{
  "id": 13555,
  "label": "retinal cone dystrophy 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012507",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2917,
      "label": "cone dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000455"
    },
    {
      "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": 24639,
      "label": "CACNA2D4-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026393"
        ],
        "synonyms": [
          "CACNA2D4-related 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 retinopathy caused by variants in the CACNA2D4 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700244"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2917,
      "label": "cone dystrophy"
    },
    {
      "id": 16636,
      "label": "cone-rod dystrophy"
    },
    {
      "id": 24639,
      "label": "CACNA2D4-related retinopathy"
    }
  ]
}