{
  "id": 23941,
  "label": "microcephaly with intellectual disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100200",
  "properties": {
    "xrefs": [
      "GARD:0026081"
    ],
    "synonyms": [
      "microcephaly with neurodevelopmental phenotypes"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 3394,
      "label": "microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10907",
          "HP:0000252",
          "ICD10CM:Q02",
          "ICD10WHO:Q02",
          "ICD9:742.1",
          "MEDGEN:1644158",
          "MESH:D008831",
          "NCIT:C85874",
          "SCTID:1829003",
          "UMLS:C4551563",
          "icd11.foundation:179350437"
        ],
        "synonyms": [
          "microcephalus",
          "microcephaly",
          "microcephaly (disease)",
          "microencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001149"
    }
  ],
  "children": [
    {
      "id": 10837,
      "label": "microcephaly 1, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129,
        23941
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070285",
          "GARD:0015198",
          "MEDGEN:344415",
          "MESH:C565384",
          "OMIM:251200",
          "Orphanet:52183",
          "UMLS:C1855081"
        ],
        "synonyms": [
          "MCPH1 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in MCPH1",
          "microcephaly 1, primary, autosomal recessive",
          "MCPH1",
          "PCC syndrome",
          "premature chromosome condensation syndrome",
          "premature chromosome condensation with microcephaly and intellectual disability",
          "premature chromosome condensation with microcephaly and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009617"
    }
  ],
  "roots": [
    {
      "id": 3394,
      "label": "microcephaly"
    }
  ]
}