{
  "id": 9001,
  "label": "corneal dystrophy, Fuchs endothelial, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007637",
  "properties": {
    "xrefs": [
      "GARD:0018216",
      "MEDGEN:338172",
      "MESH:C535478",
      "OMIM:136800",
      "UMLS:C1850959"
    ],
    "synonyms": [
      "COL8A2 Fuchs' endothelial dystrophy",
      "Fuchs' endothelial dystrophy caused by mutation in COL8A2",
      "corneal dystrophy, Fuchs endothelial, 1",
      "corneal dystrophy, Fuchs endothelial, type 1",
      "FECD1",
      "corneal dystrophy, Fuchs endothelial, early-onset"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7012,
      "label": "Fuchs' endothelial dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3132,
        5714,
        19764
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11555",
          "GARD:0010018",
          "MEDGEN:4800",
          "MESH:D005642",
          "NCIT:C84721",
          "OMIMPS:136800",
          "Orphanet:98974",
          "SCTID:193839007",
          "UMLS:C0016781"
        ],
        "synonyms": [
          "Endoepithelial corneal dystrophy",
          "FECD",
          "Fuchs endothelial dystrophy",
          "corneal dystrophy, Fuchs endothelial",
          "late hereditary endothelial dystrophy",
          "Fuchs endothelial corneal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity."
      },
      "child_count": 24,
      "reference_id": "MONDO:0005321"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7012,
      "label": "Fuchs' endothelial dystrophy"
    }
  ]
}