{
  "id": 10340,
  "label": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009092",
  "properties": {
    "xrefs": [
      "DOID:0090112",
      "GARD:0009921",
      "ICD9:758.89",
      "MEDGEN:387795",
      "NANDO:1200658",
      "OMIMPS:221770",
      "Orphanet:2770",
      "SCTID:702347001",
      "UMLS:C1857316"
    ],
    "synonyms": [
      "NHD",
      "Nasu-Hakola disease",
      "PLO-SL",
      "PLOSL",
      "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy",
      "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly",
      "brain-bone-fat disease",
      "dementia, prefrontal, with bone cysts",
      "dementia, progressive, with lipomembranous polycystic osteodysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 19478,
      "label": "primary osteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019204",
          "MEDGEN:1843089",
          "Orphanet:93449",
          "UMLS:C5559806",
          "icd11.foundation:285636466"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0019707"
    }
  ],
  "children": [
    {
      "id": 20152,
      "label": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025236",
          "MEDGEN:1648386",
          "OMIM:221770",
          "UMLS:C4721893"
        ],
        "synonyms": [
          "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020749"
    },
    {
      "id": 20153,
      "label": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025237",
          "MEDGEN:1648374",
          "OMIM:618193",
          "UMLS:C4748657"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020750"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 19478,
      "label": "primary osteolysis"
    }
  ]
}