{
  "id": 8378,
  "label": "retinal drusen",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006949",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4301,
      "label": "degeneration of macula and posterior pole",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2007",
          "ICD10CM:H35.3",
          "ICD9:362.5",
          "MEDGEN:573150",
          "SCTID:267611002",
          "UMLS:C0339436"
        ],
        "synonyms": [
          "degeneration of macula and posterior pole of retina"
        ],
        "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": 6,
      "reference_id": "MONDO:0002175"
    }
  ],
  "children": [
    {
      "id": 8858,
      "label": "Doyne honeycomb retinal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8378,
        16936
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007471"
    },
    {
      "id": 8859,
      "label": "basal laminar drusen",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3860,
        8378
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060746",
          "GARD:0015060",
          "MEDGEN:152676",
          "MESH:C563034",
          "OMIM:126700",
          "UMLS:C0730295"
        ],
        "synonyms": [
          "basal laminar drusen",
          "drusen of Bruch membrane",
          "drusen, cuticular",
          "drusen, early adult-onset, grouped"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007472"
    },
    {
      "id": 29371,
      "label": "reticular pseudodrusen",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8378
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "SCTID:762533006"
        ],
        "synonyms": [
          "RPD",
          "SDD",
          "subretinal drusenoid deposit"
        ],
        "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 retinal drusen characterized by subretinal deposits located internal to the retinal pigment epithelium, composed of material aggregations in the subretinal space between photoreceptors and the retinal pigment epithelium. These deposits have a bluish-white appearance by biomicroscopy and appear as hyperreflective lesions above the retinal pigment epithelium on optical coherence tomography."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060213"
    }
  ],
  "roots": [
    {
      "id": 4301,
      "label": "degeneration of macula and posterior pole"
    }
  ]
}