{
  "id": 20797,
  "label": "baker Vinters syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021966",
  "properties": {
    "xrefs": [
      "MEDGEN:419861",
      "MESH:C537899",
      "UMLS:C2931659"
    ],
    "synonyms": [
      "hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3395,
      "label": "hydrocephalus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10908",
          "ICD10CM:G91",
          "ICD10WHO:G91",
          "MEDGEN:9335",
          "MESH:D006849",
          "NCIT:C3111",
          "SCTID:230745008",
          "UMLS:C0020255",
          "icd11.foundation:574533444"
        ],
        "synonyms": [
          "hydrocephalus, X-linked",
          "hydrocephalus, nonsyndromic, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain."
      },
      "child_count": 7,
      "reference_id": "MONDO:0001150"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3395,
      "label": "hydrocephalus"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}