{
  "id": 6979,
  "label": "retinal disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005283",
  "properties": {
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      "DOID:5679",
      "EFO:0003839",
      "HGNC:8002",
      "ICD9:362.89",
      "ICD9:362.9",
      "MEDGEN:11209",
      "MESH:D012164",
      "NCIT:C26875",
      "NCIT:C62601",
      "SCTID:29555009",
      "UMLS:C0035309"
    ],
    "synonyms": [
      "eye disease of retina",
      "retina eye disease",
      "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"
      }
    ],
    "definition": "Any disease or disorder of the retina."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 32,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
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          "ICD9:349.9",
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          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
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        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    },
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
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          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    }
  ],
  "children": [
    {
      "id": 3745,
      "label": "retinal ischemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6784,
        6979,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12510",
          "ICD10CM:H35.82",
          "ICD9:362.84",
          "MEDGEN:102372",
          "SCTID:26468004",
          "UMLS:C0162291"
        ],
        "synonyms": [
          "ischaemic disease of retina",
          "ischemic disease of retina",
          "retina ischaemic disease",
          "retina ischemic disease"
        ],
        "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 ischemic disease that involves the retina."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001538"
    },
    {
      "id": 4033,
      "label": "rubeosis iridis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14000",
          "ICD9:364.42",
          "MEDGEN:488789",
          "SCTID:51995000",
          "UMLS:C0154916"
        ],
        "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:0001855"
    },
    {
      "id": 4419,
      "label": "retinal vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        7202,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2462",
          "ICD9:362.13",
          "MEDGEN:57824",
          "NCIT:C35170",
          "SCTID:57534004",
          "UMLS:C0154833"
        ],
        "synonyms": [
          "retinal vascular disorder"
        ],
        "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": "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002311"
    },
    {
      "id": 4749,
      "label": "retinitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        8351
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3612",
          "GARD:0023219",
          "MEDGEN:19765",
          "MESH:D012173",
          "NCIT:C115993",
          "SCTID:399463004",
          "UMLS:C0035333"
        ],
        "synonyms": [
          "inflammation of retina",
          "retina inflammation"
        ],
        "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": "Inflammation of the retina."
      },
      "child_count": 10,
      "reference_id": "MONDO:0002708"
    },
    {
      "id": 5476,
      "label": "retinal nerve fiber layer disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4014,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5678",
          "ICD9:362.85",
          "MEDGEN:784046",
          "SCTID:193428001",
          "UMLS:C3665426"
        ],
        "synonyms": [
          "disease of nerve fiber layer of retina",
          "disease of nerve fibre layer of retina",
          "disease or disorder of nerve fiber layer of retina",
          "disease or disorder of nerve fibre layer of retina",
          "disorder of nerve fiber layer of retina",
          "disorder of nerve fibre layer of retina",
          "nerve fiber layer of retina disease",
          "nerve fiber layer of retina disease or disorder",
          "nerve fibre layer of retina disease",
          "nerve fibre layer of retina disease or disorder",
          "retinal nerve fiber bundle defects",
          "retinal nerve fibre bundle defects",
          "retinal nerve fibre bundle deficiency",
          "nerve fiber bundle defect",
          "nerve fibre bundle defect"
        ],
        "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 disease that involves the nerve fiber layer of retina."
      },
      "child_count": 2,
      "reference_id": "MONDO:0003579"
    },
    {
      "id": 5878,
      "label": "retinal edema",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6929",
          "ICD10CM:H35.81",
          "ICD9:362.83",
          "MEDGEN:69183",
          "SCTID:6141006",
          "UMLS:C0242420"
        ],
        "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": 1,
      "reference_id": "MONDO:0004037"
    },
    {
      "id": 6377,
      "label": "retinal degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8466",
          "MEDGEN:48432",
          "MESH:D012162",
          "NCIT:C34979",
          "SCTID:95695004",
          "UMLS:C0035304"
        ],
        "synonyms": [
          "retina degeneration",
          "retina, Degeneration Of"
        ],
        "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": "Degeneration of the retina."
      },
      "child_count": 6,
      "reference_id": "MONDO:0004580"
    },
    {
      "id": 6383,
      "label": "night blindness",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4110,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8499",
          "ICD10CM:H53.6",
          "ICD9:368.6",
          "ICD9:368.60",
          "ICD9:368.69",
          "MEDGEN:10349",
          "MESH:D009755",
          "NCIT:C34850",
          "SCTID:65194006",
          "UMLS:C0028077",
          "icd11.foundation:205882698"
        ],
        "synonyms": [
          "nyctalopia"
        ],
        "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": "Inability to see clearly in dim light."
      },
      "child_count": 6,
      "reference_id": "MONDO:0004588"
    },
    {
      "id": 8245,
      "label": "hypertensive retinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11561",
          "EFO:1000977",
          "ICD10CM:H35.03",
          "ICD9:362.11",
          "MEDGEN:101819",
          "MESH:D058437",
          "MedDRA:10020839",
          "NCIT:C3514",
          "SCTID:6962006",
          "UMLS:C0152132",
          "icd11.foundation:218513628"
        ],
        "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": "Retinopathy due to hypertension."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006797"
    },
    {
      "id": 8287,
      "label": "macular holes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7633",
          "EFO:1001028",
          "MEDGEN:6176",
          "NCIT:C34795",
          "SCTID:232006002",
          "UMLS:C0024441"
        ],
        "synonyms": [
          "macular hole"
        ],
        "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 hole in the macula of the retina."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006843"
    },
    {
      "id": 9674,
      "label": "retinal detachment",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5327",
          "EFO:0005773",
          "ICD9:361.89",
          "ICD9:361.9",
          "ICD9:362.40",
          "MEDGEN:19759",
          "MESH:D012163",
          "NCIT:C26874",
          "OMIM:180050",
          "OMIM:312530",
          "SCTID:42059000",
          "UMLS:C0035305"
        ],
        "synonyms": [
          "detached retina",
          "retina, detached",
          "retinal detachment"
        ],
        "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": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008375"
    },
    {
      "id": 11779,
      "label": "iris hypoplasia with glaucoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        18318,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009171",
          "MEDGEN:326993",
          "MESH:C535538",
          "OMIM:308500",
          "UMLS:C1839928"
        ],
        "synonyms": [
          "iris hypoplasia with glaucoma",
          "IHG",
          "iris hypoplasia and glaucoma"
        ],
        "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:0010633"
    },
    {
      "id": 12866,
      "label": "angioid streaks",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13401",
          "EFO:1000805",
          "MEDGEN:1541",
          "MESH:D000793",
          "MedDRA:10066191",
          "OMIM:607140",
          "UMLS:C0002982"
        ],
        "synonyms": [
          "angioid streaks"
        ],
        "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": "Small breaks in the elastin-filled tissue of the retina."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011782"
    },
    {
      "id": 13101,
      "label": "bradyopsia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050335",
          "GARD:0012299",
          "ICD9:368.8",
          "MEDGEN:331206",
          "MESH:C564243",
          "OMIMPS:608415",
          "Orphanet:75374",
          "SCTID:711163009",
          "UMLS:C1842073",
          "icd11.foundation:1497247503"
        ],
        "synonyms": [
          "PERRS",
          "bradyopsia",
          "prolonged electroretinal response suppression"
        ],
        "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": "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0012033"
    },
    {
      "id": 16560,
      "label": "myopic macular degeneration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009201",
          "GARD:0020153",
          "MEDGEN:676480",
          "Orphanet:178493",
          "SCTID:312898002",
          "UMLS:C0730271"
        ],
        "synonyms": [
          "myopic maculopathy"
        ],
        "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:0015807"
    },
    {
      "id": 17538,
      "label": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        6982,
        18933,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000587",
          "MEDGEN:928493",
          "MESH:C535617",
          "Orphanet:2773",
          "SCTID:722110003",
          "UMLS:C4302824"
        ],
        "synonyms": [
          "Al Gazali-Nair syndrome",
          "Al Gazali Sabrinathan Nair syndrome",
          "osteogenesis imperfecta retinopathy seizures intellectual deficit"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017196"
    },
    {
      "id": 18290,
      "label": "congenital retinal arteriovenous communication",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021530",
          "MEDGEN:105478",
          "Orphanet:353334",
          "UMLS:C0521570"
        ],
        "synonyms": [
          "congenital arteriovenous anastomoses of the retina",
          "congenital arteriovenous communication of the retina",
          "congenital retinal arteriovenous anastomoses"
        ],
        "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:0018145"
    },
    {
      "id": 18501,
      "label": "Eales disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006309",
          "MEDGEN:75733",
          "MESH:C538011",
          "MedDRA:10057429",
          "NORD:1076",
          "Orphanet:40923",
          "SCTID:54122009",
          "UMLS:C0271073",
          "icd11.foundation:945788847"
        ],
        "synonyms": [
          "idiopathic retinal perivasculitis",
          "idiopathic retinal vasculitis",
          "idiopathic obliterative vasculopathy",
          "idiopathic recurrent vitreal haemorrhage",
          "idiopathic recurrent vitreal hemorrhage"
        ],
        "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": "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018460"
    },
    {
      "id": 18617,
      "label": "central serous chorioretinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000200",
          "ICD10CM:H35.71",
          "ICD9:362.41",
          "MEDGEN:147591",
          "MESH:D056833",
          "NCIT:C115124",
          "Orphanet:443079",
          "SCTID:312956001",
          "UMLS:C0730328",
          "icd11.foundation:1623925689"
        ],
        "synonyms": [
          "CSC",
          "CSCR",
          "central serous retinopathy",
          "central serous chorioretinopathy after bone marrow transplantation",
          "central serous choroidopathy"
        ],
        "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": "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018616"
    },
    {
      "id": 18788,
      "label": "achromatopsia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3891,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13911",
          "GARD:0015015",
          "ICD10CM:H53.51",
          "ICD9:368.54",
          "MEDGEN:57751",
          "MedDRA:10000454",
          "NCIT:C84528",
          "Orphanet:49382",
          "SCTID:102450007",
          "UMLS:C0152200"
        ],
        "synonyms": [
          "ACHM",
          "Pingelapese blindness",
          "Rod monochromacy",
          "Rod monochromatism",
          "achromatopsia",
          "complete or incomplete color blindness",
          "complete or incomplete colour blindness",
          "total color blindness",
          "total colour blindness"
        ],
        "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": "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018852"
    },
    {
      "id": 18996,
      "label": "cancer-associated retinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        18348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018912",
          "ICD9:362.10",
          "MEDGEN:729915",
          "MESH:D059545",
          "Orphanet:71505",
          "SCTID:404663008",
          "UMLS:C1321315",
          "icd11.foundation:1216073790"
        ],
        "synonyms": [
          "CAR syndrome",
          "paraneoplastic retinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019112"
    },
    {
      "id": 19685,
      "label": "persistent placoid maculopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019369",
          "MEDGEN:930492",
          "Orphanet:97341",
          "SCTID:719297006",
          "UMLS:C4304823",
          "icd11.foundation:1143591468"
        ],
        "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": "Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019973"
    },
    {
      "id": 19766,
      "label": "inherited vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019539",
          "HP:0007773",
          "Orphanet:98668"
        ],
        "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": 10,
      "reference_id": "MONDO:0020246"
    },
    {
      "id": 20441,
      "label": "retina neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        20431,
        20456
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000509",
          "MEDGEN:101180",
          "NCIT:C4800",
          "UMLS:C0524801"
        ],
        "synonyms": [
          "neoplasm of retina",
          "neoplasm of the retina",
          "retina neoplasm (disease)",
          "retina tumor",
          "retina tumour",
          "retinal neoplasm",
          "retinal tumor",
          "retinal tumour",
          "tumor of retina",
          "tumor of the retina",
          "tumour of retina",
          "tumour of the 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"
          }
        ],
        "definition": "A neoplasm (disease) that involves the retina."
      },
      "child_count": 15,
      "reference_id": "MONDO:0021231"
    },
    {
      "id": 20852,
      "label": "retinal ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        7000,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019987",
          "MEDGEN:1843204",
          "Orphanet:156165",
          "UMLS:C5680651"
        ],
        "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": 27,
      "reference_id": "MONDO:0022410"
    },
    {
      "id": 21278,
      "label": "melanoma associated retinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012041",
          "MEDGEN:452708",
          "SCTID:312941005",
          "UMLS:C0730308",
          "icd11.foundation:2011212045"
        ],
        "synonyms": [
          "Melanoma Associated Retinopathy",
          "Melanoma associated retinopathy",
          "Melanoma-Associated Retinopathies",
          "Melanoma-Associated Retinopathy",
          "Melanoma-associated retinopathy",
          "Retinopathies, Melanoma-Associated",
          "Retinopathy, Melanoma-Associated"
        ],
        "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": "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision."
      },
      "child_count": 0,
      "reference_id": "MONDO:0023868"
    },
    {
      "id": 22790,
      "label": "isolated foveal hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022127",
          "ICD10CM:H35.8",
          "MEDGEN:376923",
          "Orphanet:519398",
          "UMLS:C1850993"
        ],
        "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 rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology."
      },
      "child_count": 0,
      "reference_id": "MONDO:0034978"
    },
    {
      "id": 23361,
      "label": "acute macular neuroretinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022000",
          "MEDGEN:1678428",
          "Orphanet:488239",
          "UMLS:C5200735",
          "icd11.foundation:1081365759"
        ],
        "synonyms": [
          "AMNR"
        ],
        "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:0044627"
    },
    {
      "id": 23772,
      "label": "autoimmune retinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        4981,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1388012",
          "SCTID:724809006",
          "UMLS:C3203657",
          "icd11.foundation:1969888129"
        ],
        "synonyms": [
          "AIR",
          "autoimmune disease of retina",
          "retina autoimmune disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100014"
    },
    {
      "id": 24510,
      "label": "proliferative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:66167",
          "MESH:D018630",
          "SCTID:232016005",
          "UMLS:C0242852",
          "icd11.foundation:1908429642"
        ],
        "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": "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700115"
    },
    {
      "id": 25655,
      "label": "isolated chorioretinal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022096",
          "MEDGEN:1842795",
          "Orphanet:519300",
          "UMLS:C5681368"
        ],
        "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:0957337"
    },
    {
      "id": 26057,
      "label": "torpedo maculopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027188",
          "MEDGEN:1863888",
          "Orphanet:674935",
          "UMLS:C5891237"
        ],
        "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:0971125"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    }
  ]
}