{
  "id": 3132,
  "label": "corneal endothelial dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000766",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 18261,
      "label": "corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3211
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2566",
          "GARD:0027867",
          "HP:0001131",
          "ICD9:371.5",
          "ICD9:371.50",
          "MEDGEN:3619",
          "MESH:D003317",
          "MedDRA:10011005",
          "NCIT:C34513",
          "Orphanet:34533",
          "SCTID:5587004",
          "UMLS:C0010036",
          "icd11.foundation:1291475891"
        ],
        "synonyms": [
          "corneal dystrophy",
          "corneal dystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value."
      },
      "child_count": 13,
      "reference_id": "MONDO:0018102"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 10272,
      "label": "congenital hereditary endothelial dystrophy of cornea",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3132,
        5714,
        19764
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009019"
    },
    {
      "id": 11586,
      "label": "X-linked endothelial corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3132,
        19764
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060446",
          "GARD:0017339",
          "MEDGEN:413518",
          "MESH:C567587",
          "OMIM:300779",
          "Orphanet:293621",
          "SCTID:718579008",
          "UMLS:C2749049",
          "icd11.foundation:1842066261"
        ],
        "synonyms": [
          "XECD",
          "corneal dystrophy, endothelial, X-linked, X-linked dominant",
          "corneal dystrophy, endothelial, X-linked",
          "endothelial corneal dystrophy, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010426"
    },
    {
      "id": 19825,
      "label": "posterior polymorphous corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3132,
        5714,
        19764
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060457",
          "GARD:0016882",
          "MEDGEN:87382",
          "OMIMPS:122000",
          "Orphanet:98973",
          "UMLS:C0339284",
          "icd11.foundation:935421185"
        ],
        "synonyms": [
          "PPCD",
          "Schlichting dystrophy",
          "corneal dystrophy, posterior polymorphous",
          "posterior polymorphous dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020364"
    }
  ],
  "roots": [
    {
      "id": 18261,
      "label": "corneal dystrophy"
    }
  ]
}