{
  "id": 24192,
  "label": "butterfly-shaped pigment dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100466",
  "properties": {
    "xrefs": [
      "GARD:0016890",
      "MEDGEN:1381271",
      "Orphanet:99001",
      "SCTID:725590001",
      "UMLS:C4511237",
      "icd11.foundation:1639469808"
    ],
    "synonyms": [
      "butterfly-shaped pattern dystrophy",
      "butterfly-shaped pigment dystrophy",
      "butterfly-shaped pigmentary macular dystrophy"
    ],
    "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 patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18892,
      "label": "patterned dystrophy of the retinal pigment epithelium",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009821",
          "MEDGEN:357005",
          "MESH:C536309",
          "Orphanet:63454",
          "UMLS:C1868569"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0018973"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18892,
      "label": "patterned dystrophy of the retinal pigment epithelium"
    }
  ]
}