{
  "id": 24782,
  "label": "leukoencephalopathy, diffuse hereditary, with spheroids 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800027",
  "properties": {
    "xrefs": [
      "DOID:0080523",
      "GARD:0010981",
      "ICD9:323.81",
      "MEDGEN:1794139",
      "MESH:C580150",
      "NCIT:C153289",
      "NORD:2033",
      "OMIM:221820",
      "Orphanet:313808",
      "SCTID:702427005",
      "UMLS:C5561929"
    ],
    "synonyms": [
      "HDLS",
      "hereditary diffuse leukoencephalopathy with spheroids",
      "leukoencephalopathy, diffuse hereditary, with spheroids",
      "leukoencephalopathy, hereditary diffuse, with spheroids",
      "ALSP",
      "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia",
      "CSF1R-related ALSP",
      "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia",
      "FPSG",
      "GPSC",
      "POLD",
      "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia",
      "autosomal dominant leukoencephalopathy with neuroaxonal spheroids",
      "dementia, familial, Neumann type",
      "familial dementia, Neumann type",
      "familial progressive subcortical gliosis",
      "gliosis, familial progressive subcortical",
      "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant",
      "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia",
      "pigmentary orthochromatic leukodystrophy",
      "subcortical gliosis of Neumann",
      "adult-onset leukodystrophy with neuroaxonal spheroids",
      "hereditary diffuse leukoencephalopathy with axonal spheroids",
      "neuroaxonal leukodystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    },
    {
      "id": 22045,
      "label": "leukoencephalopathy, hereditary diffuse, with spheroids",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:777989",
          "OMIMPS:221820",
          "UMLS:C3711381"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0030796"
    },
    {
      "id": 24351,
      "label": "CSF1R-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "CSF1R-RD",
          "colony stimulating factor-1 receptor-related disorder"
        ],
        "definition": "Any disease in which the cause of the disease is a variation in the CSF1R gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100632"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 22045,
      "label": "leukoencephalopathy, hereditary diffuse, with spheroids"
    },
    {
      "id": 24351,
      "label": "CSF1R-related disorder"
    }
  ]
}