{
  "id": 22894,
  "label": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035706",
  "properties": {
    "xrefs": [
      "GARD:0022397",
      "MEDGEN:1843293",
      "Orphanet:597743",
      "UMLS:C5681587"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        23914
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of syndromic intellectual disability."
      },
      "child_count": 68,
      "reference_id": "MONDO:0100601"
    },
    {
      "id": 25061,
      "label": "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800477"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability"
    },
    {
      "id": 25061,
      "label": "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth"
    }
  ]
}