{
    "disease_id": "DOID:0080985",
    "recommended_name": {
        "id": "DOID:0080985",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080985",
        "name": "syndromic X-linked intellectual disorder Lujan-Fryns-type",
        "description": "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype."
    },
    "synonyms": [
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "X-linked intellectual disability with marfanoid habitus",
            "description": "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems."
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Lujan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Lujan-Fryns syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Lujan-Fryns syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "mental retardation, X-linked, with Marfanoid habitus",
            "description": ""
        },
        {
            "id": "MIM:309520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309520",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080985"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080985",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080985",
            "categories": []
        },
        {
            "id": "MONDO:0010655",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "categories": []
        },
        {
            "id": "MIM:309520",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309520",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2QCI8-1",
            "uniprot_ac": "Q2QCI8",
            "uniprot_id": "MED12_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 12",
                    "type": "recommended"
                },
                {
                    "name": "Mediator complex subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "Protein kohtalo",
                    "type": "synonym"
                },
                {
                    "name": "Protein motionless",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 230 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Trap230",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "med12",
                    "type": "recommended"
                },
                {
                    "name": "kgt",
                    "type": "synonym"
                },
                {
                    "name": "kto",
                    "type": "synonym"
                },
                {
                    "name": "mot_m807",
                    "type": "synonym"
                },
                {
                    "name": "mot",
                    "type": "synonym"
                },
                {
                    "name": "shr",
                    "type": "synonym"
                },
                {
                    "name": "trap230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2QCI8-1",
            "evidence": [
                {
                    "id": "0080985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AGH6-1",
            "uniprot_ac": "A2AGH6",
            "uniprot_id": "MED12_MOUSE",
            "refseq_ac": "NP_067496",
            "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 12",
                    "type": "recommended"
                },
                {
                    "name": "Mediator complex subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "OPA-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "OPA-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 230 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Trap230",
                    "type": "synonym"
                },
                {
                    "name": "Trinucleotide repeat-containing gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription, subunit 12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 230 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 11 (THR-associated protein)",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 11 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med12",
                    "type": "recommended"
                },
                {
                    "name": "230kDa",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0192",
                    "type": "synonym"
                },
                {
                    "name": "Med12",
                    "type": "synonym"
                },
                {
                    "name": "Mopa",
                    "type": "synonym"
                },
                {
                    "name": "OPA-1",
                    "type": "synonym"
                },
                {
                    "name": "Tnrc11",
                    "type": "synonym"
                },
                {
                    "name": "Trap230",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AGH6-1",
            "evidence": [
                {
                    "id": "0080985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q93074-1",
            "uniprot_ac": "Q93074",
            "uniprot_id": "MED12_HUMAN",
            "refseq_ac": "NP_005111",
            "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 12",
                    "type": "recommended"
                },
                {
                    "name": "ARC240",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 240 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CAG repeat protein 45",
                    "type": "synonym"
                },
                {
                    "name": "Kohtalo homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "OPA-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 230 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Trap230",
                    "type": "synonym"
                },
                {
                    "name": "Trinucleotide repeat-containing gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 240 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "human opposite paired",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription, subunit 12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative mediator subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 230 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein, 230 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 11 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED12",
                    "type": "recommended"
                },
                {
                    "name": "ARC240",
                    "type": "synonym"
                },
                {
                    "name": "CAGH45",
                    "type": "synonym"
                },
                {
                    "name": "FGS1",
                    "type": "synonym"
                },
                {
                    "name": "HDKR",
                    "type": "synonym"
                },
                {
                    "name": "HOPA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0192",
                    "type": "synonym"
                },
                {
                    "name": "Kto",
                    "type": "synonym"
                },
                {
                    "name": "MED12S",
                    "type": "synonym"
                },
                {
                    "name": "MED12",
                    "type": "synonym"
                },
                {
                    "name": "OHDOX",
                    "type": "synonym"
                },
                {
                    "name": "OKS",
                    "type": "synonym"
                },
                {
                    "name": "OPA1",
                    "type": "synonym"
                },
                {
                    "name": "TNRC11",
                    "type": "synonym"
                },
                {
                    "name": "TRAP230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q93074-1",
            "evidence": [
                {
                    "id": "309520",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309520"
                },
                {
                    "id": "0080985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MKF8-1",
            "uniprot_ac": "A0A096MKF8",
            "uniprot_id": "A0A096MKF8_RAT",
            "refseq_ac": "NP_001401664",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator complex subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 12 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Med12",
                    "type": "recommended"
                },
                {
                    "name": "Med12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MKF8-1",
            "evidence": [
                {
                    "id": "0080985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW47-1",
            "uniprot_ac": "Q9VW47",
            "uniprot_id": "MED12_DROME",
            "refseq_ac": "NP_524786",
            "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 12",
                    "type": "recommended"
                },
                {
                    "name": "CG8491-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit Kohtalo",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP230",
                    "type": "synonym"
                },
                {
                    "name": "khotalo",
                    "type": "synonym"
                },
                {
                    "name": "kohtalo, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "kohtalo",
                    "type": "synonym"
                },
                {
                    "name": "kto-PA",
                    "type": "synonym"
                },
                {
                    "name": "mediator complex subunit 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kto",
                    "type": "recommended"
                },
                {
                    "name": "Brm @ Kto",
                    "type": "synonym"
                },
                {
                    "name": "CG8491",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8491",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8491",
                    "type": "synonym"
                },
                {
                    "name": "KTO",
                    "type": "synonym"
                },
                {
                    "name": "Kto/Med12",
                    "type": "synonym"
                },
                {
                    "name": "Kto",
                    "type": "synonym"
                },
                {
                    "name": "MED12",
                    "type": "synonym"
                },
                {
                    "name": "Med12",
                    "type": "synonym"
                },
                {
                    "name": "SRB8",
                    "type": "synonym"
                },
                {
                    "name": "Srb8/KTO/TRAP230",
                    "type": "synonym"
                },
                {
                    "name": "TRAP230",
                    "type": "synonym"
                },
                {
                    "name": "Trap230",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP230",
                    "type": "synonym"
                },
                {
                    "name": "dTrap230",
                    "type": "synonym"
                },
                {
                    "name": "kto",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDc",
                    "type": "synonym"
                },
                {
                    "name": "med12/kto",
                    "type": "synonym"
                },
                {
                    "name": "med12",
                    "type": "synonym"
                },
                {
                    "name": "psg14",
                    "type": "synonym"
                },
                {
                    "name": "siren1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW47-1",
            "evidence": [
                {
                    "id": "0080985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080985"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080985"
}