{
  "id": 17538,
  "label": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017196",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6979,
      "label": "retinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "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."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005283"
    },
    {
      "id": 6982,
      "label": "developmental disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003852",
          "MESH:D002658"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)"
      },
      "child_count": 5,
      "reference_id": "MONDO:0005287"
    },
    {
      "id": 18933,
      "label": "osteogenesis imperfecta",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12347",
          "GARD:0001017",
          "ICD10CM:Q78.0",
          "ICD9:756.51",
          "MEDGEN:45246",
          "MESH:D010013",
          "MedDRA:10031243",
          "NANDO:1200873",
          "NANDO:2201011",
          "NCIT:C26837",
          "NORD:1535",
          "OMIMPS:166200",
          "Orphanet:666",
          "SCTID:78314001",
          "UMLS:C0029434",
          "icd11.foundation:1219932551"
        ],
        "synonyms": [
          "Lobstein disease",
          "OI",
          "Osteopsathyrosis",
          "Porak and Durante disease",
          "brittle bone disease",
          "glass bone disease",
          "Vrolik disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019019"
    },
    {
      "id": 23256,
      "label": "hereditary optic atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3336,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025871",
          "ICD10CM:H47.22",
          "MEDGEN:45207",
          "MESH:D015418",
          "NCIT:C34864",
          "OMIMPS:165500",
          "SCTID:26360005",
          "UMLS:C0029125"
        ],
        "synonyms": [
          "hereditary optic atrophy",
          "Atrophies, hereditary optic",
          "atrophy, hereditary optic",
          "hereditary optic Atrophies",
          "optic atrophy, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve."
      },
      "child_count": 30,
      "reference_id": "MONDO:0043878"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6979,
      "label": "retinal disorder"
    },
    {
      "id": 6982,
      "label": "developmental disability"
    },
    {
      "id": 18933,
      "label": "osteogenesis imperfecta"
    },
    {
      "id": 23256,
      "label": "hereditary optic atrophy"
    }
  ]
}