{
  "id": 19841,
  "label": "patterned macular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020381",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5003,
      "label": "macular degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4448",
          "EFO:0009606",
          "MEDGEN:7434",
          "MESH:D008268",
          "NCIT:C123330",
          "SCTID:422338006",
          "UMLS:C0024437"
        ],
        "synonyms": [
          "macula lutea retinal degeneration",
          "macula retinal degeneration",
          "retinal degeneration of macula lutea"
        ],
        "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": "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."
      },
      "child_count": 9,
      "reference_id": "MONDO:0003004"
    },
    {
      "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": [
    {
      "id": 9518,
      "label": "patterned macular dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19841,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060866",
          "GARD:0018237",
          "MEDGEN:1646806",
          "OMIM:169150",
          "UMLS:C4551999"
        ],
        "synonyms": [
          "MDPT1",
          "PRPH2 patterned macular dystrophy",
          "macular dystrophy, butterfly-shaped pigmentary",
          "macular dystrophy, patterned, type 1",
          "patterned macular dystrophy caused by mutation in PRPH2",
          "patterned macular dystrophy type 1",
          "butterfly dystrophy of retinal pigment epithelium",
          "butterfly-shaped pigment dystrophy of the fovea",
          "macular dystrophy, butterfly-Shaped pigmentary",
          "macular dystrophy, patterned, 1",
          "patterned dystrophy of retinal pigment epithelium"
        ],
        "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 PRPH2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008210"
    },
    {
      "id": 13225,
      "label": "patterned macular dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19841
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012162"
    },
    {
      "id": 15899,
      "label": "patterned macular dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19841
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014920"
    }
  ],
  "roots": [
    {
      "id": 5003,
      "label": "macular degeneration"
    },
    {
      "id": 18892,
      "label": "patterned dystrophy of the retinal pigment epithelium"
    }
  ]
}