{
  "id": 2917,
  "label": "cone dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000455",
  "properties": {
    "xrefs": [
      "DOID:0050795",
      "GARD:0011897",
      "ICD9:362.75",
      "MEDGEN:676499",
      "MESH:D000077765",
      "NANDO:1200936",
      "NORD:991",
      "Orphanet:1871",
      "SCTID:312917007",
      "UMLS:C0730290"
    ],
    "synonyms": [
      "cone dystrophy",
      "progressive cone dystrophy",
      "stationary cone dystrophy",
      "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": "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025154",
          "MEDGEN:137919",
          "NANDO:1200931",
          "NCIT:C140264",
          "Orphanet:98664",
          "SCTID:276436007",
          "UMLS:C0339508"
        ],
        "synonyms": [
          "genetic macular dystrophy",
          "genetic macular dystrophy (disease)"
        ],
        "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": "Macular dystrophy that is related to a change in a gene."
      },
      "child_count": 17,
      "reference_id": "MONDO:0020242"
    }
  ],
  "children": [
    {
      "id": 9673,
      "label": "retinal cone dystrophy type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2917
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081024",
          "GARD:0003196",
          "MEDGEN:356747",
          "MESH:C566719",
          "OMIM:180020",
          "UMLS:C1867326"
        ],
        "synonyms": [
          "retinal cone dystrophy-1",
          "RCD1",
          "cone dystrophy autosomal dominant",
          "cone dystrophy, autosomal dominant",
          "retinal cone Degeneration",
          "retinal cone dystrophy 1"
        ],
        "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:0008374"
    },
    {
      "id": 11721,
      "label": "cone dystrophy, X-linked, with tapetal-like sheen",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        2917
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010119",
          "MEDGEN:336776",
          "MESH:C535975",
          "OMIM:304030",
          "UMLS:C1844775"
        ],
        "synonyms": [
          "cone dystrophy, X-linked, with tapetal-like sheen",
          "X-linked recessive cone dystrophy with tapetal-like sheen",
          "cone dystrophy X-linked with tapetal-like sheen"
        ],
        "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:0010567"
    },
    {
      "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": 13524,
      "label": "cone dystrophy with supernormal rod response",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2917,
        29287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081022",
          "GARD:0010649",
          "MEDGEN:332081",
          "MESH:C563678",
          "OMIM:610356",
          "Orphanet:209932",
          "SCTID:719455002",
          "UMLS:C1835897",
          "icd11.foundation:545671557"
        ],
        "synonyms": [
          "cone dystrophy with supernormal rod ERG",
          "cone dystrophy with supernormal rod electroretinogram",
          "cone dystrophy with supernormal rod response",
          "cone dystrophy with supernormal scotopic electroretinogram",
          "retinal cone dystrophy type 3B",
          "RCD3B",
          "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related",
          "cone dystrophy with night blindness and supernormal rod responses KCNV2 related",
          "cone dystrophy with supernormal Rod responses",
          "retinal cone dystrophy 3B"
        ],
        "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": "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012475"
    },
    {
      "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": 14166,
      "label": "cone dystrophy 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2917,
        29258
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016449",
          "MEDGEN:416518",
          "MESH:C567758",
          "NCIT:C164226",
          "OMIM:613093",
          "UMLS:C2751308"
        ],
        "synonyms": [
          "PDE6C cone dystrophy",
          "cone dystrophy 4",
          "cone dystrophy caused by mutation in PDE6C",
          "cone dystrophy type 4",
          "COD4",
          "achromatopsia 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 dystrophy in which the cause of the disease is a mutation in the PDE6C gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0013129"
    }
  ],
  "roots": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}