{
  "id": 15899,
  "label": "patterned macular dystrophy 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014920",
  "properties": {
    "xrefs": [
      "DOID:0060865",
      "GARD:0017826",
      "MEDGEN:934680",
      "OMIM:617111",
      "Orphanet:466718",
      "UMLS:C4310713"
    ],
    "synonyms": [
      "MAPKAPK3 patterned macular dystrophy",
      "MCRPE",
      "MDPT3",
      "Martinique crinkled retinal pigment epitheliopathy",
      "macular dystrophy, patterned, 3",
      "macular dystrophy, patterned, type 3",
      "patterned macular dystrophy caused by mutation in MAPKAPK3",
      "patterned macular dystrophy type 3"
    ],
    "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 MAPKAPK3 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"
    }
  ]
}