{
  "id": 24168,
  "label": "GUCY2D-related dominant retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100441",
  "properties": {
    "xrefs": [
      "GARD:0026216"
    ],
    "synonyms": [
      "dominant GUCY2D retinopathy",
      "CACD1",
      "CORD6",
      "GUCY2D central areolar choroidal dystrophy",
      "GUCY2D cone-rod dystrophy",
      "RCD2",
      "central areolar choroidal dystrophy caused by mutation in GUCY2D",
      "choroidal dystrophy, central areolar",
      "choroidal dystrophy, central areolar, 1",
      "choroidal sclerosis",
      "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": "A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 24181,
      "label": "GUCY2D retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026228"
        ],
        "synonyms": [
          "retinopathy caused by mutation in GUCY2D"
        ],
        "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 inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100454"
    }
  ],
  "children": [
    {
      "id": 21485,
      "label": "choroidal dystrophy, central areolar, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10240,
        23165,
        24168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025420",
          "MEDGEN:1639900",
          "OMIM:215500",
          "UMLS:C4551884"
        ],
        "synonyms": [
          "GUCY2D central areolar choroidal dystrophy",
          "central areolar choroidal dystrophy caused by mutation in GUCY2D",
          "choroidal dystrophy, central areolar 1",
          "choroidal dystrophy, central areolar, 1",
          "CACD1",
          "choroidal dystrophy, central areolar",
          "choroidal sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024539"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 24181,
      "label": "GUCY2D retinopathy"
    }
  ]
}