{
  "id": 8995,
  "label": "North Carolina macular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007630",
  "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."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 22223,
      "label": "macular dystrophy, retinal"
    }
  ]
}