{
  "id": 22223,
  "label": "macular dystrophy, retinal",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0031166",
  "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"
      }
    ]
  },
  "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": 8995,
      "label": "North Carolina macular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070439",
          "GARD:0009179",
          "MEDGEN:147590",
          "MESH:C537835",
          "OMIM:136550",
          "Orphanet:75327",
          "SCTID:312925009",
          "UMLS:C0730294",
          "icd11.foundation:1931008217"
        ],
        "synonyms": [
          "CAPE dystrophy",
          "CAPED",
          "MCDR1",
          "NCMD",
          "North Carolina macular dystrophy",
          "North Carolina macular dystrophy, retinal 1",
          "caped",
          "central areolar pigment epithelial dystrophy",
          "central retinal pigment epithelial dystrophy",
          "macular dystrophy 1, North Carolina type",
          "progressive foveal dystrophy",
          "foveal dystrophy progressive",
          "foveal dystrophy, progressive",
          "foveal dystrophy, progressive, formerly",
          "macular dystrophy retinal 1 North Carolina type",
          "macular dystrophy, retinal, 1, NORTH Carolina type",
          "retinal pigment epithelial dystrophy central",
          "retinal pigment epithelial dystrophy, central"
        ],
        "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": "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007630"
    },
    {
      "id": 13029,
      "label": "retinal macular dystrophy type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22223,
        29283
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011957"
    },
    {
      "id": 13204,
      "label": "macular dystrophy, retinal, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070440",
          "GARD:0024847",
          "MEDGEN:854716",
          "OMIM:608850",
          "UMLS:C3888009"
        ],
        "synonyms": [
          "macular dystrophy, retinal, 3",
          "macular dystrophy, retinal, type 3",
          "MCDR3",
          "Mcdr3"
        ],
        "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": 0,
      "reference_id": "MONDO:0012139"
    },
    {
      "id": 24754,
      "label": "macular dystrophy, retinal, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22223,
        24748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028036",
          "MEDGEN:1840630",
          "UMLS:C5829994"
        ],
        "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": 0,
      "reference_id": "MONDO:0700381"
    },
    {
      "id": 25536,
      "label": "macular dystrophy, retinal, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070441",
          "GARD:0026744",
          "MEDGEN:1823960",
          "OMIM:619977",
          "UMLS:C5774187"
        ],
        "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": 0,
      "reference_id": "MONDO:0859568"
    }
  ],
  "roots": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}