{
  "id": 19762,
  "label": "superficial corneal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020212",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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": 8768,
      "label": "epithelial basement membrane dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3130,
        3131,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060447",
          "GARD:0009732",
          "MEDGEN:99275",
          "MESH:C535477",
          "OMIM:121820",
          "Orphanet:98956",
          "SCTID:373426005",
          "UMLS:C0521723"
        ],
        "synonyms": [
          "Cogan corneal dystrophy",
          "Cogan microcystic epithelial dystrophy",
          "EBMD",
          "Map-dot-fingerprint dystrophy",
          "anterior basement membrane dystrophy",
          "Map-dot-fingerprint dystrophy of cornea",
          "corneal dystrophy, Map-Dot-Fingerprint type",
          "corneal dystrophy, anterior basement Membrane",
          "corneal dystrophy, epithelial basement MEMBRANE",
          "corneal dystrophy, microcystic",
          "epithelial basement membrane corneal dystrophy",
          "microcystic dystrophy of the cornea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007375"
    },
    {
      "id": 8772,
      "label": "Meesmann corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3130,
        5714,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060451",
          "GARD:0009688",
          "ICD9:371.51",
          "MEDGEN:83283",
          "MESH:D053559",
          "NCIT:C84795",
          "OMIMPS:122100",
          "Orphanet:98954",
          "SCTID:1674008",
          "UMLS:C0339277"
        ],
        "synonyms": [
          "MECD",
          "Meesmann corneal dystrophy",
          "juvenile epithelial of Meesmann corneal dystrophy",
          "juvenile hereditary epithelial dystrophy of Meesmann",
          "Meesman dystrophy",
          "Meesmann corneal epithelial dystrophy",
          "corneal dystrophy, Meesmann",
          "corneal dystrophy, Meesmann epithelial",
          "corneal dystrophy, juvenile epithelial of Meesmann",
          "corneal dystrophy, juvenile epithelial, of Meesmann"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007379"
    },
    {
      "id": 8774,
      "label": "epithelial recurrent erosion dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070337",
          "GARD:0017338",
          "MEDGEN:342263",
          "MESH:C565155",
          "OMIM:122400",
          "Orphanet:293381",
          "SCTID:715908008",
          "UMLS:C1852551",
          "icd11.foundation:1105690299"
        ],
        "synonyms": [
          "ERED",
          "dystrophia Helsinglandica",
          "dystrophia Smolandiensis",
          "epithelial recurrent erosion dystrophy",
          "recurrent hereditary corneal erosions",
          "corneal erosions, recurring hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007381"
    },
    {
      "id": 8872,
      "label": "hereditary benign intraepithelial dyskeratosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017524",
          "MEDGEN:75588",
          "MESH:C562551",
          "NCIT:C3940",
          "OMIM:127600",
          "Orphanet:352657",
          "SCTID:400014002",
          "UMLS:C0265966",
          "icd11.foundation:2059594980"
        ],
        "synonyms": [
          "HBID",
          "Witkop-Von Sallmann disease",
          "hereditary benign corneal intraepithelial dyskeratosis",
          "Dkbi",
          "dyskeratosis, hereditary benign intraepithelial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007486"
    },
    {
      "id": 10049,
      "label": "gelatinous drop-like corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3130,
        5714,
        6468,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060449",
          "GARD:0009647",
          "MEDGEN:90939",
          "MESH:C535480",
          "NANDO:1201006",
          "NCIT:C142805",
          "OMIM:204870",
          "Orphanet:98957",
          "UMLS:C0339273",
          "icd11.foundation:1062815669"
        ],
        "synonyms": [
          "GDCD",
          "corneal amyloidosis",
          "gelatinous drop-like corneal dystrophy",
          "primary familial amyloidosis of the cornea",
          "subepithelial amyloidosis of the cornea",
          "CDGDL",
          "Cdgdl",
          "GDLD",
          "amyloid corneal dystrophy, Japanese type",
          "amyloidosis corneal",
          "amyloidosis, corneal",
          "corneal dystrophy, gelatinous drop-like",
          "corneal dystrophy, lattice type 3",
          "lattice corneal dystrophy type 3",
          "lattice corneal dystrophy, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008777"
    },
    {
      "id": 11585,
      "label": "Lisch epithelial corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3130,
        5714,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060450",
          "GARD:0016877",
          "MEDGEN:411737",
          "MESH:C567588",
          "OMIM:300778",
          "OMIM:620763",
          "Orphanet:98955",
          "SCTID:724175002",
          "UMLS:C2749050",
          "icd11.foundation:1571503165"
        ],
        "synonyms": [
          "LECD",
          "Lisch epithelial corneal dystrophy",
          "band-shaped and whorled microcystic dystrophy of the corneal epithelium",
          "corneal dystrophy, Lisch epithelial, X-linked dominant",
          "band-Shaped and whorled microcystic corneal epithelial dystrophy",
          "corneal dystrophy, Lisch epithelial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010425"
    },
    {
      "id": 12307,
      "label": "Thiel-Behnke corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3131,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060455",
          "GARD:0009275",
          "ICD9:371.52",
          "MEDGEN:287070",
          "MESH:C535942",
          "OMIM:602082",
          "Orphanet:98960",
          "SCTID:417065002",
          "UMLS:C1562894",
          "icd11.foundation:2082568100"
        ],
        "synonyms": [
          "TBCD",
          "Thiel-Behnke corneal dystrophy",
          "Waardenburg-Jonker corneal dystrophy",
          "anterior limiting membrane dystrophy type 2",
          "anterior limiting membrane dystrophy type II",
          "corneal dystrophy of Bowman layer type 2",
          "corneal dystrophy of Bowman layer type II",
          "curly fiber corneal dystrophy",
          "curly fibre corneal dystrophy",
          "honeycomb corneal dystrophy",
          "CDB2",
          "CDTB",
          "Thiel Behnke corneal dystrophy",
          "corneal dystrophy Thiel Behnke type",
          "corneal dystrophy honeycomb shaped",
          "corneal dystrophy of Bowman Layer, type 2",
          "corneal dystrophy of the Bowman layer type 2",
          "corneal dystrophy, Thiel-Behnke type",
          "corneal dystrophy, honeycomb-Shaped"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011185"
    },
    {
      "id": 13111,
      "label": "Reis-Bucklers corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3131,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060453",
          "GARD:0009276",
          "ICD9:371.52",
          "MEDGEN:83284",
          "MESH:C535476",
          "OMIM:608470",
          "Orphanet:98961",
          "SCTID:231930000",
          "UMLS:C0339278"
        ],
        "synonyms": [
          "RBCD",
          "Reis-Bucklers corneal dystrophy",
          "anterior limiting membrane dystrophy type 1",
          "anterior limiting membrane dystrophy type I",
          "atypical granular corneal dystrophy",
          "corneal dystrophy of Bowman layer type 1",
          "corneal dystrophy of Bowman layer type I",
          "geographic corneal dystrophy",
          "granular corneal dystrophy type 3",
          "granular corneal dystrophy type III",
          "superficial granular corneal dystrophy",
          "CDB1",
          "CDRB",
          "Reis Bucklers corneal dystrophy",
          "Reis Bucklers dystrophy",
          "Reis-Bücklers corneal dystrophy",
          "corneal dystrophy Reis Bucklers type",
          "corneal dystrophy geographic",
          "corneal dystrophy of Bowman Layer, type 1",
          "corneal dystrophy, REIS-Bucklers type",
          "corneal dystrophy, geographic",
          "granular corneal dystrophy, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012043"
    },
    {
      "id": 14064,
      "label": "subepithelial mucinous corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3130,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060454",
          "GARD:0016878",
          "MEDGEN:411595",
          "MESH:C567547",
          "OMIM:612867",
          "Orphanet:98959",
          "SCTID:723582004",
          "UMLS:C2748503",
          "icd11.foundation:943706174"
        ],
        "synonyms": [
          "SMCD",
          "subepithelial mucinous corneal dystrophy",
          "corneal dystrophy, subepithelial mucinous"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013026"
    },
    {
      "id": 15098,
      "label": "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17917,
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017525",
          "MEDGEN:815206",
          "OMIM:615225",
          "OMIM:616964",
          "Orphanet:352662",
          "UMLS:C3808876"
        ],
        "synonyms": [
          "MSPC",
          "palmoplantar carcinoma, multiple self-healing",
          "palmoplantar carcinoma, multiple self-healing; MSPC",
          "CIDED",
          "corneal intraepithelial dyskeratosis and ectodermal dysplasia",
          "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014089"
    },
    {
      "id": 17699,
      "label": "Grayson-Wilbrandt corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021167",
          "MEDGEN:931248",
          "Orphanet:293375",
          "SCTID:717286002",
          "UMLS:C4305579",
          "icd11.foundation:1667542240"
        ],
        "synonyms": [
          "GWCD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017391"
    },
    {
      "id": 19824,
      "label": "honey-droplet corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019609",
          "MEDGEN:573075",
          "Orphanet:98958",
          "UMLS:C0339300",
          "icd11.foundation:896313309"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020363"
    }
  ],
  "roots": [
    {
      "id": 18261,
      "label": "corneal dystrophy"
    }
  ]
}