{
  "id": 21485,
  "label": "choroidal dystrophy, central areolar, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024539",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10240,
      "label": "central areolar choroidal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4072,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010049",
          "ICD10CM:H31.22",
          "ICD9:363.54",
          "MEDGEN:283932",
          "NANDO:1200939",
          "OMIMPS:215500",
          "Orphanet:75377",
          "SCTID:231996009",
          "SCTID:312918002",
          "UMLS:C1536451",
          "icd11.foundation:2018537024"
        ],
        "synonyms": [
          "CACD",
          "areolar atrophy of the macula",
          "central areolar choroidal sclerosis",
          "choroidal dystrophy",
          "CACD1",
          "choroidal dystrophy central areolar",
          "choroidal dystrophy, central areolar, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity."
      },
      "child_count": 10,
      "reference_id": "MONDO:0008982"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:857738",
          "NCIT:C117007",
          "UMLS:C3898144"
        ],
        "synonyms": [
          "disease of nervous system vasculature",
          "nervous system disorder of vasculature",
          "neurovascular disorder",
          "vasculature nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the nervous system related to a vascular etiology."
      },
      "child_count": 58,
      "reference_id": "MONDO:0043218"
    },
    {
      "id": 24168,
      "label": "GUCY2D-related dominant retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        24181
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100441"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10240,
      "label": "central areolar choroidal dystrophy"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder"
    },
    {
      "id": 24168,
      "label": "GUCY2D-related dominant retinopathy"
    }
  ]
}