{
  "id": 6639,
  "label": "eye degenerative disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0004884",
  "properties": {
    "xrefs": [
      "DOID:9799",
      "ICD10CM:H44.5",
      "ICD9:360.2",
      "ICD9:360.20",
      "ICD9:360.29",
      "ICD9:360.4",
      "ICD9:360.40",
      "MEDGEN:509655",
      "SCTID:62585004",
      "UMLS:C0154777"
    ],
    "synonyms": [
      "degenerative disorder of eye",
      "eye neurodegenerative disease",
      "eyeball of camera-type eye neurodegenerative disease",
      "neurodegenerative disease of eyeball of camera-type eye",
      "degenerative disorder of globe"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A neurodegenerative disease that involves the eye."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "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",
          "MEDGEN:5092",
          "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": 3585,
      "label": "blind hypertensive eye",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6639
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11776",
          "ICD9:360.42",
          "MEDGEN:509660",
          "SCTID:264008",
          "UMLS:C0154789"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0001363"
    },
    {
      "id": 3599,
      "label": "vitreous syneresis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6616,
        6639
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11816",
          "ICD9:379.21",
          "MEDGEN:509938",
          "SCTID:60189009",
          "UMLS:C0155366"
        ],
        "synonyms": [
          "vitreous degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0001377"
    },
    {
      "id": 3605,
      "label": "degenerative myopia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3606,
        6639
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11829",
          "GARD:0022930",
          "ICD10CM:H44.2",
          "ICD9:360.21",
          "MEDGEN:57597",
          "MESH:D047728",
          "SCTID:32022003",
          "UMLS:C0154778"
        ],
        "synonyms": [
          "progressive high (degenerative) myopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001383"
    },
    {
      "id": 6640,
      "label": "choroidal sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4072,
        6639,
        7208,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:980",
          "ICD9:363.4",
          "ICD9:363.40",
          "MEDGEN:137998",
          "MESH:C535358",
          "SCTID:406446000",
          "UMLS:C0344297"
        ],
        "synonyms": [
          "choroidal degenerations",
          "neurodegenerative disease of optic choroid",
          "optic choroid neurodegenerative 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 neurodegenerative disease that involves the optic choroid."
      },
      "child_count": 16,
      "reference_id": "MONDO:0004885"
    },
    {
      "id": 9349,
      "label": "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6639,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002417",
          "ICD9:728.2",
          "MEDGEN:137966",
          "OMIM:158500",
          "Orphanet:2579",
          "SCTID:237611007",
          "UMLS:C0342281"
        ],
        "synonyms": [
          "Furukawa-Takagi-Nakao syndrome",
          "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus",
          "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus"
        ],
        "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": "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008023"
    },
    {
      "id": 10724,
      "label": "Krabbe disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6639,
        18952,
        19116,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10587",
          "GARD:0006844",
          "ICD10CM:E75.23",
          "MEDGEN:44131",
          "MESH:D007965",
          "MedDRA:10023492",
          "NANDO:1200074",
          "NANDO:2200564",
          "NCIT:C61254",
          "NORD:1368",
          "OMIM:245200",
          "Orphanet:487",
          "SCTID:189979005",
          "SCTID:192782005",
          "UMLS:C0023521",
          "icd11.foundation:796317173"
        ],
        "synonyms": [
          "GALC deficiency",
          "GALC enzyme deficiency",
          "Krabbe disease",
          "Krabbe's leukodystrophy",
          "Leukodystrophy, Krabbe's",
          "diffuse globoid body sclerosis",
          "galactocerebrosidase deficiency",
          "galactosylceramidase deficiency",
          "galactosylceramide lipidosis",
          "globoid cell leukodystrophy",
          "globoid cell leukoencephalopathy",
          "later onset Krabbe disease",
          "later-onset Krabbe disease",
          "GLD",
          "Krabbe leukodystrophy",
          "galactosylceramide Beta-galactosidase deficiency"
        ],
        "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 lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms."
      },
      "child_count": 12,
      "reference_id": "MONDO:0009499"
    },
    {
      "id": 11252,
      "label": "corneal-cerebellar syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6639,
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001525",
          "MEDGEN:341379",
          "MESH:C535472",
          "OMIM:271310",
          "Orphanet:3177",
          "SCTID:720750004",
          "UMLS:C1849087",
          "icd11.foundation:577494924"
        ],
        "synonyms": [
          "Der Kaloustian-Jarudi-Khoury syndrome",
          "corneal-cerebellar syndrome",
          "spinocerebellar degeneration-corneal dystrophy syndrome",
          "Der Kaloustian Jarudi Khoury syndrome",
          "corneal cerebellar syndrome",
          "corneal dystrophy with spinocerebellar Degeneration",
          "spinocerebellar degeneration and corneal dystrophy",
          "spinocerebellar degeneration corneal dystrophy"
        ],
        "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": "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010063"
    },
    {
      "id": 15608,
      "label": "multiple mitochondrial dysfunctions syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6639,
        17655,
        18952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080136",
          "GARD:0017809",
          "MEDGEN:899010",
          "OMIM:616370",
          "Orphanet:457406",
          "UMLS:C4225348"
        ],
        "synonyms": [
          "ISCA2 fatal multiple mitochondrial dysfunctions syndrome",
          "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2",
          "multiple mitochondrial dysfunctions syndrome 4",
          "multiple mitochondrial dysfunctions syndrome type 4",
          "MMDS4"
        ],
        "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 fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014611"
    },
    {
      "id": 18648,
      "label": "tremor-ataxia-central hypomyelination syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6639,
        12973,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017774",
          "MEDGEN:1842823",
          "Orphanet:447896",
          "UMLS:C5680067"
        ],
        "synonyms": [
          "TACH syndrome"
        ],
        "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:0018656"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    }
  ]
}