{
  "id": 13763,
  "label": "Leber congenital amaurosis 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012723",
  "properties": {
    "xrefs": [
      "DOID:0110291",
      "GARD:0010487",
      "MEDGEN:346672",
      "MESH:C565720",
      "OMIM:611755",
      "UMLS:C1857821"
    ],
    "synonyms": [
      "CEP290 Leber congenital amaurosis",
      "LCA10",
      "Leber congenital amaurosis 10",
      "Leber congenital amaurosis caused by mutation in CEP290",
      "Leber congenital amaurosis type 10",
      "amaurosis congenita of Leber, type 10"
    ],
    "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 CEP290 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": 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": 24178,
      "label": "CEP290-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026225"
        ],
        "synonyms": [
          "CEP290 ciliopathy",
          "BBS14",
          "Bardet-Biedl syndrome 14",
          "Bardet-Biedl syndrome type 14",
          "CEP290 Joubert syndrome",
          "CEP290 Leber congenital amaurosis",
          "CEP290 Meckel syndrome",
          "CEP290 Senior-Loken syndrome",
          "JBTS5",
          "Joubert syndrome 5",
          "Joubert syndrome caused by mutation in CEP290",
          "Joubert syndrome type 5",
          "LCA10",
          "Leber congenital amaurosis 10",
          "Leber congenital amaurosis caused by mutation in CEP290",
          "Leber congenital amaurosis type 10",
          "MKS4",
          "Meckel syndrome 4",
          "Meckel syndrome caused by mutation in CEP290",
          "Meckel syndrome, type 4",
          "Meckel-Gruber syndrome, type 4",
          "Meckel-like Cerebrorenodigital syndrome",
          "SENIOR-Loken syndrome 6",
          "SLSN6",
          "Senior-Loken syndrome 6",
          "Senior-Loken syndrome caused by mutation in CEP290",
          "Senior-Loken syndrome type 6",
          "amaurosis congenita of Leber, type 10"
        ],
        "definition": "A ciliopathy caused by biallelic variants in the CEP290 gene."
      },
      "child_count": 5,
      "reference_id": "MONDO:0100451"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18914,
      "label": "Leber congenital amaurosis"
    },
    {
      "id": 20852,
      "label": "retinal ciliopathy"
    },
    {
      "id": 24178,
      "label": "CEP290-related ciliopathy"
    }
  ]
}