{
  "id": 7012,
  "label": "Fuchs' endothelial dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005321",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 3132,
      "label": "corneal endothelial dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060443",
          "GARD:0022828",
          "ICD9:371.57",
          "MEDGEN:1779156",
          "SCTID:416960004",
          "UMLS:C5441823"
        ],
        "synonyms": [
          "corneal dystrophy (disease) of corneal epithelium",
          "endothelial dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A corneal dystrophy (disease) that involves the corneal epithelium."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000766"
    },
    {
      "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": 19764,
      "label": "posterior corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019520",
          "ICD9:371.58",
          "MEDGEN:810969",
          "Orphanet:98627",
          "SCTID:35091000119101",
          "UMLS:C2063478",
          "icd11.foundation:570101963"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0020214"
    }
  ],
  "children": [
    {
      "id": 9001,
      "label": "corneal dystrophy, Fuchs endothelial, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007637"
    },
    {
      "id": 13475,
      "label": "corneal dystrophy, fuchs endothelial, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018217",
          "MEDGEN:347552",
          "MESH:C535479",
          "OMIM:610158",
          "UMLS:C1857800"
        ],
        "synonyms": [
          "FECD2",
          "Fcd1 locus",
          "corneal dystrophy, Fuchs endothelial, 2",
          "corneal dystrophy, Fuchs endothelial, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012425"
    },
    {
      "id": 14239,
      "label": "corneal dystrophy, Fuchs endothelial, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018218",
          "MEDGEN:442479",
          "MESH:C567678",
          "OMIM:613267",
          "UMLS:C2750451"
        ],
        "synonyms": [
          "Fuchs' endothelial dystrophy caused by mutation in TCF4",
          "TCF4 Fuchs' endothelial dystrophy",
          "corneal dystrophy, Fuchs endothelial, 3",
          "corneal dystrophy, Fuchs endothelial, type 3",
          "FECD3",
          "Fcd2 locus",
          "corneal dystrophy, Fuchs endothelial, late-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 TCF4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013203"
    },
    {
      "id": 14240,
      "label": "corneal dystrophy, Fuchs endothelial, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018219",
          "MEDGEN:413309",
          "MESH:C567677",
          "OMIM:613268",
          "UMLS:C2750450"
        ],
        "synonyms": [
          "Fuchs' endothelial dystrophy caused by mutation in SLC4A11",
          "SLC4A11 Fuchs' endothelial dystrophy",
          "corneal dystrophy, Fuchs endothelial, 4",
          "corneal dystrophy, Fuchs endothelial, type 4",
          "FECD4",
          "corneal dystrophy, Fuchs endothelial, late-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 SLC4A11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013204"
    },
    {
      "id": 14241,
      "label": "corneal dystrophy, fuchs endothelial, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018220",
          "MEDGEN:413308",
          "MESH:C567676",
          "OMIM:613269",
          "UMLS:C2750449"
        ],
        "synonyms": [
          "FECD5",
          "Fcd3 locus",
          "corneal dystrophy, Fuchs endothelial, 5",
          "corneal dystrophy, Fuchs endothelial, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013205"
    },
    {
      "id": 14242,
      "label": "corneal dystrophy, Fuchs endothelial, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018221",
          "MEDGEN:442478",
          "MESH:C567675",
          "OMIM:613270",
          "UMLS:C2750448"
        ],
        "synonyms": [
          "Fuchs' endothelial dystrophy caused by mutation in ZEB1",
          "ZEB1 Fuchs' endothelial dystrophy",
          "corneal dystrophy, Fuchs endothelial, 6",
          "corneal dystrophy, Fuchs endothelial, type 6",
          "FECD6",
          "corneal dystrophy, Fuchs endothelial, late-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 ZEB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013206"
    },
    {
      "id": 14243,
      "label": "corneal dystrophy, fuchs endothelial, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018222",
          "MEDGEN:413849",
          "MESH:C567674",
          "OMIM:613271",
          "UMLS:C2750447"
        ],
        "synonyms": [
          "FECD7",
          "Fcd4 locus",
          "corneal dystrophy, Fuchs endothelial, 7",
          "corneal dystrophy, Fuchs endothelial, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013207"
    },
    {
      "id": 15234,
      "label": "corneal dystrophy, Fuchs endothelial, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7012
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018223",
          "MEDGEN:816128",
          "OMIM:615523",
          "UMLS:C3809798"
        ],
        "synonyms": [
          "AGBL1 Fuchs' endothelial dystrophy",
          "Fuchs' endothelial dystrophy caused by mutation in AGBL1",
          "corneal dystrophy, Fuchs endothelial, 8",
          "corneal dystrophy, Fuchs endothelial, type 8",
          "FECD8"
        ],
        "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 AGBL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014228"
    }
  ],
  "roots": [
    {
      "id": 3132,
      "label": "corneal endothelial dystrophy"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19764,
      "label": "posterior corneal dystrophy"
    }
  ]
}