{
  "id": 17463,
  "label": "leptomyelolipoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017084",
  "properties": {
    "xrefs": [
      "GARD:0020973",
      "MEDGEN:1657711",
      "Orphanet:268838",
      "UMLS:C4749649",
      "icd11.foundation:1479116207"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18236,
      "label": "neural tube defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080074",
          "GARD:0018796",
          "ICD9:742.8",
          "MEDGEN:18009",
          "MESH:D009436",
          "NCIT:C84923",
          "Orphanet:3388",
          "SCTID:253098009",
          "UMLS:C0027794"
        ],
        "synonyms": [
          "NTD",
          "spinal dysraphism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018075"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18236,
      "label": "neural tube defect"
    }
  ]
}