{
  "id": 10036,
  "label": "Leber congenital amaurosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008764",
  "properties": {
    "xrefs": [
      "DOID:0110078",
      "GARD:0000635",
      "MEDGEN:419026",
      "OMIM:204000",
      "UMLS:C2931258"
    ],
    "synonyms": [
      "GUCY2D Leber congenital amaurosis",
      "LCA1",
      "Leber congenital amaurosis 1",
      "Leber congenital amaurosis caused by mutation in GUCY2D",
      "Leber congenital amaurosis type 1",
      "CRB",
      "LCA",
      "amaurosis congenita of Leber 1",
      "amaurosis congenita of Leber, type 1",
      "retinal blindness, congenital"
    ],
    "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 GUCY2D 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": 24180,
      "label": "GUCY2D-related recessive retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026227"
        ],
        "synonyms": [
          "recessive GUCY2D retinopathy",
          "CORD6",
          "CRB",
          "GUCY2D Leber congenital amaurosis",
          "GUCY2D cone-rod dystrophy",
          "LCA",
          "LCA1",
          "Leber congenital amaurosis 1",
          "Leber congenital amaurosis caused by mutation in GUCY2D",
          "Leber congenital amaurosis type 1",
          "RCD2",
          "amaurosis congenita of Leber 1",
          "amaurosis congenita of Leber I",
          "amaurosis congenita of Leber, type 1",
          "cone-rod dystrophy 6",
          "cone-rod dystrophy caused by mutation in GUCY2D",
          "cone-rod dystrophy type 6",
          "night blindness, congenital stationary, type 1I",
          "retinal blindness, congenital",
          "retinal cone dystrophy 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": "A retinopathy caused by biallelic variants in the GUCY2D gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100453"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18914,
      "label": "Leber congenital amaurosis"
    },
    {
      "id": 24180,
      "label": "GUCY2D-related recessive retinopathy"
    }
  ]
}