{
  "id": 22775,
  "label": "early-onset calcifying leukoencephalopathy-skeletal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0034143",
  "properties": {
    "xrefs": [
      "GARD:0022246",
      "Orphanet:556985"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17540,
      "label": "osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        23099
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13533",
          "GARD:0004155",
          "HP:0011002",
          "ICD10CM:Q78.2",
          "ICD9:756.52",
          "MEDGEN:18223",
          "MESH:D010022",
          "MedDRA:10031280",
          "NANDO:1200998",
          "NANDO:2201013",
          "NCIT:C26840",
          "NORD:1538",
          "Orphanet:2781",
          "SCTID:1926006",
          "UMLS:C0029454",
          "icd11.foundation:1498426606"
        ],
        "synonyms": [
          "Albers-Schonberg disease",
          "marble bone disease",
          "marble bones",
          "osteopetrosis",
          "osteopetrosis (disease)",
          "Albers-Schoenberg disease",
          "osteopetroses",
          "osteopetrosis and related disorders",
          "osteosclerosis fragilis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."
      },
      "child_count": 22,
      "reference_id": "MONDO:0017198"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17540,
      "label": "osteopetrosis"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}