{
  "id": 3110,
  "label": "cornea plana",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000733",
  "properties": {
    "xrefs": [
      "DOID:0060287",
      "GARD:0016657",
      "HP:0007720",
      "ICD10CM:Q13.4",
      "MEDGEN:576329",
      "OMIMPS:121400",
      "Orphanet:53691",
      "SCTID:204145006",
      "UMLS:C0344529",
      "icd11.foundation:262157734"
    ],
    "synonyms": [
      "congenital cornea plana",
      "flat cornea"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    }
  ],
  "children": [
    {
      "id": 8765,
      "label": "cornea plana 1, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018049",
          "MEDGEN:343837",
          "MESH:C565158",
          "OMIM:121400",
          "UMLS:C1852557"
        ],
        "synonyms": [
          "cornea plana 1, autosomal dominant",
          "CNA1",
          "cornea plana 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007372"
    },
    {
      "id": 10267,
      "label": "cornea plana 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018050",
          "MEDGEN:346616",
          "MESH:C565677",
          "OMIM:217300",
          "UMLS:C1857574"
        ],
        "synonyms": [
          "KERA cornea plana",
          "cornea plana 2",
          "cornea plana caused by mutation in KERA",
          "cornea plana type 2",
          "CNA2",
          "cornea plana 2, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any cornea plana in which the cause of the disease is a mutation in the KERA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009014"
    }
  ],
  "roots": [
    {
      "id": 3211,
      "label": "corneal disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}