{
  "id": 16636,
  "label": "cone-rod dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015993",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 28,
  "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": 8755,
      "label": "cone-rod dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        19070,
        29288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111005",
          "GARD:0006145",
          "ICD9:362.75",
          "MEDGEN:483485",
          "NCIT:C162399",
          "OMIM:120970",
          "SCTID:80328002",
          "UMLS:C3489532"
        ],
        "synonyms": [
          "CORD2",
          "CRD2",
          "CRX cone-rod dystrophy",
          "RCRD2",
          "cone-rod dystrophy 2",
          "cone-rod dystrophy caused by mutation in CRX",
          "cone-rod dystrophy type 2",
          "cone-rod retinal dystrophy-2",
          "cone-rod dystrophy",
          "cone-rod retinal dystrophy",
          "retinal 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": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007362"
    },
    {
      "id": 11603,
      "label": "macular degeneration, X-linked atrophic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24164
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112157",
          "GARD:0015268",
          "MEDGEN:463134",
          "OMIM:300834",
          "UMLS:C3151784"
        ],
        "synonyms": [
          "macular degeneration, X-linked atrophic",
          "macular degeneration, X-linked atrophic, X-linked recessive"
        ],
        "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:0010443"
    },
    {
      "id": 12038,
      "label": "cone-rod dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111009",
          "GARD:0010651",
          "MEDGEN:371596",
          "MESH:C563469",
          "OMIM:600624",
          "UMLS:C1833564"
        ],
        "synonyms": [
          "CORD1",
          "CRD1",
          "cone-rod dystrophy 1",
          "cone-rod dystrophy type 1",
          "cone-rod retinal dystrophy-1",
          "Crd1"
        ],
        "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:0010905"
    },
    {
      "id": 12098,
      "label": "cone-rod dystrophy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111010",
          "GARD:0010655",
          "MEDGEN:322083",
          "MESH:C563415",
          "OMIM:600977",
          "UMLS:C1832976"
        ],
        "synonyms": [
          "CORD5",
          "PITPNM3 cone-rod dystrophy",
          "cone-rod dystrophy 5",
          "cone-rod dystrophy caused by mutation in PITPNM3",
          "cone-rod dystrophy type 5"
        ],
        "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 PITPNM3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010969"
    },
    {
      "id": 12265,
      "label": "cone-rod dystrophy 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111011",
          "GARD:0010656",
          "MEDGEN:400963",
          "MESH:C538363",
          "OMIM:601777",
          "UMLS:C1866293"
        ],
        "synonyms": [
          "CORD6",
          "GUCY2D cone-rod dystrophy",
          "RCD2",
          "cone-rod dystrophy 6",
          "cone-rod dystrophy caused by mutation in GUCY2D",
          "cone-rod dystrophy type 6",
          "retinal cone dystrophy 2"
        ],
        "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 GUCY2D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011143"
    },
    {
      "id": 12315,
      "label": "cone dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2917,
        16636,
        24749
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080314",
          "GARD:0015342",
          "MEDGEN:356104",
          "OMIM:602093",
          "UMLS:C1865869"
        ],
        "synonyms": [
          "GUCA1A cone dystrophy",
          "cone dystrophy 3",
          "cone dystrophy caused by mutation in GUCA1A",
          "cone dystrophy type 3",
          "cone dystrophy-3",
          "COD3",
          "cone-rod dystrophy 14",
          "retinal cone 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": "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011193"
    },
    {
      "id": 12465,
      "label": "cone-rod dystrophy 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111012",
          "GARD:0015356",
          "MEDGEN:355026",
          "MESH:C566350",
          "OMIM:603649",
          "UMLS:C1863634"
        ],
        "synonyms": [
          "CORD7",
          "cone-rod dystrophy 7",
          "cone-rod dystrophy type 7"
        ],
        "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:0011355"
    },
    {
      "id": 12500,
      "label": "cone-rod dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111013",
          "GARD:0010653",
          "MEDGEN:349030",
          "MESH:C565827",
          "OMIM:604116",
          "UMLS:C1858806"
        ],
        "synonyms": [
          "ABCA4 cone-rod dystrophy",
          "CORD3",
          "cone-rod dystrophy 3",
          "cone-rod dystrophy caused by mutation in ABCA4",
          "cone-rod dystrophy type 3"
        ],
        "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 ABCA4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011395"
    },
    {
      "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"
    },
    {
      "id": 12660,
      "label": "cone-rod dystrophy 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111014",
          "GARD:0015381",
          "MEDGEN:381360",
          "MESH:C565322",
          "OMIM:605549",
          "UMLS:C1854180"
        ],
        "synonyms": [
          "CORD8",
          "cone-rod dystrophy 8",
          "cone-rod dystrophy type 8"
        ],
        "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 cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011564"
    },
    {
      "id": 12920,
      "label": "Newfoundland cone-rod dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111015",
          "GARD:0024826",
          "MEDGEN:334840",
          "MESH:C564391",
          "OMIM:607476",
          "UMLS:C1843815"
        ],
        "synonyms": [
          "NFRCD",
          "RLBP1 cone-rod dystrophy",
          "cone-rod dystrophy caused by mutation in RLBP1",
          "Newfoundland ROD-cone 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": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011839"
    },
    {
      "id": 13058,
      "label": "cone-rod dystrophy 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111016",
          "GARD:0015426",
          "MEDGEN:413025",
          "MESH:C567698",
          "OMIM:608194",
          "UMLS:C2750720"
        ],
        "synonyms": [
          "CORD13",
          "RPGRIP1 cone-rod dystrophy",
          "cone-rod dystrophy 13",
          "cone-rod dystrophy caused by mutation in RPGRIP1",
          "cone-rod dystrophy type 13"
        ],
        "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 RPGRIP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011987"
    },
    {
      "id": 13513,
      "label": "cone-rod dystrophy 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111017",
          "GARD:0015477",
          "MEDGEN:337598",
          "MESH:C564597",
          "OMIM:610283",
          "UMLS:C1846529"
        ],
        "synonyms": [
          "CORD10",
          "SEMA4A cone-rod dystrophy",
          "cone-rod dystrophy 10",
          "cone-rod dystrophy caused by mutation in SEMA4A",
          "cone-rod dystrophy 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 cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012464"
    },
    {
      "id": 13532,
      "label": "cone-rod dystrophy 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111018",
          "GARD:0015484",
          "MEDGEN:322767",
          "MESH:C563671",
          "OMIM:610381",
          "UMLS:C1835865"
        ],
        "synonyms": [
          "CORD11",
          "RAX2 cone-rod dystrophy",
          "cone-rod dystrophy 11",
          "cone-rod dystrophy caused by mutation in RAX2",
          "cone-rod dystrophy type 11"
        ],
        "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 RAX2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012483"
    },
    {
      "id": 13555,
      "label": "retinal cone dystrophy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2917,
        16636,
        24639
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081023",
          "GARD:0010650",
          "MEDGEN:355308",
          "MESH:C566470",
          "OMIM:610478",
          "UMLS:C1864849"
        ],
        "synonyms": [
          "CACNA2D4 cone dystrophy",
          "cone dystrophy caused by mutation in CACNA2D4",
          "retinal cone dystrophy 4",
          "retinal cone dystrophy type 4",
          "RCD4"
        ],
        "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 dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012507"
    },
    {
      "id": 14023,
      "label": "cone-rod dystrophy 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        29286
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111019",
          "GARD:0015577",
          "MEDGEN:393334",
          "MESH:C567206",
          "OMIM:612657",
          "UMLS:C2675210"
        ],
        "synonyms": [
          "CORD12",
          "PROM1 cone-rod dystrophy",
          "cone-rod dystrophy 12",
          "cone-rod dystrophy caused by mutation in PROM1",
          "cone-rod dystrophy type 12"
        ],
        "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 PROM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012983"
    },
    {
      "id": 14041,
      "label": "cone-rod dystrophy 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24987
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111020",
          "GARD:0015582",
          "MEDGEN:244692",
          "OMIM:612775",
          "UMLS:C1423873"
        ],
        "synonyms": [
          "ADAM9 cone-rod dystrophy",
          "CORD9",
          "cone-rod dystrophy 9",
          "cone-rod dystrophy caused by mutation in ADAM9",
          "cone-rod dystrophy type 9"
        ],
        "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 ADAM9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013002"
    },
    {
      "id": 14381,
      "label": "cone-rod dystrophy 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        19070,
        24748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111021",
          "GARD:0015686",
          "MEDGEN:462262",
          "OMIM:613660",
          "UMLS:C3150912"
        ],
        "synonyms": [
          "CDHR1 cone-rod dystrophy",
          "CORD15",
          "cone-rod dystrophy 15",
          "cone-rod dystrophy caused by mutation in CDHR1",
          "cone-rod dystrophy type 15",
          "retinitis pigmentosa 65"
        ],
        "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 CDHR1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013348"
    },
    {
      "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": 15077,
      "label": "cone-rod dystrophy 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111023",
          "GARD:0015914",
          "MEDGEN:767524",
          "OMIM:615163",
          "UMLS:C3554610"
        ],
        "synonyms": [
          "CORD17",
          "cone-rod dystrophy 17",
          "cone-rod dystrophy type 17"
        ],
        "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 cone-rod dystrophy that has material basis in variation in the chromosome region 10q26."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014068"
    },
    {
      "id": 15160,
      "label": "cone-rod dystrophy 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24175
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111024",
          "GARD:0015953",
          "MEDGEN:815629",
          "OMIM:615374",
          "UMLS:C3809299"
        ],
        "synonyms": [
          "CORD18",
          "RAB28 cone-rod dystrophy",
          "cone-rod dystrophy 18",
          "cone-rod dystrophy caused by mutation in RAB28",
          "cone-rod dystrophy type 18"
        ],
        "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 RAB28 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014153"
    },
    {
      "id": 15374,
      "label": "cone-rod dystrophy 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        29268
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111025",
          "GARD:0016022",
          "MEDGEN:862938",
          "OMIM:615860",
          "UMLS:C4014501"
        ],
        "synonyms": [
          "CORD19",
          "TTLL5 cone-rod dystrophy",
          "cone-rod dystrophy 19",
          "cone-rod dystrophy caused by mutation in TTLL5",
          "cone-rod dystrophy type 19"
        ],
        "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 TTLL5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014372"
    },
    {
      "id": 15427,
      "label": "cone-rod dystrophy 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111026",
          "GARD:0016036",
          "MEDGEN:863293",
          "OMIM:615973",
          "UMLS:C4014856"
        ],
        "synonyms": [
          "CORD20",
          "POC1B cone-rod dystrophy",
          "cone-rod dystrophy 20",
          "cone-rod dystrophy caused by mutation in POC1B",
          "cone-rod dystrophy type 20"
        ],
        "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 POC1B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014427"
    },
    {
      "id": 15664,
      "label": "cone-rod dystrophy 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081447",
          "GARD:0016125",
          "MEDGEN:891534",
          "OMIM:616502",
          "UMLS:C4049066"
        ],
        "synonyms": [
          "DRAM2 cone-rod dystrophy",
          "cone-rod dystrophy 21",
          "cone-rod dystrophy caused by mutation in DRAM2",
          "cone-rod dystrophy type 21",
          "CORD21",
          "retinal dystrophy with early macular involvement"
        ],
        "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 DRAM2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014669"
    },
    {
      "id": 20388,
      "label": "X-linked cone-rod dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025295"
        ],
        "synonyms": [
          "cone-rod dystrophy, X-linked"
        ],
        "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": "X-linked form of cone-rod dystrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0021155"
    },
    {
      "id": 21920,
      "label": "cone-rod dystrophy 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081448",
          "GARD:0025562",
          "MEDGEN:1794199",
          "OMIM:619531",
          "UMLS:C5561989"
        ],
        "synonyms": [
          "CORD22"
        ],
        "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:0030440"
    },
    {
      "id": 24926,
      "label": "cone-rod dystrophy 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24749
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026503"
        ],
        "synonyms": [
          "CORD14"
        ],
        "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:0800326"
    },
    {
      "id": 25619,
      "label": "cone-rod dystrophy 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081449",
          "GARD:0026794",
          "MEDGEN:1841082",
          "OMIM:620342",
          "UMLS:C5830446"
        ],
        "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:0957240"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}