{
  "id": 10037,
  "label": "Leber congenital amaurosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008765",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18914,
      "label": "Leber congenital amaurosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14791",
          "GARD:0000634",
          "MEDGEN:137922",
          "MESH:D057130",
          "MedDRA:10070667",
          "NCIT:C129075",
          "NORD:1351",
          "OMIMPS:204000",
          "Orphanet:65",
          "SCTID:193413001",
          "UMLS:C0339527",
          "icd11.foundation:650490256"
        ],
        "synonyms": [
          "Leber congenital amaurosis",
          "amaurosis congenita of Leber",
          "Leber's congenital tapetoretinal degeneration",
          "Leber's congenital tapetoretinal dysplasia",
          "congenital absence of the rods and cones",
          "congenital retinal blindness"
        ],
        "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": "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018998"
    },
    {
      "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": 18914,
      "label": "Leber congenital amaurosis"
    },
    {
      "id": 24096,
      "label": "RPE65-related recessive retinopathy"
    }
  ]
}