{
  "id": 24096,
  "label": "RPE65-related recessive retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100368",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 10037,
      "label": "Leber congenital amaurosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110016",
          "GARD:0000636",
          "MEDGEN:348473",
          "MESH:C536601",
          "OMIM:204100",
          "UMLS:C1859844"
        ],
        "synonyms": [
          "LCA2",
          "Leber congenital amaurosis 2",
          "Leber congenital amaurosis caused by mutation in RPE65",
          "Leber congenital amaurosis type 2",
          "RPE65 Leber congenital amaurosis",
          "amaurosis congenita of Leber 2",
          "amaurosis congenita of Leber, type 2"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008765"
    },
    {
      "id": 14457,
      "label": "retinitis pigmentosa 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        24096
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013425"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}