{
  "id": 24171,
  "label": "RLBP1-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100444",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal 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": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [
    {
      "id": 9003,
      "label": "fundus albipunctatus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16936,
        24170,
        24171,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11105",
          "GARD:0013809",
          "ICD9:362.74",
          "ICD9:362.76",
          "MEDGEN:86317",
          "MESH:C562733",
          "OMIM:136880",
          "Orphanet:227796",
          "SCTID:68222009",
          "UMLS:C0311338",
          "icd11.foundation:1981512475"
        ],
        "synonyms": [
          "retinitis punctata albescens",
          "fundus albipunctatus",
          "pigmentary retinal 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": "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007639"
    },
    {
      "id": 12919,
      "label": "Bothnia retinal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24171
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011838"
    },
    {
      "id": 12920,
      "label": "Newfoundland cone-rod dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111015",
          "GARD:0024826",
          "MEDGEN:334840",
          "MESH:C564391",
          "OMIM:607476",
          "UMLS:C1843815"
        ],
        "synonyms": [
          "NFRCD",
          "RLBP1 cone-rod dystrophy",
          "cone-rod dystrophy caused by mutation in RLBP1",
          "Newfoundland ROD-cone 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": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011839"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}