{
  "id": 13225,
  "label": "patterned macular dystrophy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012162",
  "properties": {
    "xrefs": [
      "DOID:0060864",
      "GARD:0018238",
      "MEDGEN:332348",
      "OMIM:608970",
      "UMLS:C1837029"
    ],
    "synonyms": [
      "CTNNA1 patterned macular dystrophy",
      "MDPT2",
      "macular dystrophy, patterned, type 2",
      "patterned macular dystrophy caused by mutation in CTNNA1",
      "patterned macular dystrophy type 2",
      "macular dystrophy, butterfly-Shaped pigmentary, 2",
      "macular dystrophy, patterned, 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": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19841,
      "label": "patterned macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        18892
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060863",
          "GARD:0025158",
          "OMIMPS:169150"
        ],
        "synonyms": [
          "macular dystrophy, patterned"
        ],
        "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 macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped."
      },
      "child_count": 6,
      "reference_id": "MONDO:0020381"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19841,
      "label": "patterned macular dystrophy"
    }
  ]
}