{
  "id": 12919,
  "label": "Bothnia retinal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011838",
  "properties": {
    "xrefs": [
      "DOID:0050683",
      "GARD:0016734",
      "MEDGEN:334499",
      "MESH:C564392",
      "OMIM:607475",
      "Orphanet:85128",
      "SCTID:715647007",
      "UMLS:C1843816",
      "icd11.foundation:2110390212"
    ],
    "synonyms": [
      "Bothnia retinal dystrophy",
      "VC$sterbotten dystrophy",
      "Vasterbotten dystrophy",
      "Västerbotten 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": "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24171,
      "label": "RLBP1-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061127",
          "GARD:0026219"
        ],
        "synonyms": [
          "RLBP1 retinopathy",
          "Bothnia retinal dystrophy",
          "NFRCD",
          "Newfoundland ROD-cone dystrophy",
          "Newfoundland rod-cone dystrophy",
          "RLBP1 cone-rod dystrophy",
          "Vasterbotten dystrophy",
          "Västerbotten dystrophy",
          "cone-rod dystrophy caused by mutation in RLBP1",
          "fundus albipunctatus",
          "pigmentary retinal dystrophy",
          "retinitis punctata albescens"
        ],
        "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": "A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100444"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24171,
      "label": "RLBP1-related retinopathy"
    }
  ]
}