{
  "id": 13651,
  "label": "isolated microphthalmia 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012604",
  "properties": {
    "xrefs": [
      "DOID:0060842",
      "GARD:0024876",
      "MEDGEN:1823955",
      "MESH:C567025",
      "OMIM:611038",
      "UMLS:C5774181"
    ],
    "synonyms": [
      "MCOP3",
      "RAX isolated microphthalmia",
      "isolated microphthalmia 3",
      "isolated microphthalmia caused by mutation in RAX",
      "isolated microphthalmia caused by mutation in rax",
      "isolated microphthalmia type 3",
      "microphthalmia, isolated type 3",
      "rax isolated microphthalmia",
      "microphthalmia, isolated 3"
    ],
    "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 RAX 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"
    }
  ]
}