{
  "id": 10275,
  "label": "corpus callosum, agenesis of",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009022",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": [
    {
      "id": 20811,
      "label": "calloso-genital dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3690,
        4016,
        10275
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027362",
          "MEDGEN:419867",
          "MESH:C537962",
          "UMLS:C2931677"
        ],
        "synonyms": [
          "primary amenorrhoea with coloboma and total agenesis of the corpus callosum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022060"
    },
    {
      "id": 21236,
      "label": "Kozlowski Ouvrier syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        10275
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023569"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}