{
  "id": 18892,
  "label": "patterned dystrophy of the retinal pigment epithelium",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018973",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025154",
          "MEDGEN:137919",
          "NANDO:1200931",
          "NCIT:C140264",
          "Orphanet:98664",
          "SCTID:276436007",
          "UMLS:C0339508"
        ],
        "synonyms": [
          "genetic macular dystrophy",
          "genetic macular dystrophy (disease)"
        ],
        "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": "Macular dystrophy that is related to a change in a gene."
      },
      "child_count": 17,
      "reference_id": "MONDO:0020242"
    }
  ],
  "children": [
    {
      "id": 11179,
      "label": "reticular dystrophy of the retinal pigment epithelium",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18892
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016891",
          "MEDGEN:356753",
          "MESH:C564844",
          "MESH:C566721",
          "OMIM:179840",
          "Orphanet:99002",
          "SCTID:723502001",
          "UMLS:C1867332",
          "icd11.foundation:878593681"
        ],
        "synonyms": [
          "reticular dystrophy of retinal pigment epithelium",
          "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE"
        ],
        "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": "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris."
      },
      "child_count": 1,
      "reference_id": "MONDO:0009979"
    },
    {
      "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": 19842,
      "label": "multifocal pattern dystrophy simulating fundus flavimaculatus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18892
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019612",
          "MEDGEN:1376850",
          "Orphanet:99003",
          "SCTID:723408004",
          "UMLS:C4509881",
          "icd11.foundation:1819044742"
        ],
        "synonyms": [
          "multifocal pattern dystrophy simulating Stargardt disease"
        ],
        "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": "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020382"
    },
    {
      "id": 19843,
      "label": "fundus pulverulentus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18892
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019613",
          "MEDGEN:1669231",
          "Orphanet:99004",
          "UMLS:C4749286",
          "icd11.foundation:871251875"
        ],
        "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": "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020383"
    },
    {
      "id": 24192,
      "label": "butterfly-shaped pigment dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18892
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100466"
    }
  ],
  "roots": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}