{
    "disease_id": "DOID:0080234",
    "recommended_name": {
        "id": "DOID:0080234",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080234",
        "name": "Clark-Baraitser syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36."
    },
    "synonyms": [
        {
            "id": "DOID:0080234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080234",
            "name": "autosomal dominant mental retardation 49",
            "description": ""
        },
        {
            "id": "DOID:0080234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080234",
            "name": "Baraitser syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080234",
            "name": "CLABARS",
            "description": ""
        },
        {
            "id": "DOID:0080234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080234",
            "name": "autosomal dominant intellectual disability 49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "Clark-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "Clark-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "MRD49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "intellectual disability, autosomal dominant 49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "autosomal dominant mental retardation 49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "intellectual disability, tall stature, obesity, macrocephaly and typical facial features",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "mental retardation, autosomal dominant 49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "mental retardation, tall stature, obesity, macrocephaly and typical facial features",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "Clark-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "Clark-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "MRD49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "intellectual disability, autosomal dominant 49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "autosomal dominant mental retardation 49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "intellectual disability, tall stature, obesity, macrocephaly and typical facial features",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "mental retardation, autosomal dominant 49",
            "description": ""
        },
        {
            "id": "MONDO:0030914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "name": "mental retardation, tall stature, obesity, macrocephaly and typical facial features",
            "description": ""
        },
        {
            "id": "MIM:617752",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617752",
            "name": "Clark-Baraitser syndrome",
            "description": "Clark-Baraitser syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080234"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080234",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080234",
            "categories": []
        },
        {
            "id": "MONDO:0030914",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030914",
            "categories": []
        },
        {
            "id": "MIM:617752",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617752",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RCR6-1",
            "uniprot_ac": "F1RCR6",
            "uniprot_id": "TRIPC_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": "E3 ubiquitin-protein ligase TRIP12",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-12",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trip12",
                    "type": "recommended"
                },
                {
                    "name": "im:7149446",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-272f3.4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RCR6-1",
            "evidence": [
                {
                    "id": "0080234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G5E870-1",
            "uniprot_ac": "G5E870",
            "uniprot_id": "TRIPC_MOUSE",
            "refseq_ac": "NP_598736",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIP12",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-12",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "gene trap locus 6",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor interactor TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trip12",
                    "type": "recommended"
                },
                {
                    "name": "1110036I07Rik",
                    "type": "synonym"
                },
                {
                    "name": "6720416K24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gtl6",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-12",
                    "type": "synonym"
                },
                {
                    "name": "Trip12",
                    "type": "synonym"
                }
            ],
            "record_id": "G5E870-1",
            "evidence": [
                {
                    "id": "0080234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14669-1",
            "uniprot_ac": "Q14669",
            "uniprot_id": "TRIPC_HUMAN",
            "refseq_ac": "NP_001271143",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIP12",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIP12 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase for Arf",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-12",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "ULF",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor interacting protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIP12",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0045",
                    "type": "synonym"
                },
                {
                    "name": "MRD49",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-12",
                    "type": "synonym"
                },
                {
                    "name": "TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "TRIPC",
                    "type": "synonym"
                },
                {
                    "name": "ULF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14669-1",
            "evidence": [
                {
                    "id": "617752",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617752"
                },
                {
                    "id": "0080234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33202-1",
            "uniprot_ac": "P33202",
            "uniprot_id": "UFD4_YEAST",
            "refseq_ac": "NP_012915",
            "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": "Ubiquitin fusion degradation protein 4",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase UFD4",
                    "type": "synonym"
                },
                {
                    "name": "UB fusion protein 4",
                    "type": "synonym"
                },
                {
                    "name": "putative ubiquitin-protein ligase UFD4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UFD4",
                    "type": "recommended"
                },
                {
                    "name": "UFD4",
                    "type": "synonym"
                },
                {
                    "name": "YKL162",
                    "type": "synonym"
                }
            ],
            "record_id": "P33202-1",
            "evidence": [
                {
                    "id": "0080234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LP64-1",
            "uniprot_ac": "F1LP64",
            "uniprot_id": "TRIPC_RAT",
            "refseq_ac": "NP_001026829",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIP12",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-12",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "gene trap locus 6",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trip12",
                    "type": "recommended"
                },
                {
                    "name": "Gtl6",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-12",
                    "type": "synonym"
                },
                {
                    "name": "Trip12",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LP64-1",
            "evidence": [
                {
                    "id": "0080234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN58-1",
            "uniprot_ac": "Q9VN58",
            "uniprot_id": "Q9VN58_DROME",
            "refseq_ac": "NP_001189170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "CG42574-PB",
                    "type": "synonym"
                },
                {
                    "name": "circadian trip, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ctrip-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctrip",
                    "type": "recommended"
                },
                {
                    "name": "CG14656",
                    "type": "synonym"
                },
                {
                    "name": "CG17735",
                    "type": "synonym"
                },
                {
                    "name": "CG42574",
                    "type": "synonym"
                },
                {
                    "name": "CTRIP/TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "CTRIP",
                    "type": "synonym"
                },
                {
                    "name": "Ctrip",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42574",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42574",
                    "type": "synonym"
                },
                {
                    "name": "TRIP12",
                    "type": "synonym"
                },
                {
                    "name": "ctrip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN58-1",
            "evidence": [
                {
                    "id": "0080234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080234"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080234"
}