{
  "id": 21236,
  "label": "Kozlowski Ouvrier syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0023569",
  "properties": {
    "xrefs": [
      "GARD:0027363",
      "MEDGEN:444073",
      "MESH:C537508",
      "UMLS:C2931512"
    ],
    "synonyms": [
      "agenesis of the corpus callosum with intellectual disability and osseous lesions",
      "agenesis of the corpus callosum with mental retardation and osseous lesions"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 10275,
      "label": "corpus callosum, agenesis of",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027261",
          "MEDGEN:104498",
          "MESH:D061085",
          "NCIT:C98905",
          "OMIM:217990",
          "Orphanet:200",
          "SCTID:5102002",
          "UMLS:C0175754"
        ],
        "synonyms": [
          "agenesis of corpus callosum",
          "corpus callosum agenesis",
          "corpus callosum, agenesis of",
          "ACC",
          "agenesis of the corpus callosum",
          "isolated corpus callosum agenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009022"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 10275,
      "label": "corpus callosum, agenesis of"
    }
  ]
}