{
  "id": 9518,
  "label": "patterned macular dystrophy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008210",
  "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."
  },
  "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"
    },
    {
      "id": 29285,
      "label": "PRPH2-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027257"
        ],
        "synonyms": [
          "PRPH2-related 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 a variant or variants in the PRPH2 gene."
      },
      "child_count": 7,
      "reference_id": "MONDO:1040055"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19841,
      "label": "patterned macular dystrophy"
    },
    {
      "id": 29285,
      "label": "PRPH2-related retinopathy"
    }
  ]
}