{
  "id": 11027,
  "label": "osteoporosis-pseudoglioma syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009820",
  "properties": {
    "xrefs": [
      "DOID:0060849",
      "GARD:0004160",
      "MEDGEN:98480",
      "MESH:C536063",
      "MedDRA:10052452",
      "NCIT:C130998",
      "OMIM:259770",
      "Orphanet:2788",
      "UMLS:C0432252"
    ],
    "synonyms": [
      "OPPG",
      "osteoporosis-pseudoglioma syndrome",
      "Ops",
      "osteogenesis imperfecta ocular form",
      "osteogenesis imperfecta, ocular form",
      "osteoporosis pseudoglioma syndrome",
      "pseudoglioma with bone fragility"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures."
  },
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025155",
          "ICD9:743.56",
          "MEDGEN:757909",
          "Orphanet:98669",
          "SCTID:449866003",
          "UMLS:C3266134",
          "icd11.foundation:44221751"
        ],
        "synonyms": [
          "vitreoretinal dysplasia"
        ],
        "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": 18,
      "reference_id": "MONDO:0020247"
    },
    {
      "id": 24623,
      "label": "LRP5-related exudative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026378"
        ],
        "synonyms": [
          "LRP5-related exudative vitreoretinopathy with or without osteoporosis"
        ],
        "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": "Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700228"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density.",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026427",
          "HP:0004349"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density."
      },
      "child_count": 34,
      "reference_id": "MONDO:0800064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia"
    },
    {
      "id": 24623,
      "label": "LRP5-related exudative vitreoretinopathy"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}