{
  "id": 16936,
  "label": "familial flecked retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016420",
  "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"
      }
    ]
  },
  "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": 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": 9003,
      "label": "fundus albipunctatus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16936,
        24170,
        24171,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11105",
          "GARD:0013809",
          "ICD9:362.74",
          "ICD9:362.76",
          "MEDGEN:86317",
          "MESH:C562733",
          "OMIM:136880",
          "Orphanet:227796",
          "SCTID:68222009",
          "UMLS:C0311338",
          "icd11.foundation:1981512475"
        ],
        "synonyms": [
          "retinitis punctata albescens",
          "fundus albipunctatus",
          "pigmentary retinal dystrophy"
        ],
        "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": "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007639"
    },
    {
      "id": 10130,
      "label": "Bietti crystalline corneoretinal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050664",
          "GARD:0010050",
          "MEDGEN:347895",
          "MESH:C535440",
          "NCIT:C179299",
          "OMIM:210370",
          "Orphanet:41751",
          "SCTID:312927001",
          "UMLS:C1859486"
        ],
        "synonyms": [
          "BCD",
          "Bietti crystalline corneoretinal dystrophy",
          "Bietti crystalline retinopathy",
          "Bietti crystalline dystrophy",
          "Bietti tapetoretinal Degeneration with marginal corneal dystrophy"
        ],
        "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": "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008865"
    },
    {
      "id": 10479,
      "label": "Kandori fleck retina",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016900",
          "MEDGEN:78764",
          "MESH:C562701",
          "OMIM:228990",
          "Orphanet:99179",
          "SCTID:765191009",
          "UMLS:C0271257",
          "icd11.foundation:697904956"
        ],
        "synonyms": [
          "FLECK retina of KANDORI"
        ],
        "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": "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009236"
    },
    {
      "id": 19189,
      "label": "Stargardt disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        16936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050817",
          "GARD:0000181",
          "MEDGEN:75734",
          "MESH:D000080362",
          "MedDRA:10062766",
          "NANDO:1200933",
          "NCIT:C85078",
          "OMIMPS:248200",
          "Orphanet:827",
          "SCTID:47673003",
          "UMLS:C0271093",
          "icd11.foundation:1690038580"
        ],
        "synonyms": [
          "Stargardt 1",
          "fundus flavimaculatus",
          "Stargardt disease 1",
          "Stargardt macular dystrophy",
          "juvenile onset macular degeneration"
        ],
        "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": "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019353"
    }
  ],
  "roots": [
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}