{
  "id": 18261,
  "label": "corneal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018102",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 3211,
      "label": "corneal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10124",
          "EFO:0009464",
          "ICD9:371.30",
          "ICD9:371.89",
          "ICD9:371.9",
          "MEDGEN:3617",
          "MESH:D003316",
          "NCIT:C26731",
          "SCTID:15250008",
          "UMLS:C0010034",
          "icd11.foundation:980864631"
        ],
        "synonyms": [
          "cornea disease",
          "cornea disease or disorder",
          "corneal disease",
          "corneal disorder",
          "disease of cornea",
          "disease or disorder of cornea",
          "disorder of cornea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma."
      },
      "child_count": 24,
      "reference_id": "MONDO:0000942"
    }
  ],
  "children": [
    {
      "id": 3130,
      "label": "epithelial and subepithelial corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060440",
          "GARD:0022826"
        ],
        "synonyms": [
          "epithelial and subepithelial dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0000763"
    },
    {
      "id": 3131,
      "label": "epithelial-stromal TGFBI dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060441",
          "GARD:0022827"
        ],
        "synonyms": [
          "TGFBI corneal dystrophy (disease)",
          "corneal dystrophy (disease) caused by mutation in TGFBI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000764"
    },
    {
      "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": 8510,
      "label": "Finnish type amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18261,
        18631,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050637",
          "GARD:0002339",
          "ICD9:277.39",
          "MEDGEN:301243",
          "MESH:C537459",
          "NANDO:1201063",
          "OMIM:105120",
          "Orphanet:85448",
          "SCTID:419398009",
          "UMLS:C1622345"
        ],
        "synonyms": [
          "amyloidosis, MERETOJA type",
          "familial amyloid polyneuropathy type IV",
          "familial amyloidosis, Finnish type",
          "gelsolin amyloidosis",
          "hereditary amyloidosis, Finnish type",
          "meretoja syndrome",
          "AGel amyloidosis",
          "amyloid cranial neuropathy with lattice corneal dystrophy",
          "amyloidosis 5",
          "amyloidosis V",
          "amyloidosis due to mutant gelsolin",
          "amyloidosis, Finnish type",
          "amyloidosis, Meretoja type",
          "cerebral amyloid angiopathy, Gsn-related",
          "corneal dystrophy, lattice type 2",
          "hereditary gelsolin amyloidosis",
          "lattice corneal dystrophy type II Finnish",
          "lattice corneal dystrophy, type 2",
          "meretoja type amyloidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007097"
    },
    {
      "id": 9184,
      "label": "autosomal dominant keratitis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        5071,
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111383",
          "GARD:0003089",
          "MEDGEN:332039",
          "MESH:C537022",
          "OMIM:148190",
          "Orphanet:2334",
          "SCTID:715339004",
          "UMLS:C1835698",
          "icd11.foundation:682617640"
        ],
        "synonyms": [
          "hereditary keratitis",
          "keratitis, autosomal dominant",
          "dominantly inherited keratitis",
          "keratitis, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007848"
    },
    {
      "id": 9266,
      "label": "macular dystrophy, fenestrated sheen type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18261,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024588",
          "MEDGEN:331921",
          "MESH:C563607",
          "OMIM:153890",
          "UMLS:C1835173"
        ],
        "synonyms": [
          "macular dystrophy, fenestrated sheen type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007936"
    },
    {
      "id": 10269,
      "label": "band keratopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3723,
        4377,
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11164",
          "GARD:0024645",
          "ICD10CM:H18.42",
          "ICD9:371.43",
          "MEDGEN:56354",
          "MESH:C562399",
          "NCIT:C118765",
          "OMIM:217500",
          "SCTID:35055000",
          "UMLS:C0155120",
          "icd11.foundation:184627034"
        ],
        "synonyms": [
          "band keratopathy",
          "band-shaped keratopathy",
          "corneal dystrophy, band-SHAPED"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009016"
    },
    {
      "id": 19762,
      "label": "superficial corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:371.52",
          "MEDGEN:746687",
          "Orphanet:98625",
          "SCTID:430888006",
          "UMLS:C2315777"
        ],
        "synonyms": [
          "anterior corneal dystrophy",
          "corneal epithelium corneal dystrophy (disease)",
          "dystrophy of anterior cornea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020212"
    },
    {
      "id": 19763,
      "label": "stromal corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060442",
          "GARD:0019519",
          "ICD9:371.56",
          "MEDGEN:20973",
          "Orphanet:98626",
          "SCTID:231931001",
          "UMLS:C0038457",
          "icd11.foundation:1392780216"
        ],
        "synonyms": [
          "corneal dystrophy (disease) of substantia propria of cornea",
          "corneal stromal dystrophy",
          "substantia propria of cornea corneal dystrophy (disease)",
          "stromal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy."
      },
      "child_count": 10,
      "reference_id": "MONDO:0020213"
    },
    {
      "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"
    },
    {
      "id": 19830,
      "label": "Chandler syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18261,
        18905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11554",
          "GARD:0006033",
          "MEDGEN:107777",
          "MedDRA:10057487",
          "NORD:918",
          "Orphanet:98979",
          "UMLS:C0544008",
          "icd11.foundation:806443940"
        ],
        "synonyms": [
          "Chandler's Syndrome",
          "Chandler's syndrome",
          "endothelial corneal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020369"
    },
    {
      "id": 21222,
      "label": "Judge Misch wright syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        4897,
        8031,
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003061",
          "MEDGEN:419840",
          "MESH:C537692",
          "UMLS:C2931590"
        ],
        "synonyms": [
          "dry skin, photophobia hyperkeratosis, abnormal fingernails",
          "keratodermia palmoplantar periorificial",
          "palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023521"
    },
    {
      "id": 25390,
      "label": "corneal dystrophy, punctiform and polychromatic pre-descemet",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        18261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026681",
          "MEDGEN:1806182",
          "OMIM:619871",
          "UMLS:C5676982"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859248"
    }
  ],
  "roots": [
    {
      "id": 3211,
      "label": "corneal disorder"
    }
  ]
}