{
    "disease_id": "DOID:0070074",
    "recommended_name": {
        "id": "DOID:0070074",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070074",
        "name": "autosomal dominant intellectual developmental disorder 44",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070074",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070074",
            "name": "MRD44",
            "description": ""
        },
        {
            "id": "DOID:0070074",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070074",
            "name": "autosomal dominant mental retardation 44",
            "description": ""
        },
        {
            "id": "DOID:0070074",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070074",
            "name": "autosomal dominant non-syndromic intellectual disability 44",
            "description": ""
        },
        {
            "id": "DOID:0070074",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070074",
            "name": "autosomal dominant intellectual developmental disorder 44 with microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "name": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "name": "MEBAS",
            "description": ""
        },
        {
            "id": "MONDO:0014892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "name": "MRD44",
            "description": ""
        },
        {
            "id": "MONDO:0014892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "name": "autosomal dominant intellectual disability 44",
            "description": ""
        },
        {
            "id": "MONDO:0014892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "name": "intellectual developmental disorder, autosomal dominant 44, with microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "name": "mercer-Ba syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "name": "mental retardation, autosomal dominant 44",
            "description": ""
        },
        {
            "id": "MIM:617061",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617061",
            "name": "Intellectual developmental disorder, autosomal dominant 44, with microcephaly",
            "description": "Intellectual developmental disorder, autosomal dominant 44, with microcephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070074"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070074",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070074",
            "categories": []
        },
        {
            "id": "MONDO:0014892",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014892",
            "categories": []
        },
        {
            "id": "MIM:617061",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617061",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LUA6-1",
            "uniprot_ac": "Q1LUA6",
            "uniprot_id": "TRIO_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": "Triple functional domain protein",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trioa",
                    "type": "recommended"
                },
                {
                    "name": "trio",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-13c6.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-158b13.2",
                    "type": "synonym"
                },
                {
                    "name": "trio",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LUA6-1",
            "evidence": [
                {
                    "id": "0070074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KL02-1",
            "uniprot_ac": "Q0KL02",
            "uniprot_id": "TRIO_MOUSE",
            "refseq_ac": "NP_001074771",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triple functional domain protein",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "triple functional domain protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trio",
                    "type": "recommended"
                },
                {
                    "name": "6720464I07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Solo",
                    "type": "synonym"
                },
                {
                    "name": "Trio",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KL02-1",
            "evidence": [
                {
                    "id": "0070074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75962-1",
            "uniprot_ac": "O75962",
            "uniprot_id": "TRIO_HUMAN",
            "refseq_ac": "NP_009049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triple functional domain protein",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PTPRF-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "triple functional domain (PTPRF interacting)",
                    "type": "synonym"
                },
                {
                    "name": "triple functional domain protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIO",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF23",
                    "type": "synonym"
                },
                {
                    "name": "MEBAS",
                    "type": "synonym"
                },
                {
                    "name": "MRD44",
                    "type": "synonym"
                },
                {
                    "name": "MRD63",
                    "type": "synonym"
                },
                {
                    "name": "TRIO",
                    "type": "synonym"
                },
                {
                    "name": "tgat",
                    "type": "synonym"
                }
            ],
            "record_id": "O75962-1",
            "evidence": [
                {
                    "id": "617061",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617061"
                },
                {
                    "id": "0070074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M0Z1-1",
            "uniprot_ac": "F1M0Z1",
            "uniprot_id": "TRIO_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triple functional domain protein",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PTPRF-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trio",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M0Z1-1",
            "evidence": [
                {
                    "id": "0070074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAQ3-1",
            "uniprot_ac": "A1ZAQ3",
            "uniprot_id": "A1ZAQ3_DROME",
            "refseq_ac": "NP_611188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DH domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG46491-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG15612",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG46491",
                    "type": "recommended"
                },
                {
                    "name": "CG15612",
                    "type": "synonym"
                },
                {
                    "name": "CG15613",
                    "type": "synonym"
                },
                {
                    "name": "CG30456",
                    "type": "synonym"
                },
                {
                    "name": "CG46491",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG46491",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG46491",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAQ3-1",
            "evidence": [
                {
                    "id": "0070074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVD1-1",
            "uniprot_ac": "Q7KVD1",
            "uniprot_id": "Q7KVD1_DROME",
            "refseq_ac": "NP_651960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG18214-PA",
                    "type": "synonym"
                },
                {
                    "name": "Trio, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Trio, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "trio, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "trio-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trio",
                    "type": "recommended"
                },
                {
                    "name": "0368/10",
                    "type": "synonym"
                },
                {
                    "name": "03",
                    "type": "synonym"
                },
                {
                    "name": "06]",
                    "type": "synonym"
                },
                {
                    "name": "06",
                    "type": "synonym"
                },
                {
                    "name": "0959/14",
                    "type": "synonym"
                },
                {
                    "name": "10",
                    "type": "synonym"
                },
                {
                    "name": "1372/03",
                    "type": "synonym"
                },
                {
                    "name": "1386/06",
                    "type": "synonym"
                },
                {
                    "name": "14",
                    "type": "synonym"
                },
                {
                    "name": "3]",
                    "type": "synonym"
                },
                {
                    "name": "BEST:LD36950",
                    "type": "synonym"
                },
                {
                    "name": "CG18214",
                    "type": "synonym"
                },
                {
                    "name": "CG9208",
                    "type": "synonym"
                },
                {
                    "name": "DTrio",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18214",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18214",
                    "type": "synonym"
                },
                {
                    "name": "M89",
                    "type": "synonym"
                },
                {
                    "name": "TRIO",
                    "type": "synonym"
                },
                {
                    "name": "Trio",
                    "type": "synonym"
                },
                {
                    "name": "UNC-73/Trio",
                    "type": "synonym"
                },
                {
                    "name": "dTrio",
                    "type": "synonym"
                },
                {
                    "name": "l(3)036810",
                    "type": "synonym"
                },
                {
                    "name": "l(3)6D104",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S036810",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S095914",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S137203",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S138606",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S[1372/3]",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S[1386/06]",
                    "type": "synonym"
                },
                {
                    "name": "l(3)trio",
                    "type": "synonym"
                },
                {
                    "name": "trio",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVD1-1",
            "evidence": [
                {
                    "id": "0070074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070074"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070074"
}