{
  "id": 13459,
  "label": "microphthalmia, isolated, with coloboma 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012408",
  "properties": {
    "xrefs": [
      "GARD:0015471",
      "MEDGEN:400598",
      "MESH:C566447",
      "OMIM:610092",
      "UMLS:C1864721"
    ],
    "synonyms": [
      "VSX2 microphthalmia, isolated, with coloboma",
      "microphthalmia with coloboma 3",
      "microphthalmia, isolated, with coloboma 3",
      "microphthalmia, isolated, with coloboma caused by mutation in VSX2",
      "microphthalmia, isolated, with coloboma type 3",
      "MCOPCB3",
      "microphthalmia, cataracts, and iris abnormalities",
      "microphthalmia, colobomatous, isolated 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2755,
      "label": "microphthalmia, isolated, with coloboma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2713,
        3690,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003644",
          "MEDGEN:444071",
          "MESH:C537463",
          "OMIMPS:300345",
          "Orphanet:98938",
          "UMLS:C2931500",
          "icd11.foundation:1208828500"
        ],
        "synonyms": [
          "MAC",
          "colobomatous microphthalmia",
          "microphthalmia with colobomatous cyst",
          "microphthalmia-anophthalmia-coloboma syndrome",
          "MCOPCB1",
          "microphthalmia associated with colobomatous cyst",
          "microphthalmos bilateral, colobomatous orbital cyst"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma."
      },
      "child_count": 36,
      "reference_id": "MONDO:0000170"
    },
    {
      "id": 13460,
      "label": "isolated microphthalmia 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060839",
          "GARD:0024863",
          "MEDGEN:351204",
          "MESH:C566446",
          "OMIM:610093",
          "UMLS:C1864720"
        ],
        "synonyms": [
          "MCOP2",
          "VSX2 isolated microphthalmia",
          "isolated microphthalmia caused by mutation in VSX2",
          "isolated microphthalmia type 2",
          "microphthalmia, isolated type 2",
          "anophthalmia, clinical, isolated",
          "microphthalmia, isolated 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0012409"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2755,
      "label": "microphthalmia, isolated, with coloboma"
    },
    {
      "id": 13460,
      "label": "isolated microphthalmia 2"
    }
  ]
}