{
  "id": 10084,
  "label": "Chiari malformation type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008816",
  "properties": {
    "xrefs": [
      "GARD:0009232",
      "MEDGEN:108222",
      "MedDRA:10056945",
      "OMIM:207950",
      "Orphanet:1136",
      "SCTID:373587001",
      "UMLS:C0555206"
    ],
    "synonyms": [
      "Arnold-Chiari malformation type 2",
      "Arnold-Chiari malformation type II",
      "Chiari malformation type 2",
      "Chiari malformation type II",
      "Arnold Chiari malformation type II",
      "Arnold-Chiari malformation",
      "Chiari type II malformation",
      "Cm2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache."
  },
  "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": 17449,
      "label": "spina bifida cystica",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19188
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020958",
          "MEDGEN:21277",
          "MESH:D016137",
          "MedDRA:10071011",
          "NANDO:1200509",
          "NANDO:2100215",
          "NANDO:2200814",
          "NCIT:C101201",
          "Orphanet:268744",
          "UMLS:C0037917",
          "icd11.foundation:979482551"
        ],
        "synonyms": [
          "meningomyelocele",
          "myelomeningocele",
          "open spina bifida",
          "spina bifida aperta",
          "spina bifida manifesta",
          "spina bifida, open"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017069"
    },
    {
      "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": 17449,
      "label": "spina bifida cystica"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}