{
  "id": 16689,
  "label": "isolated congenital microcephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016056",
  "properties": {
    "xrefs": [
      "DOID:0070297",
      "GARD:0003603",
      "MEDGEN:44422",
      "MedDRA:10027534",
      "Orphanet:199642",
      "UMLS:C0025958"
    ],
    "synonyms": [
      "microcephaly, primary"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 9314,
      "label": "autosomal dominant primary microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4427,
        16088,
        16689,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061100",
          "DOID:14725",
          "GARD:0003605",
          "MEDGEN:66319",
          "MESH:C537323",
          "OMIM:156580",
          "Orphanet:2514",
          "UMLS:C0220693",
          "icd11.foundation:774437947"
        ],
        "synonyms": [
          "autosomal dominant primary microcephaly",
          "microcephaly (disease), autosomal dominant",
          "autosomal dominant microcephaly",
          "microcephaly autosomal dominant",
          "microcephaly with autosomal dominant inheritance",
          "microcephaly, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of microcephaly (disease)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0007988"
    },
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16689,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070296",
          "GARD:0012117",
          "MEDGEN:777995",
          "MESH:C579935",
          "OMIMPS:251200",
          "Orphanet:2512",
          "SCTID:715981004",
          "UMLS:C3711387"
        ],
        "synonyms": [
          "true microcephaly",
          "MCPH",
          "microcephalia vera",
          "microcephaly vera",
          "microcephaly, primary autosomal recessive",
          "microcephaly, primary, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."
      },
      "child_count": 87,
      "reference_id": "MONDO:0016660"
    }
  ],
  "roots": [
    {
      "id": 3394,
      "label": "microcephaly"
    }
  ]
}