{
    "disease_id": "DOID:0061034",
    "recommended_name": {
        "id": "DOID:0061034",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061034",
        "name": "autosomal dominant intellectual developmental disorder 61",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0032485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032485",
            "name": "intellectual developmental disorder 61",
            "description": ""
        },
        {
            "id": "MONDO:0032485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032485",
            "name": "MRD61",
            "description": ""
        },
        {
            "id": "MIM:618009",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618009",
            "name": "Intellectual developmental disorder, autosomal dominant 61",
            "description": "Intellectual developmental disorder, autosomal dominant 61"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061034"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061034",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061034",
            "categories": []
        },
        {
            "id": "MONDO:0032485",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032485",
            "categories": []
        },
        {
            "id": "MIM:618009",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618009",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2VCZ5-1",
            "uniprot_ac": "A2VCZ5",
            "uniprot_id": "MD13L_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "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 13-like",
                    "type": "recommended"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 240 kDa component-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zgc:153454",
                    "type": "synonym"
                }
            ],
            "record_id": "A2VCZ5-1",
            "evidence": [
                {
                    "id": "0061034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FCQ8-1",
            "uniprot_ac": "E7FCQ8",
            "uniprot_id": "E7FCQ8_DANRE",
            "refseq_ac": "NP_001268397",
            "glycoprotein": "yes",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "mediator complex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 13a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "med13a",
                    "type": "recommended"
                },
                {
                    "name": "im:7158513",
                    "type": "synonym"
                },
                {
                    "name": "med13a",
                    "type": "synonym"
                },
                {
                    "name": "med13",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-53h3.2",
                    "type": "synonym"
                },
                {
                    "name": "thrap1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCQ8-1",
            "evidence": [
                {
                    "id": "0061034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SWW4-1",
            "uniprot_ac": "Q5SWW4",
            "uniprot_id": "MED13_MOUSE",
            "refseq_ac": "NP_001074400",
            "glycoprotein": "yes",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 240 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Trap240",
                    "type": "synonym"
                },
                {
                    "name": "Zmediator complex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription, subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor associated protein, 240 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 240 kDa component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med13",
                    "type": "recommended"
                },
                {
                    "name": "1110067M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "D030023K18",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0593",
                    "type": "synonym"
                },
                {
                    "name": "Med13",
                    "type": "synonym"
                },
                {
                    "name": "Thrap1",
                    "type": "synonym"
                },
                {
                    "name": "Trap240",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SWW4-1",
            "evidence": [
                {
                    "id": "0061034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHV7-1",
            "uniprot_ac": "Q9UHV7",
            "uniprot_id": "MED13_HUMAN",
            "refseq_ac": "NP_005112",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "ARC250",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 250 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "DRIP250",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 240 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Trap240",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin D3 receptor-interacting protein complex component DRIP250",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 250 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription, subunit 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 240 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex component TRAP240",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein, 240 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor-interacting protein complex component DRIP250",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED13",
                    "type": "recommended"
                },
                {
                    "name": "ARC250",
                    "type": "synonym"
                },
                {
                    "name": "DRIP250",
                    "type": "synonym"
                },
                {
                    "name": "HSPC221",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0593",
                    "type": "synonym"
                },
                {
                    "name": "MED13",
                    "type": "synonym"
                },
                {
                    "name": "MRD61",
                    "type": "synonym"
                },
                {
                    "name": "THRAP1",
                    "type": "synonym"
                },
                {
                    "name": "TRAP240",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHV7-1",
            "evidence": [
                {
                    "id": "618009",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618009"
                },
                {
                    "id": "0061034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38931-1",
            "uniprot_ac": "P38931",
            "uniprot_id": "SSN2_YEAST",
            "refseq_ac": "NP_010731",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 13",
                    "type": "recommended"
                },
                {
                    "name": "Mediator complex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "Protein SCA1",
                    "type": "synonym"
                },
                {
                    "name": "Ssn2p",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of RNA polymerase B SSN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSN2",
                    "type": "recommended"
                },
                {
                    "name": "MED13",
                    "type": "synonym"
                },
                {
                    "name": "NUT8",
                    "type": "synonym"
                },
                {
                    "name": "RYE3",
                    "type": "synonym"
                },
                {
                    "name": "SCA1",
                    "type": "synonym"
                },
                {
                    "name": "SRB9",
                    "type": "synonym"
                },
                {
                    "name": "SSN2",
                    "type": "synonym"
                },
                {
                    "name": "SSX5",
                    "type": "synonym"
                },
                {
                    "name": "UME2",
                    "type": "synonym"
                }
            ],
            "record_id": "P38931-1",
            "evidence": [
                {
                    "id": "0061034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LXU0-1",
            "uniprot_ac": "F1LXU0",
            "uniprot_id": "F1LXU0_RAT",
            "refseq_ac": "NP_001402014",
            "glycoprotein": "yes",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med13",
                    "type": "recommended"
                },
                {
                    "name": "Med13",
                    "type": "synonym"
                },
                {
                    "name": "Thrap1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LXU0-1",
            "evidence": [
                {
                    "id": "0061034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KTX8-1",
            "uniprot_ac": "Q7KTX8",
            "uniprot_id": "MED13_DROME",
            "refseq_ac": "NP_524653",
            "glycoprotein": "yes",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "CG9936-PD",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit Skuld",
                    "type": "synonym"
                },
                {
                    "name": "Protein blind spot",
                    "type": "synonym"
                },
                {
                    "name": "Protein poils aux pattes",
                    "type": "synonym"
                },
                {
                    "name": "blind spot",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP240",
                    "type": "synonym"
                },
                {
                    "name": "flytrap",
                    "type": "synonym"
                },
                {
                    "name": "mediator complex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "poils aux pattes",
                    "type": "synonym"
                },
                {
                    "name": "skd-PD",
                    "type": "synonym"
                },
                {
                    "name": "skuld, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "skuld",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of constitutively activated Dpp signaling 78",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "skd",
                    "type": "recommended"
                },
                {
                    "name": "Bli",
                    "type": "synonym"
                },
                {
                    "name": "CG9936",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9936",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9936",
                    "type": "synonym"
                },
                {
                    "name": "LD28662",
                    "type": "synonym"
                },
                {
                    "name": "MED13",
                    "type": "synonym"
                },
                {
                    "name": "Med13",
                    "type": "synonym"
                },
                {
                    "name": "Pap/Trap",
                    "type": "synonym"
                },
                {
                    "name": "Pap",
                    "type": "synonym"
                },
                {
                    "name": "SKD",
                    "type": "synonym"
                },
                {
                    "name": "SPH203",
                    "type": "synonym"
                },
                {
                    "name": "Scad78",
                    "type": "synonym"
                },
                {
                    "name": "Skd/Med13",
                    "type": "synonym"
                },
                {
                    "name": "Skd/Pap/Bli",
                    "type": "synonym"
                },
                {
                    "name": "Skd",
                    "type": "synonym"
                },
                {
                    "name": "Srb9/AMIB/PAP/TRAP240",
                    "type": "synonym"
                },
                {
                    "name": "TRAP240",
                    "type": "synonym"
                },
                {
                    "name": "Trap240",
                    "type": "synonym"
                },
                {
                    "name": "Trap",
                    "type": "synonym"
                },
                {
                    "name": "bli",
                    "type": "synonym"
                },
                {
                    "name": "bls",
                    "type": "synonym"
                },
                {
                    "name": "dMED13",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP240",
                    "type": "synonym"
                },
                {
                    "name": "dTrap240",
                    "type": "synonym"
                },
                {
                    "name": "dmMED13",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L7062",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rK760",
                    "type": "synonym"
                },
                {
                    "name": "pap/dTRAP240",
                    "type": "synonym"
                },
                {
                    "name": "pap",
                    "type": "synonym"
                },
                {
                    "name": "siren9",
                    "type": "synonym"
                },
                {
                    "name": "skd/MED13",
                    "type": "synonym"
                },
                {
                    "name": "skd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KTX8-1",
            "evidence": [
                {
                    "id": "0061034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061034"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061034"
}