{
    "disease_id": "DOID:0112041",
    "recommended_name": {
        "id": "DOID:0112041",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112041",
        "name": "non-syndromic X-linked intellectual disability 90",
        "description": "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112041",
            "name": "MRX90",
            "description": ""
        },
        {
            "id": "DOID:0112041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112041",
            "name": "X-linked mental retardation 90",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "intellectual disability, X-linked 90",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene."
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "DLG3 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "intellectual developmental disorder, X-linked 90, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "intellectual disability, X-linked 90",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "intellectual disability, X-linked type 90",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "mental retardation, X-linked type 90",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in DLG3",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "MRX90",
            "description": ""
        },
        {
            "id": "MONDO:0010452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "name": "mental retardation, X-linked 90",
            "description": ""
        },
        {
            "id": "MIM:300850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300850",
            "name": "Intellectual developmental disorder, X-linked 90",
            "description": "Intellectual developmental disorder, X-linked 90"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112041"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112041",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112041",
            "categories": []
        },
        {
            "id": "MONDO:0010452",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010452",
            "categories": []
        },
        {
            "id": "MIM:300850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QGS1-1",
            "uniprot_ac": "A0A8M9QGS1",
            "uniprot_id": "A0A8M9QGS1_DANRE",
            "refseq_ac": "XP_068069473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlg3",
                    "type": "recommended"
                },
                {
                    "name": "dlg3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QGS1-1",
            "evidence": [
                {
                    "id": "0112041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70175-1",
            "uniprot_ac": "P70175",
            "uniprot_id": "DLG3_MOUSE",
            "refseq_ac": "NP_001171249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 3",
                    "type": "recommended"
                },
                {
                    "name": "SAP-102",
                    "type": "synonym"
                },
                {
                    "name": "SAP102",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 102",
                    "type": "synonym"
                },
                {
                    "name": "discs, large homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "synapse-associated protein 102",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dlg3",
                    "type": "recommended"
                },
                {
                    "name": "Dlg3",
                    "type": "synonym"
                },
                {
                    "name": "Dlgh3",
                    "type": "synonym"
                },
                {
                    "name": "SAP102",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1232",
                    "type": "synonym"
                }
            ],
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                    "id": "0112041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92796-1",
            "uniprot_ac": "Q92796",
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            "refseq_ac": "NP_001159750",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 3",
                    "type": "recommended"
                },
                {
                    "name": "Neuroendocrine-DLG",
                    "type": "synonym"
                },
                {
                    "name": "SAP-102",
                    "type": "synonym"
                },
                {
                    "name": "SAP102",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 102",
                    "type": "synonym"
                },
                {
                    "name": "XLMR",
                    "type": "synonym"
                },
                {
                    "name": "discs, large homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine-DLG",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 82",
                    "type": "synonym"
                },
                {
                    "name": "synapse-associated protein 102",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLG3",
                    "type": "recommended"
                },
                {
                    "name": "DLG3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1232",
                    "type": "synonym"
                },
                {
                    "name": "MRX90",
                    "type": "synonym"
                },
                {
                    "name": "MRX",
                    "type": "synonym"
                },
                {
                    "name": "NEDLG",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R82",
                    "type": "synonym"
                },
                {
                    "name": "SAP102",
                    "type": "synonym"
                },
                {
                    "name": "XLID90",
                    "type": "synonym"
                },
                {
                    "name": "XLMR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92796-1",
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                {
                    "id": "300850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300850"
                },
                {
                    "id": "0112041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62936-1",
            "uniprot_ac": "Q62936",
            "uniprot_id": "DLG3_RAT",
            "refseq_ac": "NP_113827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 3",
                    "type": "recommended"
                },
                {
                    "name": "PSD-95/SAP90-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SAP-102",
                    "type": "synonym"
                },
                {
                    "name": "SAP102",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 102",
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                },
                {
                    "name": "discs, large homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3",
                    "type": "synonym"
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                {
                    "name": "synapse-associated protein 102",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dlg3",
                    "type": "recommended"
                },
                {
                    "name": "Dlg3",
                    "type": "synonym"
                },
                {
                    "name": "Dlgh3",
                    "type": "synonym"
                }
            ],
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                    "id": "0112041",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22273-1",
            "uniprot_ac": "P22273",
            "uniprot_id": "IL6RA_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-6 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R 1",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il6r",
                    "type": "recommended"
                },
                {
                    "name": "Il6ra",
                    "type": "synonym"
                }
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                    "id": "0112041",
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            ]
        },
        {
            "uniprot_canonical_ac": "P31007-2",
            "uniprot_ac": "P31007",
            "uniprot_id": "DLG1_DROME",
            "refseq_ac": "NP_001096955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large 1 tumor suppressor protein",
                    "type": "recommended"
                },
                {
                    "name": "CG1725-PK",
                    "type": "synonym"
                },
                {
                    "name": "Disc-Large",
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                {
                    "name": "Discs-large 1",
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                {
                    "name": "Discs-large",
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                {
                    "name": "Dlg",
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                {
                    "name": "disc large",
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                {
                    "name": "disclarge",
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                {
                    "name": "discs large 1, isoform K",
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                {
                    "name": "discs large 1",
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                {
                    "name": "discslarge",
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                {
                    "name": "disk large",
                    "type": "synonym"
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                {
                    "name": "dlg1-PK",
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                },
                {
                    "name": "lethal(1)benign wing imaginal disc neoplasm",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)discs large",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)discs-large",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)discs large",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlg1",
                    "type": "recommended"
                },
                {
                    "name": "11",
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                },
                {
                    "name": "CG1725",
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                {
                    "name": "CG1730",
                    "type": "synonym"
                },
                {
                    "name": "CPD",
                    "type": "synonym"
                },
                {
                    "name": "DLG-A",
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                },
                {
                    "name": "DLG1",
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                },
                {
                    "name": "DLG",
                    "type": "synonym"
                },
                {
                    "name": "Discs Large",
                    "type": "synonym"
                },
                {
                    "name": "Discs-large",
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                },
                {
                    "name": "Dlg-A",
                    "type": "synonym"
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                {
                    "name": "Dlg1",
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                },
                {
                    "name": "DlgA",
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                },
                {
                    "name": "DlgS97",
                    "type": "synonym"
                },
                {
                    "name": "Dlg",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1725",
                    "type": "synonym"
                },
                {
                    "name": "Drodlg",
                    "type": "synonym"
                },
                {
                    "name": "PSD-95",
                    "type": "synonym"
                },
                {
                    "name": "PSD95",
                    "type": "synonym"
                },
                {
                    "name": "SAP97",
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                },
                {
                    "name": "anon-EST:Posey93",
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                {
                    "name": "anon-WO03040301.258",
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                    "name": "anon-WO03040301.260",
                    "type": "synonym"
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                    "name": "anon-WO03040301.268",
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                    "name": "d. lg.-1",
                    "type": "synonym"
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                {
                    "name": "dlg-1",
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                {
                    "name": "dlg-A",
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                {
                    "name": "dlg1",
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                },
                {
                    "name": "dlgA",
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                {
                    "name": "dlgS97",
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                },
                {
                    "name": "dlg",
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                {
                    "name": "l(1)10Bf",
                    "type": "synonym"
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                {
                    "name": "l(1)G0276",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0342",
                    "type": "synonym"
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                {
                    "name": "l(1)G0456",
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                },
                {
                    "name": "l(1)G19",
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                },
                {
                    "name": "l(1)L11",
                    "type": "synonym"
                },
                {
                    "name": "l(1)bwn",
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                {
                    "name": "l(1)d.lg-1",
                    "type": "synonym"
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                {
                    "name": "l(1)d.lg.-1",
                    "type": "synonym"
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                {
                    "name": "l(1)discs large",
                    "type": "synonym"
                },
                {
                    "name": "l(1)dlg-1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)dlg1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)dlg",
                    "type": "synonym"
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                {
                    "name": "l(1)l.pr.-2",
                    "type": "synonym"
                },
                {
                    "name": "l(1)lpr-2",
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                {
                    "name": "misb",
                    "type": "synonym"
                }
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                {
                    "id": "0112041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112041"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112041"
}