{
  "id": 9264,
  "label": "benign concentric annular macular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007934",
  "properties": {
    "xrefs": [
      "DOID:0061106",
      "GARD:0009887",
      "MEDGEN:1794135",
      "MESH:C537833",
      "OMIM:153870",
      "Orphanet:251287",
      "SCTID:719520001",
      "UMLS:C5561925",
      "icd11.foundation:1839503243"
    ],
    "synonyms": [
      "retinitis pigmentosa 91",
      "Mcdca",
      "macular dystrophy, benign concentric annular",
      "macular dystrophy, concentric annular",
      "maculopathy, bull's eye"
    ],
    "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": "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025154",
          "MEDGEN:137919",
          "NANDO:1200931",
          "NCIT:C140264",
          "Orphanet:98664",
          "SCTID:276436007",
          "UMLS:C0339508"
        ],
        "synonyms": [
          "genetic macular dystrophy",
          "genetic macular dystrophy (disease)"
        ],
        "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": "Macular dystrophy that is related to a change in a gene."
      },
      "child_count": 17,
      "reference_id": "MONDO:0020242"
    },
    {
      "id": 29266,
      "label": "IMPG1-related dominant retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027239"
        ],
        "synonyms": [
          "IMPG1-related dominant 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 an autosomal dominant variant in the IMPG1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1040036"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    },
    {
      "id": 29266,
      "label": "IMPG1-related dominant retinopathy"
    }
  ]
}