{
  "id": 11791,
  "label": "oculocerebrorenal syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010645",
  "properties": {
    "xrefs": [
      "DOID:1056",
      "GARD:0003295",
      "ICD9:270.8",
      "MEDGEN:18145",
      "MESH:D009800",
      "MedDRA:10051707",
      "NANDO:2100028",
      "NANDO:2200188",
      "NCIT:C84940",
      "NORD:1379",
      "OMIM:309000",
      "Orphanet:534",
      "SCTID:79385002",
      "UMLS:C0028860",
      "icd11.foundation:1392767390"
    ],
    "synonyms": [
      "Lowe disease",
      "Lowe oculo-cerebro-renal syndrome",
      "Lowe oculocerebrorenal syndrome",
      "Lowe syndrome",
      "Lowe syndrome, X-linked recessive",
      "OCR",
      "OCRL",
      "oculo-cerebro-renal dystrophy",
      "oculo-cerebro-renal syndrome",
      "oculocerebrorenal dystrophy",
      "oculocerebrorenal syndrome",
      "oculocerebrorenal syndrome of Lowe",
      "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency",
      "Ocrl1",
      "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    },
    {
      "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": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport"
    }
  ]
}