{
  "id": 10272,
  "label": "congenital hereditary endothelial dystrophy of cornea",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009019",
  "properties": {
    "xrefs": [
      "DOID:0060649",
      "GARD:0006196",
      "MEDGEN:387857",
      "MESH:C536439",
      "OMIM:217700",
      "Orphanet:293603",
      "UMLS:C1857569"
    ],
    "synonyms": [
      "CHED",
      "CHED2",
      "CHEDII",
      "autosomal recessive CHED",
      "autosomal recessive congenital hereditary endothelial dystrophy",
      "congenital hereditary endothelial dystrophy of cornea",
      "congenital hereditary endothelial dystrophy type 2",
      "corneal endothelial dystrophy, autosomal recessive",
      "infantile hereditary endothelial dystrophy",
      "CHED2, formerly",
      "congenital hereditary endothelial dystrophy of the cornea",
      "congenital hereditary endothelial dystrophy type II",
      "corneal dystrophy, congenital hereditary endothelial",
      "corneal endothelial dystrophy",
      "corneal endothelial dystrophy 2",
      "corneal endothelial dystrophy 2, autosomal recessive",
      "corneal endothelial dystrophy 2, autosomal recessive, formerly",
      "corneal endothelial dystrophy type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 3132,
      "label": "corneal endothelial dystrophy"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19764,
      "label": "posterior corneal dystrophy"
    }
  ]
}