{
  "id": 19826,
  "label": "congenital hereditary endothelial dystrophy type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020365",
  "properties": {
    "xrefs": [
      "GARD:0019610",
      "MEDGEN:736888",
      "OMIM:121700",
      "Orphanet:98975",
      "SCTID:416633008",
      "UMLS:C1562945"
    ],
    "synonyms": [
      "CHED1",
      "CHEDI",
      "autosomal dominant CHED",
      "autosomal dominant congenital hereditary endothelial dystrophy",
      "congenital hereditary endothelial dystrophy type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 19764,
      "label": "posterior corneal dystrophy"
    }
  ]
}