{
  "id": 23719,
  "label": "Leber congenital amaurosis with early-onset deafness",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0060650",
  "properties": {
    "xrefs": [
      "DOID:0112240",
      "GARD:0026002",
      "MEDGEN:1646810",
      "OMIM:617879",
      "UMLS:C4693498"
    ],
    "synonyms": [
      "Leber congenital amaurosis with early-onset deafness",
      "LCAEOD"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "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": 20852,
      "label": "retinal ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        7000,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019987",
          "MEDGEN:1843204",
          "Orphanet:156165",
          "UMLS:C5680651"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 27,
      "reference_id": "MONDO:0022410"
    },
    {
      "id": 29300,
      "label": "TUBB4B-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028151"
        ],
        "synonyms": [
          "TUBB4B-related ciliopathy"
        ],
        "definition": "Any ciliopathy in which the cause of the disease is a variant in the TUBB4B gene. Please note that patient diagnoses can include disorders such as Leber congenital amaurosis and/or primary ciliary dyskinesia."
      },
      "child_count": 1,
      "reference_id": "MONDO:1060115"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18914,
      "label": "Leber congenital amaurosis"
    },
    {
      "id": 20852,
      "label": "retinal ciliopathy"
    },
    {
      "id": 29300,
      "label": "TUBB4B-related ciliopathy"
    }
  ]
}