{
  "id": 13112,
  "label": "corneal dystrophy, lattice type 3A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012044",
  "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."
  },
  "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": 6468,
      "label": "lattice corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19763
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8943",
          "GARD:0024087",
          "HP:0001149",
          "ICD10CM:H18.54",
          "ICD9:277.39",
          "ICD9:357.4",
          "MEDGEN:56355",
          "SCTID:1192004",
          "UMLS:C0155127",
          "icd11.foundation:1247885635"
        ],
        "synonyms": [
          "lattice corneal dystrophy",
          "lattice corneal dystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0004686"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3131,
      "label": "epithelial-stromal TGFBI dystrophy"
    },
    {
      "id": 6468,
      "label": "lattice corneal dystrophy"
    }
  ]
}