{
  "id": 13029,
  "label": "retinal macular dystrophy type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011957",
  "properties": {
    "xrefs": [
      "DOID:0070517",
      "GARD:0017467",
      "MEDGEN:1666864",
      "MESH:C562746",
      "OMIM:608051",
      "Orphanet:319640",
      "UMLS:C4749334"
    ],
    "synonyms": [
      "MCDR2",
      "macular dystrophy, retinal, type 2",
      "macular dystrophy, retinal, 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": "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 22223,
      "label": "macular dystrophy, retinal",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070438",
          "GARD:0025694",
          "OMIMPS:136550"
        ],
        "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:0031166"
    },
    {
      "id": 29283,
      "label": "PROM1-related dominant retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        29286
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027255"
        ],
        "synonyms": [
          "PROM1-related dominant 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 an autosomal dominant variant in the PROM1 gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:1040053"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 22223,
      "label": "macular dystrophy, retinal"
    },
    {
      "id": 29283,
      "label": "PROM1-related dominant retinopathy"
    }
  ]
}