{
  "id": 12520,
  "label": "Leber congenital amaurosis 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011415",
  "properties": {
    "xrefs": [
      "DOID:0110331",
      "GARD:0009661",
      "MEDGEN:346964",
      "MESH:C565814",
      "OMIM:604232",
      "UMLS:C1858677"
    ],
    "synonyms": [
      "LCA3",
      "Leber congenital amaurosis 3",
      "Leber congenital amaurosis caused by mutation in SPATA7",
      "Leber congenital amaurosis type 3",
      "SPATA7 Leber congenital amaurosis",
      "retinitis pigmentosa, juvenile, autosomal recessive",
      "amaurosis congenita of Leber, type 3",
      "retinitis pigmentosa, juvenile, Spata7-related"
    ],
    "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 SPATA7 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": 29292,
      "label": "SPATA7-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028149"
        ],
        "synonyms": [
          "SPATA7-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 variants in the SPATA7 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1040070"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18914,
      "label": "Leber congenital amaurosis"
    },
    {
      "id": 29292,
      "label": "SPATA7-related retinopathy"
    }
  ]
}