{
  "id": 17464,
  "label": "primary tethered cord syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017086",
  "properties": {
    "xrefs": [
      "GARD:0004018",
      "MEDGEN:1636724",
      "NORD:1762",
      "Orphanet:268861",
      "SCTID:70534000",
      "UMLS:C4708602",
      "icd11.foundation:66705662"
    ],
    "synonyms": [
      "Tethered Cord Syndrome",
      "primary tethered spinal cord syndrome",
      "occult spinal dysraphism",
      "occult spinal dysraphism sequence",
      "segmental vertebral anomalies",
      "tethered cord syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated."
  },
  "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"
    }
  ]
}