{
  "id": 12562,
  "label": "Leber congenital amaurosis 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011458",
  "properties": {
    "xrefs": [
      "DOID:0110332",
      "GARD:0009662",
      "MEDGEN:346808",
      "MESH:C565778",
      "OMIM:604393",
      "UMLS:C1858386"
    ],
    "synonyms": [
      "cone-rod dystrophy",
      "AIPL1 Leber congenital amaurosis",
      "LCA4",
      "Leber congenital amaurosis 4",
      "Leber congenital amaurosis caused by mutation in AIPL1",
      "Leber congenital amaurosis type 4",
      "amaurosis congenita of Leber, type 4",
      "cone-rod dystrophy, Aipl1-related",
      "retinitis pigmentosa, juvenile",
      "retinitis pigmentosa, juvenile, Aipl1-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 AIPL1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16636,
      "label": "cone-rod dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050572",
          "GARD:0010790",
          "MEDGEN:896366",
          "MESH:D000071700",
          "NANDO:1200937",
          "OMIMPS:120970",
          "Orphanet:1872",
          "UMLS:C4085590"
        ],
        "synonyms": [
          "CRD",
          "cone rod dystrophy"
        ],
        "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": "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies."
      },
      "child_count": 28,
      "reference_id": "MONDO:0015993"
    },
    {
      "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": 24165,
      "label": "AIPL1-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026214"
        ],
        "synonyms": [
          "AIPL1 retinopathy",
          "AIPL1 Leber congenital amaurosis",
          "LCA4",
          "Leber congenital amaurosis 4",
          "Leber congenital amaurosis caused by mutation in AIPL1",
          "Leber congenital amaurosis type 4",
          "amaurosis congenita of Leber, type 4",
          "cone-rod dystrophy",
          "cone-rod dystrophy, AIPL1-related",
          "retinitis pigmentosa, juvenile",
          "retinitis pigmentosa, juvenile, AIPL1-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": "A retinopathy caused by biallelic variants in the AIPL1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100438"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16636,
      "label": "cone-rod dystrophy"
    },
    {
      "id": 18914,
      "label": "Leber congenital amaurosis"
    },
    {
      "id": 24165,
      "label": "AIPL1-related retinopathy"
    }
  ]
}