{
  "id": 10240,
  "label": "central areolar choroidal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008982",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4072,
      "label": "optic choroid disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4712,
        7202
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1417",
          "ICD9:363.8",
          "ICD9:363.9",
          "MEDGEN:892839",
          "MESH:D015862",
          "NCIT:C34468",
          "SCTID:128468007",
          "UMLS:C4025836"
        ],
        "synonyms": [
          "choroid disorder",
          "disease of optic choroid",
          "disease or disorder of optic choroid",
          "disorder of optic choroid",
          "optic choroid disease",
          "optic choroid disease or disorder",
          "choroid disease"
        ],
        "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 disease involving the optic choroid."
      },
      "child_count": 14,
      "reference_id": "MONDO:0001898"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 6643,
      "label": "total central choroidal atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10240,
        11711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9820",
          "GARD:0024129",
          "MEDGEN:509706",
          "SCTID:392049002",
          "UMLS:C0154898"
        ],
        "synonyms": [
          "total central choroidal atrophy",
          "central gyrate choroidal dystrophy",
          "helicoid choroid dystrophy",
          "total central choroid atrophy",
          "total central dystrophy of choroid"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0004889"
    },
    {
      "id": 6644,
      "label": "partial central choroid dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10240
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9822",
          "GARD:0024130",
          "ICD9:363.53",
          "MEDGEN:573145",
          "NANDO:1200939",
          "SCTID:193468002",
          "UMLS:C0339427"
        ],
        "synonyms": [
          "circinate choroidal dystrophy",
          "partial central dystrophy of choroid"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0004890"
    },
    {
      "id": 14174,
      "label": "choroidal dystrophy, central areolar 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10240,
        23165,
        29285
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013137"
    },
    {
      "id": 14187,
      "label": "choroidal dystrophy, central areolar, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10240
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015623",
          "MEDGEN:442631",
          "MESH:C567729",
          "OMIM:613144",
          "UMLS:C2751055"
        ],
        "synonyms": [
          "CACD3",
          "choroidal dystrophy, central areolar, 3",
          "choroidal dystrophy, central areolar, with or without drusen"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013151"
    },
    {
      "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": 4072,
      "label": "optic choroid disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}