{
  "id": 25061,
  "label": "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800477",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 3324,
      "label": "intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1059",
          "ICD10CM:F70-F79",
          "ICD9:319",
          "MEDGEN:811461",
          "MESH:D008607",
          "NCIT:C97250",
          "Orphanet:319658",
          "SCTID:91138005",
          "UMLS:C3714756",
          "icd11.foundation:605267007"
        ],
        "synonyms": [
          "intellectual disabilities",
          "intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001071"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 22894,
      "label": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24323,
        25061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022397",
          "MEDGEN:1843293",
          "Orphanet:597743",
          "UMLS:C5681587"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035706"
    },
    {
      "id": 25465,
      "label": "intellectual developmental disorder, autosomal dominant 70",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        25061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061043",
          "MEDGEN:1824044",
          "OMIM:620157",
          "UMLS:C5774271"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859333"
    }
  ],
  "roots": [
    {
      "id": 3324,
      "label": "intellectual disability"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}