{
    "disease_id": "DOID:0061035",
    "recommended_name": {
        "id": "DOID:0061035",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061035",
        "name": "autosomal dominant intellectual developmental disorder 62",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "intellectual developmental disorder 62",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "DLG4 synaptopathy",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "DLG4-related synaptopathy",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "SHINE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "autosomal dominant intellectual developmental disorder-62",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "intellectual developmental disorder, autosomal dominant 62",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "MRD62",
            "description": ""
        },
        {
            "id": "MONDO:0032919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "name": "Mental Retardation, Autosomal Dominant 62",
            "description": ""
        },
        {
            "id": "MIM:618793",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618793",
            "name": "Intellectual developmental disorder, autosomal dominant 62",
            "description": "Intellectual developmental disorder, autosomal dominant 62"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061035"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061035",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061035",
            "categories": []
        },
        {
            "id": "MONDO:0032919",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032919",
            "categories": []
        },
        {
            "id": "MIM:618793",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618793",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6R005-1",
            "uniprot_ac": "Q6R005",
            "uniprot_id": "DLG4_DANRE",
            "refseq_ac": "NP_999893",
            "glycoprotein": "no",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Disks large homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "PSD-95",
                    "type": "synonym"
                },
                {
                    "name": "PSD95/SAP90",
                    "type": "synonym"
                },
                {
                    "name": "Postsynaptic density protein 95",
                    "type": "synonym"
                },
                {
                    "name": "discs, large homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "postsynaptic density protein 95",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "dlg4",
                    "type": "recommended"
                },
                {
                    "name": "dlg4b",
                    "type": "synonym"
                },
                {
                    "name": "dlg4",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
        {
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            "uniprot_ac": "Q62108",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Disks large homolog 4",
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                    "name": "PSD-95 alpha 2b",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "PSD-95",
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                },
                {
                    "name": "Postsynaptic density protein 95",
                    "type": "synonym"
                },
                {
                    "name": "SAP-90",
                    "type": "synonym"
                },
                {
                    "name": "SAP90",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 90",
                    "type": "synonym"
                },
                {
                    "name": "discs large homolog 4",
                    "type": "synonym"
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                {
                    "name": "discs, large homolog 4",
                    "type": "synonym"
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                {
                    "name": "disks large homolog 4 isoform 2",
                    "type": "synonym"
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                {
                    "name": "disks large homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "postsynaptic density protein 95",
                    "type": "synonym"
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                {
                    "name": "synapse-associated protein 90",
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                }
            ],
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                    "name": "Dlg4",
                    "type": "recommended"
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                    "name": "Dlg4",
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                {
                    "name": "Dlgh4",
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                    "name": "PSD-95",
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                },
                {
                    "name": "PSD95",
                    "type": "synonym"
                },
                {
                    "name": "Psd95",
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                },
                {
                    "name": "SAP90A",
                    "type": "synonym"
                },
                {
                    "name": "SAP90",
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                }
            ],
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                    "id": "0061035",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P78352-1",
            "uniprot_ac": "P78352",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                    "name": "Disks large homolog 4",
                    "type": "recommended"
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                {
                    "name": "Postsynaptic density protein 95",
                    "type": "synonym"
                },
                {
                    "name": "SAP-90",
                    "type": "synonym"
                },
                {
                    "name": "SAP90",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 90",
                    "type": "synonym"
                },
                {
                    "name": "Tax interaction protein 15",
                    "type": "synonym"
                },
                {
                    "name": "discs large homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "post-synaptic density protein 95",
                    "type": "synonym"
                },
                {
                    "name": "synapse-associated protein 90",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLG4",
                    "type": "recommended"
                },
                {
                    "name": "DLG4",
                    "type": "synonym"
                },
                {
                    "name": "MRD62",
                    "type": "synonym"
                },
                {
                    "name": "PSD95",
                    "type": "synonym"
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                {
                    "name": "SAP-90",
                    "type": "synonym"
                },
                {
                    "name": "SAP90",
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                }
            ],
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                },
                {
                    "id": "0061035",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31016-1",
            "uniprot_ac": "P31016",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Disks large homolog 4",
                    "type": "recommended"
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                },
                {
                    "name": "Postsynaptic density protein 95",
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                },
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                    "name": "SAP-90",
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                },
                {
                    "name": "SAP90",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 90",
                    "type": "synonym"
                },
                {
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                    "name": "disks large homolog 4",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "synapse-associated protein 90",
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                {
                    "name": "synapse-associated protein SAP90",
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                }
            ],
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                    "name": "Dlg4",
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                    "name": "PSD95",
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                {
                    "name": "Psd95",
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        {
            "uniprot_canonical_ac": "P40190-1",
            "uniprot_ac": "P40190",
            "uniprot_id": "IL6RB_RAT",
            "refseq_ac": "",
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "Interleukin-6 receptor subunit beta",
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                    "name": "IL-6 receptor subunit beta",
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                    "name": "IL-6R subunit beta",
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                },
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                    "name": "IL-6R-beta",
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                {
                    "name": "IL-6RB",
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                {
                    "name": "Interleukin-6 signal transducer",
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                },
                {
                    "name": "Membrane glycoprotein 130",
                    "type": "synonym"
                },
                {
                    "name": "Oncostatin-M receptor subunit alpha",
                    "type": "synonym"
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                    "name": "gp130",
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                    "id": "0061035",
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            "species": [
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                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Disks large 1 tumor suppressor protein",
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                    "name": "CG1725-PK",
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                    "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",
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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"
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                {
                    "name": "lethal(2)discs large",
                    "type": "synonym"
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            ],
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                    "name": "dlg1",
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                    "name": "11",
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                {
                    "name": "CG1730",
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                {
                    "name": "CPD",
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                    "name": "DLG-A",
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                {
                    "name": "DLG1",
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                {
                    "name": "DLG",
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                {
                    "name": "Discs Large",
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                {
                    "name": "Discs-large",
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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": "Dmel\\CG1725",
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                },
                {
                    "name": "Drodlg",
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                },
                {
                    "name": "PSD-95",
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                    "name": "PSD95",
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                {
                    "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",
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                {
                    "name": "anon-WO03040301.268",
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                    "name": "d. lg.-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",
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                {
                    "name": "l(1)G0276",
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                {
                    "name": "l(1)G0342",
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                {
                    "name": "l(1)G0456",
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                {
                    "name": "l(1)G19",
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                {
                    "name": "l(1)L11",
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                {
                    "name": "l(1)bwn",
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                {
                    "name": "l(1)d.lg-1",
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                {
                    "name": "l(1)d.lg.-1",
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                {
                    "name": "l(1)discs large",
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                {
                    "name": "l(1)dlg-1",
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                {
                    "name": "l(1)dlg1",
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                {
                    "name": "l(1)dlg",
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                {
                    "name": "l(1)l.pr.-2",
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                {
                    "name": "l(1)lpr-2",
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                {
                    "name": "misb",
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            ],
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                    "id": "0061035",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061035"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061035"
}