{
  "id": 13111,
  "label": "Reis-Bucklers corneal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012043",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3131,
      "label": "epithelial-stromal TGFBI dystrophy"
    },
    {
      "id": 19762,
      "label": "superficial corneal dystrophy"
    }
  ]
}