{
  "id": 3131,
  "label": "epithelial-stromal TGFBI dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000764",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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": 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": 3700,
      "label": "corneal granular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3131
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12318",
          "GARD:0022956",
          "ICD10CM:H18.53",
          "ICD9:371.53",
          "MEDGEN:42290",
          "NCIT:C34651",
          "SCTID:45283008",
          "UMLS:C0018179",
          "icd11.foundation:965716695"
        ],
        "synonyms": [
          "granular corneal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001490"
    },
    {
      "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": 8770,
      "label": "granular corneal dystrophy type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3131,
        19763
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080530",
          "GARD:0009677",
          "MEDGEN:351521",
          "MESH:C537304",
          "OMIM:121900",
          "Orphanet:98962",
          "SCTID:419039007",
          "UMLS:C1641846"
        ],
        "synonyms": [
          "GCD1",
          "GCDI",
          "classic GCD",
          "classic granular corneal dystrophy",
          "corneal dystrophy Groenouw type I",
          "granular corneal dystrophy type 1",
          "CDGG1",
          "Groenouw type I corneal dystrophy",
          "corneal dystrophy granular type",
          "corneal dystrophy punctate or nodular",
          "corneal dystrophy, Groenouw type 1",
          "corneal dystrophy, Groenouw type I",
          "corneal dystrophy, punctate or nodular",
          "granular corneal dystrophy, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007377"
    },
    {
      "id": 8773,
      "label": "lattice corneal dystrophy type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3131,
        6468
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009678",
          "MEDGEN:305533",
          "MESH:C537881",
          "OMIM:122200",
          "Orphanet:98964",
          "SCTID:419197009",
          "UMLS:C1690006"
        ],
        "synonyms": [
          "Biber-Haab-Dimmer dystrophy",
          "LCD1",
          "LCDI",
          "Lcd1",
          "classic lattice corneal dystrophy",
          "lattice corneal dystrophy type 1",
          "CDL1",
          "LCD",
          "corneal dystrophy, lattice type 1",
          "corneal dystrophy, lattice type I",
          "lattice corneal dystrophy, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007380"
    },
    {
      "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": 12936,
      "label": "granular corneal dystrophy type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3131,
        19763
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060444",
          "GARD:0009278",
          "ICD9:371.56",
          "MEDGEN:220900",
          "MESH:C535474",
          "OMIM:607541",
          "Orphanet:98963",
          "SCTID:397568004",
          "UMLS:C1275685"
        ],
        "synonyms": [
          "Avellino corneal dystrophy",
          "CGD2",
          "GCD2",
          "GCDII",
          "avellino corneal dystrophy",
          "combined granular-lattice corneal dystrophy",
          "granular corneal dystrophy type 2",
          "granular-lattice corneal dystrophy",
          "ACD",
          "CDA",
          "combined granular-lattice corneal dystrophies",
          "corneal dystrophy Avellino type",
          "corneal dystrophy, AVELLINO type",
          "granular and lattice corneal dystrophies",
          "granular corneal dystrophy, type 2",
          "granular-lattice (Avellino) corneal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011855"
    },
    {
      "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": 13112,
      "label": "corneal dystrophy, lattice type 3A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3131,
        6468
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010320",
          "MEDGEN:332989",
          "MESH:C563923",
          "OMIM:608471",
          "UMLS:C1837974"
        ],
        "synonyms": [
          "CDL3A",
          "corneal dystrophy, lattice type IIIA",
          "lattice corneal dystrophy type 3A",
          "lattice corneal dystrophy type III A",
          "lattice corneal dystrophy, type 3A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012044"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18261,
      "label": "corneal dystrophy"
    }
  ]
}