{
  "id": 14166,
  "label": "cone dystrophy 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013129",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 29258,
      "label": "PDE6C-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027235"
        ],
        "synonyms": [
          "PDE6C-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 PDE6C gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:1040028"
    }
  ],
  "children": [
    {
      "id": 24879,
      "label": "achromatopsia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14166
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026475",
          "MEDGEN:416519",
          "UMLS:C2751309"
        ],
        "synonyms": [
          "ACHM5"
        ],
        "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:0800196"
    }
  ],
  "roots": [
    {
      "id": 2917,
      "label": "cone dystrophy"
    },
    {
      "id": 29258,
      "label": "PDE6C-related retinopathy"
    }
  ]
}