{
  "id": 8858,
  "label": "Doyne honeycomb retinal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007471",
  "properties": {
    "xrefs": [
      "DOID:0060745",
      "GARD:0001912",
      "MEDGEN:321900",
      "OMIM:126600",
      "Orphanet:75376",
      "SCTID:193411004",
      "UMLS:C1832174"
    ],
    "synonyms": [
      "DHRD",
      "Doyne honeycomb degeneration of retina",
      "Doyne honeycomb retinal dystrophy",
      "Malattia leventinese",
      "dominant drusen",
      "dominant radial drusen",
      "DHD",
      "drusen, radial, autosomal dominant",
      "familial drusen"
    ],
    "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": "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8378,
      "label": "retinal drusen",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2569",
          "EFO:1001155",
          "ICD9:362.57",
          "MEDGEN:20549",
          "MESH:D015593",
          "MedDRA:10062776",
          "SCTID:247153005",
          "UMLS:C0035312"
        ],
        "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": "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium."
      },
      "child_count": 3,
      "reference_id": "MONDO:0006949"
    },
    {
      "id": 16936,
      "label": "familial flecked retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:227786",
          "icd11.foundation:979898273"
        ],
        "synonyms": [
          "hereditary flecked 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"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016420"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8378,
      "label": "retinal drusen"
    },
    {
      "id": 16936,
      "label": "familial flecked retinopathy"
    }
  ]
}