{
    "disease_id": "DOID:0051060",
    "recommended_name": {
        "id": "DOID:0051060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051060",
        "name": "frontotemporal dementia 1",
        "description": "A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0010857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "name": "semantic dementia",
            "description": "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes."
        },
        {
            "id": "MONDO:0010857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "name": "dementia, frontotemporal",
            "description": ""
        },
        {
            "id": "MONDO:0010857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "name": "dementia, frontotemporal, with or without parkinsonism",
            "description": ""
        },
        {
            "id": "MONDO:0010857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "name": "semantic primary progressive aphasia",
            "description": ""
        },
        {
            "id": "MONDO:0010857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "name": "semantic variant PPA",
            "description": ""
        },
        {
            "id": "MONDO:0010857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "name": "FTD",
            "description": ""
        },
        {
            "id": "MONDO:0010857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "name": "frontotemporal dementia",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/600274",
            "name": "Frontotemporal dementia 1",
            "description": "Frontotemporal dementia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051060"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051060",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051060",
            "categories": []
        },
        {
            "id": "MONDO:0010857",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010857",
            "categories": []
        },
        {
            "id": "MIM:600274",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600274",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0AB32TN86",
            "uniprot_id": "A0AB32TN86_DANRE",
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                }
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                    "type": "recommended"
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                }
            ],
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                    "name": "Microtubule-associated protein tau",
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                },
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                    "name": "familial Alzheimer Disease",
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                    "name": "presenilin-1 isoform I-467",
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                    "name": "CMD1U",
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                    "id": "0051060",
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                    "id": "0051060",
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                }
            ],
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                    "name": "Presenilin homolog",
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                    "name": "CG18803-PC",
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                    "name": "dPS",
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                    "name": "lethal (3) S048015a",
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                    "name": "lethal (3) S049314a",
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                {
                    "name": "presenilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psn",
                    "type": "recommended"
                },
                {
                    "name": "0480/15",
                    "type": "synonym"
                },
                {
                    "name": "0493/14",
                    "type": "synonym"
                },
                {
                    "name": "14",
                    "type": "synonym"
                },
                {
                    "name": "15",
                    "type": "synonym"
                },
                {
                    "name": "493/14",
                    "type": "synonym"
                },
                {
                    "name": "CG18803",
                    "type": "synonym"
                },
                {
                    "name": "CG5868",
                    "type": "synonym"
                },
                {
                    "name": "DPS",
                    "type": "synonym"
                },
                {
                    "name": "DPsn",
                    "type": "synonym"
                },
                {
                    "name": "DmPS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18803",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18803",
                    "type": "synonym"
                },
                {
                    "name": "Dps",
                    "type": "synonym"
                },
                {
                    "name": "DrosPS",
                    "type": "synonym"
                },
                {
                    "name": "PS1",
                    "type": "synonym"
                },
                {
                    "name": "PSN",
                    "type": "synonym"
                },
                {
                    "name": "PS",
                    "type": "synonym"
                },
                {
                    "name": "Psn",
                    "type": "synonym"
                },
                {
                    "name": "dPsn",
                    "type": "synonym"
                },
                {
                    "name": "gamma-secretase",
                    "type": "synonym"
                },
                {
                    "name": "l(3)77CDb",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S048015a",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S049314a",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S049314",
                    "type": "synonym"
                },
                {
                    "name": "pres",
                    "type": "synonym"
                },
                {
                    "name": "psn",
                    "type": "synonym"
                }
            ],
            "record_id": "O02194-1",
            "evidence": [
                {
                    "id": "0051060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051060"
}