{
  "id": 8765,
  "label": "cornea plana 1, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007372",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3110,
      "label": "cornea plana",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3211,
        5714
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000733"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3110,
      "label": "cornea plana"
    }
  ]
}