{
    "disease_id": "DOID:0081190",
    "recommended_name": {
        "id": "DOID:0081190",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081190",
        "name": "autosomal recessive intellectual developmental disorder 18",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "intellectual disability, autosomal recessive 18",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene."
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "MED23 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "intellectual disability, autosomal recessive 18",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "intellectual disability, autosomal recessive type 18",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "mental retardation, autosomal recessive type 18",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "MED23",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "MRT18",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "autosomal recessive nonsyndromic intellectual disability-18",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "autosomal recessive nonsyndromic mental retardation-18",
            "description": ""
        },
        {
            "id": "MONDO:0013651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "name": "mental retardation, autosomal recessive 18",
            "description": ""
        },
        {
            "id": "MIM:614249",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614249",
            "name": "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy",
            "description": "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081190"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081190",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081190",
            "categories": []
        },
        {
            "id": "MONDO:0013651",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013651",
            "categories": []
        },
        {
            "id": "MIM:614249",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614249",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RIW8-1",
            "uniprot_ac": "Q5RIW8",
            "uniprot_id": "MED23_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 23",
                    "type": "recommended"
                },
                {
                    "name": "CRSP complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "med23",
                    "type": "recommended"
                },
                {
                    "name": "crsp3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-272f15.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91979",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RIW8-1",
            "evidence": [
                {
                    "id": "0081190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80YQ2-1",
            "uniprot_ac": "Q80YQ2",
            "uniprot_id": "MED23_MOUSE",
            "refseq_ac": "NP_001159888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 23",
                    "type": "recommended"
                },
                {
                    "name": "CRSP complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 23",
                    "type": "synonym"
                },
                {
                    "name": "Protein sur-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 3 (130kD)",
                    "type": "synonym"
                },
                {
                    "name": "mSur-2",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 23 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 23",
                    "type": "synonym"
                },
                {
                    "name": "protein sur-2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med23",
                    "type": "recommended"
                },
                {
                    "name": "130kDa",
                    "type": "synonym"
                },
                {
                    "name": "3000002A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Crsp3",
                    "type": "synonym"
                },
                {
                    "name": "ESTM7",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1216",
                    "type": "synonym"
                },
                {
                    "name": "Med23",
                    "type": "synonym"
                },
                {
                    "name": "Sur2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1216",
                    "type": "synonym"
                },
                {
                    "name": "snouty",
                    "type": "synonym"
                },
                {
                    "name": "sno",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80YQ2-1",
            "evidence": [
                {
                    "id": "0081190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULK4-1",
            "uniprot_ac": "Q9ULK4",
            "uniprot_id": "MED23_HUMAN",
            "refseq_ac": "NP_001257450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 23",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa transcriptional co-activator",
                    "type": "synonym"
                },
                {
                    "name": "133 kDa transcriptional co-activator",
                    "type": "synonym"
                },
                {
                    "name": "ARC130",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 130 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CRSP complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "DRIP130",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 23",
                    "type": "synonym"
                },
                {
                    "name": "Protein sur-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator CRSP130",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin D3 receptor-interacting protein complex 130 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 130 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "hSur-2",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 23 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 23",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED23",
                    "type": "recommended"
                },
                {
                    "name": "ARC130",
                    "type": "synonym"
                },
                {
                    "name": "CRSP130",
                    "type": "synonym"
                },
                {
                    "name": "CRSP133",
                    "type": "synonym"
                },
                {
                    "name": "CRSP3",
                    "type": "synonym"
                },
                {
                    "name": "DRIP130",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1216",
                    "type": "synonym"
                },
                {
                    "name": "MED23",
                    "type": "synonym"
                },
                {
                    "name": "MRT18",
                    "type": "synonym"
                },
                {
                    "name": "SUR-2",
                    "type": "synonym"
                },
                {
                    "name": "SUR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULK4-1",
            "evidence": [
                {
                    "id": "614249",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614249"
                },
                {
                    "id": "0081190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5EB59-1",
            "uniprot_ac": "Q5EB59",
            "uniprot_id": "MED23_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 23",
                    "type": "recommended"
                },
                {
                    "name": "CRSP complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med23",
                    "type": "recommended"
                },
                {
                    "name": "Crsp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5EB59-1",
            "evidence": [
                {
                    "id": "0081190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20909-1",
            "uniprot_ac": "P20909",
            "uniprot_id": "COBA1_RAT",
            "refseq_ac": "NP_037249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-1(XI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type a1(XI)6A-7-8",
                    "type": "synonym"
                },
                {
                    "name": "collagen type a1(XI)6B-7",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XI, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen type XI alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col11a1",
                    "type": "recommended"
                },
                {
                    "name": "Col11a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20909-1",
            "evidence": [
                {
                    "id": "0081190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1X7-1",
            "uniprot_ac": "Q9W1X7",
            "uniprot_id": "MED23_DROME",
            "refseq_ac": "NP_611735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 23",
                    "type": "recommended"
                },
                {
                    "name": "CG3695-PA",
                    "type": "synonym"
                },
                {
                    "name": "MED23-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 23",
                    "type": "synonym"
                },
                {
                    "name": "dSUR2",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP150",
                    "type": "synonym"
                },
                {
                    "name": "mediator complex subunit 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED23",
                    "type": "recommended"
                },
                {
                    "name": "CG3695",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3695",
                    "type": "synonym"
                },
                {
                    "name": "Gal11/SUR2",
                    "type": "synonym"
                },
                {
                    "name": "MED23",
                    "type": "synonym"
                },
                {
                    "name": "Med23",
                    "type": "synonym"
                },
                {
                    "name": "Trap150beta",
                    "type": "synonym"
                },
                {
                    "name": "Trap150",
                    "type": "synonym"
                },
                {
                    "name": "dSUR2",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP150beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1X7-1",
            "evidence": [
                {
                    "id": "0081190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081190"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081190"
}