{
  "id": 20796,
  "label": "bagatelle Cassidy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021964",
  "properties": {
    "xrefs": [
      "GARD:0000398",
      "MEDGEN:444100",
      "MESH:C537796",
      "UMLS:C2931616"
    ],
    "synonyms": [
      "macrocephaly short limbs deafness",
      "macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay"
    ],
    "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": 6982,
      "label": "developmental disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003852",
          "MESH:D002658"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)"
      },
      "child_count": 5,
      "reference_id": "MONDO:0005287"
    },
    {
      "id": 17092,
      "label": "megalencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016601",
          "HP:0001355",
          "ICD10CM:Q04.5",
          "ICD9:742.4",
          "MEDGEN:65141",
          "MESH:D058627",
          "MedDRA:10050183",
          "Orphanet:2477",
          "SCTID:9740002",
          "UMLS:C0221355",
          "icd11.foundation:368780653"
        ],
        "synonyms": [
          "macroencephaly",
          "megalencephaly",
          "megalencephaly (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016608"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6982,
      "label": "developmental disability"
    },
    {
      "id": 17092,
      "label": "megalencephaly"
    }
  ]
}