{
  "id": 10315,
  "label": "ocular cystinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009064",
  "properties": {
    "xrefs": [
      "GARD:0009756",
      "MEDGEN:419313",
      "MESH:C535765",
      "NANDO:1200164",
      "NANDO:2201236",
      "OMIM:219750",
      "Orphanet:411641",
      "SCTID:25010000",
      "UMLS:C2931013"
    ],
    "synonyms": [
      "adult-onset cystinosis",
      "non-nephropathic cystinosis",
      "ocular cystinosis",
      "cystinosis, ADULT NONNEPHROPATHIC",
      "cystinosis, benign Nonnephropathic",
      "cystinosis, ocular Nonnephropathic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 16813,
      "label": "cystinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19109
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1064",
          "GARD:0006236",
          "ICD10CM:E72.04",
          "MEDGEN:1384792",
          "MESH:D003554",
          "MedDRA:10011777",
          "NANDO:1200161",
          "NANDO:2200571",
          "NCIT:C2976",
          "NORD:1028",
          "Orphanet:213",
          "SCTID:190681003",
          "UMLS:C4316899",
          "icd11.foundation:733715856"
        ],
        "synonyms": [
          "Protein defect of cystin transport",
          "cystine storage disease",
          "cystinosis",
          "Cystinoses",
          "cystine diathesis",
          "cystine disease"
        ],
        "definition": "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016239"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018948",
          "ICD9:270.0",
          "MEDGEN:541381",
          "Orphanet:79166",
          "SCTID:16784003",
          "UMLS:C0268641",
          "icd11.foundation:1631611896"
        ],
        "synonyms": [
          "inborn disorder of amino acid absorption and transport",
          "disorder of amino acid absorption and transport"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0019216"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 16813,
      "label": "cystinosis"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport"
    }
  ]
}