{
    "disease_id": "DOID:0060289",
    "recommended_name": {
        "id": "DOID:0060289",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060289",
        "name": "Ohdo syndrome",
        "description": "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."
    },
    "synonyms": [
        {
            "id": "DOID:0060289",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060289",
            "name": "Ohdo blepharophimosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009583",
            "name": "blepharophimosis - intellectual disability syndrome, Ohdo type",
            "description": "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."
        },
        {
            "id": "MONDO:0009583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009583",
            "name": "BMRS, Ohdo type",
            "description": ""
        },
        {
            "id": "MONDO:0009583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009583",
            "name": "Ohdo syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009583",
            "name": "Ohdo-Madokoro-Sonoda syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009583",
            "name": "blepharophimosis syndrome, Ohdo type",
            "description": ""
        },
        {
            "id": "MONDO:0009583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009583",
            "name": "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "blepharophimosis - intellectual disability syndrome, MKB type",
            "description": "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males."
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "BMRS, MKB type",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "BMRS, Maat-Kievit-Brunner type",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "Ohdo syndrome, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "X-linked Ohdo syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "OHDOX",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "Ohdo syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "name": "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type",
            "description": ""
        },
        {
            "id": "MIM:300895",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300895",
            "name": "Ohdo syndrome, X-linked",
            "description": "Ohdo syndrome, X-linked"
        }
    ],
    "children": [
        {
            "id": "DOID:0060290",
            "label": "Ohdo syndrome, SBBYS variant",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060289",
        "DOID:0060290"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060289",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060289",
            "categories": []
        },
        {
            "id": "MONDO:0009583",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009583",
            "categories": []
        },
        {
            "id": "MONDO:0010477",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010477",
            "categories": []
        },
        {
            "id": "MIM:300895",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300895",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "300895",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300895"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060289"
}