{
  "id": 10130,
  "label": "Bietti crystalline corneoretinal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008865",
  "properties": {
    "xrefs": [
      "DOID:0050664",
      "GARD:0010050",
      "MEDGEN:347895",
      "MESH:C535440",
      "NCIT:C179299",
      "OMIM:210370",
      "Orphanet:41751",
      "SCTID:312927001",
      "UMLS:C1859486"
    ],
    "synonyms": [
      "BCD",
      "Bietti crystalline corneoretinal dystrophy",
      "Bietti crystalline retinopathy",
      "Bietti crystalline dystrophy",
      "Bietti tapetoretinal Degeneration with marginal corneal dystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16936,
      "label": "familial flecked retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:227786",
          "icd11.foundation:979898273"
        ],
        "synonyms": [
          "hereditary flecked retinopathy"
        ],
        "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": 5,
      "reference_id": "MONDO:0016420"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16936,
      "label": "familial flecked retinopathy"
    }
  ]
}