{
  "id": 14174,
  "label": "choroidal dystrophy, central areolar 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013137",
  "properties": {
    "xrefs": [
      "GARD:0015615",
      "MEDGEN:442696",
      "MESH:C567750",
      "OMIM:613105",
      "UMLS:C2751290"
    ],
    "synonyms": [
      "PRPH2 central areolar choroidal dystrophy",
      "central areolar choroidal dystrophy caused by mutation in PRPH2",
      "choroidal dystrophy, central areolar 2",
      "choroidal dystrophy, central areolar type 2",
      "CACD2",
      "macular dystrophy, progressive"
    ],
    "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 PRPH2 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": 29285,
      "label": "PRPH2-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027257"
        ],
        "synonyms": [
          "PRPH2-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 a variant or variants in the PRPH2 gene."
      },
      "child_count": 7,
      "reference_id": "MONDO:1040055"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10240,
      "label": "central areolar choroidal dystrophy"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder"
    },
    {
      "id": 29285,
      "label": "PRPH2-related retinopathy"
    }
  ]
}