{
  "id": 19837,
  "label": "early-onset partial cataract",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020377",
  "properties": {
    "xrefs": [
      "GARD:0016888",
      "MEDGEN:1842758",
      "Orphanet:98992",
      "UMLS:C5681643"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": [
    {
      "id": 8688,
      "label": "cataract 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110248",
          "GARD:0024545",
          "MEDGEN:811741",
          "MESH:C566157",
          "OMIM:116300",
          "UMLS:C3805411"
        ],
        "synonyms": [
          "CTRCT30",
          "cataract 30",
          "cataract type 30",
          "cataract 30, multiple types",
          "cataract 30, pulverulent"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007286"
    },
    {
      "id": 18611,
      "label": "early-onset posterior subcapsular cataract",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021846",
          "MEDGEN:1842187",
          "Orphanet:441447",
          "UMLS:C5681190"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018610"
    },
    {
      "id": 19834,
      "label": "early-onset anterior polar cataract",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001140",
          "MEDGEN:340806",
          "Orphanet:98988",
          "UMLS:C1855179"
        ],
        "synonyms": [
          "early-onset anterior subcapsular cataract",
          "cataract anterior polar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0020373"
    },
    {
      "id": 19835,
      "label": "cerulean cataract",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009508",
          "ICD9:743.39",
          "MEDGEN:138007",
          "MESH:C537955",
          "Orphanet:98989",
          "SCTID:204138006",
          "UMLS:C0344523",
          "icd11.foundation:1188848969"
        ],
        "synonyms": [
          "blue-dot cataract",
          "cataract, congenital, blue dot type 1",
          "cataract, congenital, cerulean type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020374"
    },
    {
      "id": 19839,
      "label": "early-onset zonular cataract",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001898",
          "MEDGEN:1842642",
          "Orphanet:98995",
          "UMLS:C5681642"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0020379"
    }
  ],
  "roots": [
    {
      "id": 12186,
      "label": "early-onset non-syndromic cataract"
    }
  ]
}