    "type": "synonym"
                },
                {
                    "name": "Ebi",
                    "type": "synonym"
                },
                {
                    "name": "FBXW4",
                    "type": "synonym"
                },
                {
                    "name": "Tb11",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1",
                    "type": "synonym"
                },
                {
                    "name": "ebi",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16213",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95RJ9-1",
            "evidence": [
                {
                    "id": "0070071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070071"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070071"
}