{
  "id": 13705,
  "label": "cataract 33",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012665",
  "properties": {
    "xrefs": [
      "DOID:0110264",
      "GARD:0018236",
      "MEDGEN:814437",
      "MESH:C566955",
      "OMIM:611391",
      "Orphanet:217046",
      "Orphanet:217052",
      "UMLS:C3808107"
    ],
    "synonyms": [
      "BFSP1 early-onset non-syndromic cataract",
      "CTRCT33",
      "cataract 33",
      "cataract type 33",
      "early-onset non-syndromic cataract caused by mutation in BFSP1",
      "cataract 33, cortical",
      "cataract 33, multiple types"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12186,
      "label": "early-onset non-syndromic cataract",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6853
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016801",
          "MEDGEN:371326",
          "OMIM:601371",
          "Orphanet:91492",
          "UMLS:C1832423",
          "icd11.foundation:1080602978"
        ],
        "synonyms": [
          "cataract, age-related nuclear",
          "nuclear sclerosis of the lens"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected."
      },
      "child_count": 29,
      "reference_id": "MONDO:0011060"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12186,
      "label": "early-onset non-syndromic cataract"
    }
  ]
}