{
  "id": 20852,
  "label": "retinal ciliopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0022410",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 6979,
      "label": "retinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5679",
          "EFO:0003839",
          "HGNC:8002",
          "ICD9:362.89",
          "ICD9:362.9",
          "MEDGEN:11209",
          "MESH:D012164",
          "NCIT:C26875",
          "NCIT:C62601",
          "SCTID:29555009",
          "UMLS:C0035309"
        ],
        "synonyms": [
          "eye disease of retina",
          "retina eye disease",
          "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 disease or disorder of the retina."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005283"
    },
    {
      "id": 7000,
      "label": "ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060340",
          "EFO:0003900",
          "GARD:0021544",
          "GTR:AN0966173",
          "MEDGEN:908923",
          "Orphanet:363250",
          "UMLS:C4277690"
        ],
        "synonyms": [
          "ciliopathy",
          "ciliopathies"
        ],
        "definition": "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005308"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 11490,
      "label": "retinitis pigmentosa 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        20852,
        29269
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110412",
          "GARD:0010391",
          "MEDGEN:238456",
          "OMIM:300424",
          "UMLS:C1419610"
        ],
        "synonyms": [
          "OFD1 retinitis pigmentosa",
          "RP23",
          "retinitis pigmentosa 23",
          "retinitis pigmentosa 23, X-linked recessive",
          "retinitis pigmentosa caused by mutation in OFD1",
          "retinitis pigmentosa type 23",
          "RP 23"
        ],
        "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 retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010320"
    },
    {
      "id": 13763,
      "label": "Leber congenital amaurosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        20852,
        24178
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012723"
    },
    {
      "id": 14309,
      "label": "retinitis pigmentosa 51",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        20852,
        29279
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110398",
          "GARD:0015665",
          "MEDGEN:462065",
          "OMIM:613464",
          "UMLS:C3150715"
        ],
        "synonyms": [
          "RP51",
          "TTC8 retinitis pigmentosa",
          "retinitis pigmentosa 51",
          "retinitis pigmentosa caused by mutation in TTC8",
          "retinitis pigmentosa type 51"
        ],
        "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 retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013274"
    },
    {
      "id": 14347,
      "label": "retinitis pigmentosa 55",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        20852,
        29289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110370",
          "GARD:0015677",
          "MEDGEN:462158",
          "OMIM:613575",
          "UMLS:C3150808"
        ],
        "synonyms": [
          "ARL6 retinitis pigmentosa",
          "RP55",
          "retinitis pigmentosa 55",
          "retinitis pigmentosa caused by mutation in ARL6",
          "retinitis pigmentosa type 55"
        ],
        "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 retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013312"
    },
    {
      "id": 14804,
      "label": "cone-rod dystrophy 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        19070,
        20852,
        24747
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111022",
          "GARD:0015812",
          "MEDGEN:482675",
          "OMIM:614500",
          "UMLS:C3281045"
        ],
        "synonyms": [
          "C8orf37 cone-rod dystrophy",
          "CORD16",
          "cone-rod dystrophy 16",
          "cone-rod dystrophy caused by mutation in C8orf37",
          "cone-rod dystrophy type 16",
          "retinal dystrophy with early macular involvement",
          "retinitis pigmentosa 64"
        ],
        "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 cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013786"
    },
    {
      "id": 15687,
      "label": "retinitis pigmentosa 74",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        20852,
        29278
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110401",
          "GARD:0016138",
          "MEDGEN:906896",
          "OMIM:616562",
          "UMLS:C4225281"
        ],
        "synonyms": [
          "BBS2 retinitis pigmentosa",
          "RP74",
          "retinitis pigmentosa 74",
          "retinitis pigmentosa caused by mutation in BBS2",
          "retinitis pigmentosa type 74"
        ],
        "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 retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014692"
    },
    {
      "id": 23589,
      "label": "retinitis pigmentosa 80",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        20852,
        24234
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061111",
          "GARD:0016252",
          "MEDGEN:1619674",
          "OMIM:617781",
          "UMLS:C4540439"
        ],
        "synonyms": [
          "RETINITIS pigmentosa 80",
          "RP80"
        ],
        "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": 0,
      "reference_id": "MONDO:0054708"
    },
    {
      "id": 23719,
      "label": "Leber congenital amaurosis with early-onset deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        20852,
        29300
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060650"
    },
    {
      "id": 24951,
      "label": "retinitis pigmentosa 64",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        20852,
        24747
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026521",
          "MEDGEN:482676",
          "UMLS:C3281046"
        ],
        "synonyms": [
          "RP64"
        ],
        "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": 0,
      "reference_id": "MONDO:0800359"
    }
  ],
  "roots": [
    {
      "id": 6979,
      "label": "retinal disorder"
    },
    {
      "id": 7000,
      "label": "ciliopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}