{
  "id": 29285,
  "label": "PRPH2-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040055",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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": 9518,
      "label": "patterned macular dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19841,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060866",
          "GARD:0018237",
          "MEDGEN:1646806",
          "OMIM:169150",
          "UMLS:C4551999"
        ],
        "synonyms": [
          "MDPT1",
          "PRPH2 patterned macular dystrophy",
          "macular dystrophy, butterfly-shaped pigmentary",
          "macular dystrophy, patterned, type 1",
          "patterned macular dystrophy caused by mutation in PRPH2",
          "patterned macular dystrophy type 1",
          "butterfly dystrophy of retinal pigment epithelium",
          "butterfly-shaped pigment dystrophy of the fovea",
          "macular dystrophy, butterfly-Shaped pigmentary",
          "macular dystrophy, patterned, 1",
          "patterned dystrophy of retinal pigment epithelium"
        ],
        "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 patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008210"
    },
    {
      "id": 13045,
      "label": "retinitis pigmentosa 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110383",
          "GARD:0010386",
          "MEDGEN:334168",
          "OMIM:608133",
          "UMLS:C1842475"
        ],
        "synonyms": [
          "RP 7",
          "RP7",
          "retinitis pigmentosa 7",
          "retinitis pigmentosa type 7"
        ],
        "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 retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011974"
    },
    {
      "id": 14174,
      "label": "choroidal dystrophy, central areolar 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10240,
        23165,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015615",
          "MEDGEN:442696",
          "MESH:C567750",
          "OMIM:613105",
          "UMLS:C2751290"
        ],
        "synonyms": [
          "PRPH2 central areolar choroidal dystrophy",
          "central areolar choroidal dystrophy caused by mutation in PRPH2",
          "choroidal dystrophy, central areolar 2",
          "choroidal dystrophy, central areolar type 2",
          "CACD2",
          "macular dystrophy, progressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013137"
    },
    {
      "id": 21506,
      "label": "vitelliform macular dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13050,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025431",
          "OMIM:608161"
        ],
        "synonyms": [
          "PRPH2 vitelliform macular dystrophy",
          "vitelliform macular dystrophy caused by mutation in PRPH2",
          "VMD3",
          "foveomacular dystrophy, adult-onset",
          "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization",
          "macular dystrophy, vitelliform, 3",
          "vitelliform macular dystrophy, adult-onset"
        ],
        "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 vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024561"
    },
    {
      "id": 29317,
      "label": "retinitis pigmentosa 7, digenic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028161",
          "MEDGEN:393414",
          "UMLS:C2675552"
        ],
        "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 digenic form of retinitis pigmentosa resulting from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene, leading to progressive degeneration of the retina and vision loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060144"
    },
    {
      "id": 29318,
      "label": "Leber congenital amaurosis 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028162",
          "MEDGEN:861539",
          "UMLS:C4013102"
        ],
        "synonyms": [
          "LCA18"
        ],
        "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 Leber congenital amaurosis that is caused by a variation in the PRPH2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060145"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}