{
    "disease_id": "DOID:0080523",
    "recommended_name": {
        "id": "DOID:0080523",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080523",
        "name": "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia",
        "description": "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080523",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080523",
            "name": "hereditary diffuse leukoencephalopathy with spheroids",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "leukoencephalopathy, diffuse hereditary, with spheroids 1",
            "description": "A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "HDLS",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "hereditary diffuse leukoencephalopathy with spheroids",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "leukoencephalopathy, diffuse hereditary, with spheroids",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "leukoencephalopathy, hereditary diffuse, with spheroids",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "ALSP",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "CSF1R-related ALSP",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "FPSG",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "GPSC",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "POLD",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "autosomal dominant leukoencephalopathy with neuroaxonal spheroids",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "dementia, familial, Neumann type",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "familial dementia, Neumann type",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "familial progressive subcortical gliosis",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "gliosis, familial progressive subcortical",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "pigmentary orthochromatic leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "subcortical gliosis of Neumann",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "adult-onset leukodystrophy with neuroaxonal spheroids",
            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
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            "description": ""
        },
        {
            "id": "MONDO:0800027",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "name": "neuroaxonal leukodystrophy",
            "description": ""
        },
        {
            "id": "MIM:221820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221820",
            "name": "Leukoencephalopathy, hereditary diffuse, with spheroids 1",
            "description": "Leukoencephalopathy, hereditary diffuse, with spheroids 1"
        }
    ],
    "children": [],
    "id_list": [
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    ],
    "unlinked_id_list": [],
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            "id": "DOID:0080523",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080523",
            "categories": []
        },
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            "id": "MONDO:0800027",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800027",
            "categories": []
        },
        {
            "id": "MIM:221820",
            "database": "MIM",
            "url": "https://www.omim.org/entry/221820",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M3AX73",
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            ],
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                {
                    "name": "receptor protein-tyrosine kinase",
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                    "name": "2.7.10.1",
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                    "name": "macrophage colony-stimulating factor 1 receptor 1 isoform X1",
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                    "name": "csf1rb",
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                    "name": "pfe",
                    "type": "synonym"
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                    "name": "fms",
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                    "name": "panther",
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                    "name": "si:zfos-1069f5.1",
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                    "name": "CD115",
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            "uniprot_ac": "P07333",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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            ],
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                    "name": "Macrophage colony-stimulating factor 1 receptor",
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                    "name": "CSF-1-R",
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                {
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                    "name": "M-CSF-R",
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                    "id": "0080523",
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                },
                {
                    "name": "Vegfr",
                    "type": "synonym"
                },
                {
                    "name": "Vegf",
                    "type": "synonym"
                },
                {
                    "name": "Vgr1",
                    "type": "synonym"
                },
                {
                    "name": "pvr",
                    "type": "synonym"
                },
                {
                    "name": "stai",
                    "type": "synonym"
                },
                {
                    "name": "vgr1",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JHB7-1",
            "evidence": [
                {
                    "id": "0080523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080523"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080523"
}