{
  "id": 13652,
  "label": "isolated microphthalmia 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012605",
  "properties": {
    "xrefs": [
      "DOID:0060837",
      "GARD:0017205",
      "MEDGEN:410021",
      "MESH:C567024",
      "OMIM:611040",
      "Orphanet:251279",
      "UMLS:C1970236"
    ],
    "synonyms": [
      "MCOP5",
      "MFRP isolated microphthalmia",
      "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
      "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome",
      "isolated microphthalmia 5",
      "isolated microphthalmia caused by mutation in MFRP",
      "isolated microphthalmia type 5",
      "microphthalmia, isolated type 5",
      "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
      "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome",
      "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen",
      "microphthalmia, isolated 5",
      "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen"
    ],
    "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 MFRP 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2713,
      "label": "isolated microphthalmia"
    }
  ]
}