{
  "id": 14167,
  "label": "isolated microphthalmia 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013130",
  "properties": {
    "xrefs": [
      "DOID:0060836",
      "GARD:0024901",
      "MEDGEN:414346",
      "MESH:C567757",
      "OMIM:613094",
      "UMLS:C2751307"
    ],
    "synonyms": [
      "GDF6 isolated microphthalmia",
      "MCOP4",
      "isolated microphthalmia caused by mutation in GDF6",
      "isolated microphthalmia type 4",
      "microphthalmia, isolated type 4",
      "microphthalmia, isolated 4"
    ],
    "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 GDF6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 2713,
      "label": "isolated microphthalmia"
    },
    {
      "id": 17209,
      "label": "isolated anophthalmia-microphthalmia syndrome"
    }
  ]
}