{
  "id": 24165,
  "label": "AIPL1-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100438",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal 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": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [
    {
      "id": 12562,
      "label": "Leber congenital amaurosis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        18914,
        24165
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011458"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}