{
  "id": 14457,
  "label": "retinitis pigmentosa 20",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013425",
  "properties": {
    "xrefs": [
      "DOID:0110353",
      "GARD:0010404",
      "HGNC:10294",
      "MEDGEN:462436",
      "MESH:C566718",
      "OMIM:613794",
      "UMLS:C3151086"
    ],
    "synonyms": [
      "RP20",
      "RPE65 retinitis pigmentosa",
      "retinitis pigmentosa 20",
      "retinitis pigmentosa caused by mutation in RPE65",
      "retinitis pigmentosa type 20",
      "RP 20"
    ],
    "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 retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19070,
      "label": "retinitis pigmentosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10584",
          "GARD:0005694",
          "MEDGEN:20551",
          "MESH:D012174",
          "MedDRA:10038914",
          "NANDO:1200431",
          "NCIT:C85045",
          "NORD:1661",
          "OMIM:268000",
          "OMIMPS:268000",
          "Orphanet:791",
          "SCTID:28835009",
          "UMLS:C0035334"
        ],
        "synonyms": [
          "retinitis pigmentosa",
          "pericentral pigmentary retinopathy",
          "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": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades."
      },
      "child_count": 101,
      "reference_id": "MONDO:0019200"
    },
    {
      "id": 24096,
      "label": "RPE65-related recessive retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026155"
        ],
        "synonyms": [
          "RPE65-related recessive retinopathy",
          "recessive RPE65 retinopathy",
          "LCA2",
          "Leber congenital amaurosis 2",
          "Leber congenital amaurosis caused by mutation in RPE65",
          "Leber congenital amaurosis type 2",
          "RP20",
          "RPE65 Leber congenital amaurosis",
          "RPE65 retinitis pigmentosa",
          "amaurosis congenita of Leber 2",
          "amaurosis congenita of Leber II",
          "amaurosis congenita of Leber, type 2",
          "retinitis pigmentosa 20",
          "retinitis pigmentosa caused by mutation in RPE65"
        ],
        "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, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100368"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19070,
      "label": "retinitis pigmentosa"
    },
    {
      "id": 24096,
      "label": "RPE65-related recessive retinopathy"
    }
  ]
}