{
  "id": 9314,
  "label": "autosomal dominant primary microcephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007988",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 16689,
      "label": "isolated congenital microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016056"
    },
    {
      "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": 22133,
      "label": "microcephaly 26, primary, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051037",
          "GARD:0016432",
          "MEDGEN:1779629",
          "OMIM:619179",
          "UMLS:C5543048"
        ],
        "synonyms": [
          "MCPH26",
          "microcephaly 26, primary, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030928"
    },
    {
      "id": 22134,
      "label": "microcephaly 27, primary, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051038",
          "GARD:0016433",
          "MEDGEN:1783457",
          "OMIM:619180",
          "UMLS:C5543051"
        ],
        "synonyms": [
          "MCPH27",
          "microcephaly 27, primary, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030929"
    },
    {
      "id": 23569,
      "label": "microcephaly 18, primary, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070295",
          "GARD:0016233",
          "MEDGEN:1391110",
          "OMIM:617520",
          "UMLS:C4479608"
        ],
        "synonyms": [
          "microcephaly 18, primary, autosomal dominant",
          "MCPH18",
          "primary autosomal dominant microcephaly 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054593"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 16689,
      "label": "isolated congenital microcephaly"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}