{
  "id": 13460,
  "label": "isolated microphthalmia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012409",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 2713,
      "label": "isolated microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080637",
          "OMIMPS:251600"
        ],
        "synonyms": [
          "microphthalmia, isolated",
          "nonsyndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is not part of a larger syndrome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0000062"
    },
    {
      "id": 17209,
      "label": "isolated anophthalmia-microphthalmia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012085",
          "MEDGEN:1826144",
          "Orphanet:2542",
          "UMLS:C5679828"
        ],
        "synonyms": [
          "MAC spectrum",
          "microphthalmia-anophthalmia-coloboma spectrum",
          "nonsyndromic anophthalmia-microphthalmia syndrome",
          "clinical anophthalmia",
          "isolated anophthalmia - microphthalmia",
          "isolated pure microphthalmia",
          "primitive anophthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016764"
    }
  ],
  "children": [
    {
      "id": 13459,
      "label": "microphthalmia, isolated, with coloboma 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755,
        13460
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012408"
    }
  ],
  "roots": [
    {
      "id": 2713,
      "label": "isolated microphthalmia"
    },
    {
      "id": 17209,
      "label": "isolated anophthalmia-microphthalmia syndrome"
    }
  ]
}