{
  "id": 8715,
  "label": "Chiari malformation type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007316",
  "properties": {
    "xrefs": [
      "GARD:0009233",
      "MEDGEN:196689",
      "MedDRA:10056944",
      "OMIM:118420",
      "Orphanet:268882",
      "SCTID:253185002",
      "UMLS:C0750929",
      "icd11.foundation:1383121646"
    ],
    "synonyms": [
      "Arnold-Chiari malformation type 1",
      "Arnold-Chiari malformation type I",
      "Chiari malformation type 1",
      "Chiari malformation type I",
      "Chiari malformation type 1 with syringomyelia",
      "Cm1",
      "Cm1 with syringomyelia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2730,
      "label": "Chiari malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027515",
          "MEDGEN:2065",
          "MESH:D001139",
          "NCIT:C84570",
          "SCTID:253184003",
          "UMLS:C0003803"
        ],
        "synonyms": [
          "(Arnold) Chiari malformation",
          "Arnold-Chiari malformation",
          "Chiari malformation"
        ],
        "definition": "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000115"
    },
    {
      "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"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2730,
      "label": "Chiari malformation"
    },
    {
      "id": 18236,
      "label": "neural tube defect"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}