{
  "id": 9003,
  "label": "fundus albipunctatus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007639",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    },
    {
      "id": 24170,
      "label": "RDH5-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026218"
        ],
        "synonyms": [
          "RDH5 retinopathy",
          "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 RDH5 gene, often involving flecks in the retina."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100443"
    },
    {
      "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"
    },
    {
      "id": 29285,
      "label": "PRPH2-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027257"
        ],
        "synonyms": [
          "PRPH2-related 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"
          }
        ],
        "definition": "Any retinopathy caused by a variant or variants in the PRPH2 gene."
      },
      "child_count": 7,
      "reference_id": "MONDO:1040055"
    }
  ],
  "children": [
    {
      "id": 18809,
      "label": "retinitis punctata albescens",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9003
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016655",
          "MEDGEN:278050",
          "Orphanet:52427",
          "SCTID:715562001",
          "UMLS:C1405854",
          "icd11.foundation:567796529"
        ],
        "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": 0,
      "reference_id": "MONDO:0018877"
    }
  ],
  "roots": [
    {
      "id": 16936,
      "label": "familial flecked retinopathy"
    },
    {
      "id": 24170,
      "label": "RDH5-related retinopathy"
    },
    {
      "id": 24171,
      "label": "RLBP1-related retinopathy"
    },
    {
      "id": 29285,
      "label": "PRPH2-related retinopathy"
    }
  ]
}