{
  "id": 13749,
  "label": "microphthalmia, isolated, with coloboma 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012709",
  "properties": {
    "xrefs": [
      "GARD:0015524",
      "MEDGEN:369356",
      "MESH:C566899",
      "OMIM:611638",
      "UMLS:C1968843"
    ],
    "synonyms": [
      "SHH microphthalmia, isolated, with coloboma",
      "Shh microphthalmia, isolated, with coloboma",
      "microphthalmia with coloboma 5",
      "microphthalmia, isolated, with coloboma 5",
      "microphthalmia, isolated, with coloboma caused by mutation in SHH",
      "microphthalmia, isolated, with coloboma caused by mutation in Shh",
      "microphthalmia, isolated, with coloboma type 5",
      "MCOPCB5"
    ],
    "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 SHH 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2755,
      "label": "microphthalmia, isolated, with coloboma"
    }
  ]
}