{
  "id": 16321,
  "label": "keratoconus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015486",
  "properties": {
    "xrefs": [
      "DOID:10126",
      "HP:0000563",
      "ICD10CM:H18.6",
      "ICD9:371.6",
      "ICD9:371.60",
      "MEDGEN:44015",
      "MESH:D007640",
      "MedDRA:10023353",
      "NCIT:C26806",
      "OMIMPS:148300",
      "Orphanet:156071",
      "Orphanet:2335",
      "SCTID:65636009",
      "UMLS:C0022578",
      "icd11.foundation:945228622"
    ],
    "synonyms": [
      "keratoconus",
      "keratoconus (disease)",
      "isolated keratoconus",
      "KC",
      "noninflammatory corneal thining"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 3211,
      "label": "corneal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10124",
          "EFO:0009464",
          "ICD9:371.30",
          "ICD9:371.89",
          "ICD9:371.9",
          "MEDGEN:3617",
          "MESH:D003316",
          "NCIT:C26731",
          "SCTID:15250008",
          "UMLS:C0010034",
          "icd11.foundation:980864631"
        ],
        "synonyms": [
          "cornea disease",
          "cornea disease or disorder",
          "corneal disease",
          "corneal disorder",
          "disease of cornea",
          "disease or disorder of cornea",
          "disorder of cornea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma."
      },
      "child_count": 24,
      "reference_id": "MONDO:0000942"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 24305,
      "label": "ocular growth disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions."
      },
      "child_count": 7,
      "reference_id": "MONDO:0100581"
    }
  ],
  "children": [
    {
      "id": 3212,
      "label": "acute hydrops keratoconus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10125",
          "GARD:0022851",
          "ICD9:371.62",
          "MEDGEN:573067",
          "SCTID:111523009",
          "UMLS:C0339286"
        ],
        "synonyms": [
          "keratoconus, acute hydrops",
          "acute corneal hydrops",
          "acute hydrops of cornea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0000943"
    },
    {
      "id": 3288,
      "label": "keratoconus, stable condition",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10428",
          "GARD:0022866",
          "ICD9:371.61",
          "MEDGEN:509801",
          "SCTID:193844000",
          "UMLS:C0155131"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0001030"
    },
    {
      "id": 9187,
      "label": "keratoconus 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024582",
          "MEDGEN:372103",
          "MESH:C563649",
          "OMIM:148300",
          "UMLS:C1835677"
        ],
        "synonyms": [
          "VSX1 keratoconus (disease)",
          "keratoconus (disease) caused by mutation in VSX1",
          "keratoconus 1",
          "keratoconus type 1",
          "KTCN1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007851"
    },
    {
      "id": 13136,
      "label": "keratoconus 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024841",
          "MEDGEN:324883",
          "MESH:C563900",
          "OMIM:608586",
          "UMLS:C1837809"
        ],
        "synonyms": [
          "KTCN3",
          "keratoconus 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012069"
    },
    {
      "id": 13221,
      "label": "keratoconus 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024849",
          "MEDGEN:332363",
          "MESH:C563827",
          "OMIM:608932",
          "UMLS:C1837090"
        ],
        "synonyms": [
          "KTCN2",
          "keratoconus 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012158"
    },
    {
      "id": 13295,
      "label": "keratoconus 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024855",
          "MEDGEN:332217",
          "MESH:C563752",
          "OMIM:609271",
          "UMLS:C1836473"
        ],
        "synonyms": [
          "KTCN4",
          "keratoconus 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012236"
    },
    {
      "id": 14844,
      "label": "keratoconus 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024952",
          "MEDGEN:766216",
          "OMIM:614622",
          "UMLS:C3553302"
        ],
        "synonyms": [
          "KTCN5",
          "keratoconus 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013830"
    },
    {
      "id": 14845,
      "label": "keratoconus 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024953",
          "MEDGEN:766220",
          "OMIM:614623",
          "UMLS:C3553306"
        ],
        "synonyms": [
          "KTCN6",
          "keratoconus 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013831"
    },
    {
      "id": 14846,
      "label": "keratoconus 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024954",
          "MEDGEN:766221",
          "OMIM:614628",
          "UMLS:C3553307"
        ],
        "synonyms": [
          "KTCN8",
          "keratoconus 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013832"
    },
    {
      "id": 14847,
      "label": "keratoconus 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024955",
          "MEDGEN:766222",
          "OMIM:614629",
          "UMLS:C3553308"
        ],
        "synonyms": [
          "KTCN7",
          "keratoconus 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013833"
    },
    {
      "id": 23620,
      "label": "keratoconus 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025972",
          "MEDGEN:1645093",
          "OMIM:617928",
          "UMLS:C4693660"
        ],
        "synonyms": [
          "keratoconus 9",
          "KTCN9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054771"
    }
  ],
  "roots": [
    {
      "id": 3211,
      "label": "corneal disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 24305,
      "label": "ocular growth disorder"
    }
  ]
}