{
  "id": 10685,
  "label": "Schimke immuno-osseous dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009458",
  "properties": {
    "xrefs": [
      "DOID:0060490",
      "GARD:0004984",
      "MEDGEN:164078",
      "MESH:C536629",
      "MedDRA:10048699",
      "NANDO:1200337",
      "NANDO:2200711",
      "NCIT:C135087",
      "NORD:1691",
      "OMIM:242900",
      "Orphanet:1830",
      "SCTID:723995003",
      "UMLS:C0877024",
      "icd11.foundation:2002226225"
    ],
    "synonyms": [
      "Schimke immuno-osseous dysplasia",
      "Schimke immunoosseous dysplasia",
      "Schimke syndrome",
      "spondyloepiphyseal dysplasia - nephrotic syndrome",
      "spondyloepiphyseal dysplasia-nephrotic syndrome",
      "IMMUNOOSSEOUS dysplasia, Schimke type",
      "SIOD",
      "Schimke IMMUNOOSSEOUS dysplasia",
      "Schimke Immunoosseous dysplasia",
      "spondyloepiphyseal dysplasia nephrotic syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16471,
      "label": "immuno-osseous dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020115",
          "MEDGEN:609410",
          "Orphanet:169349",
          "SCTID:254067002",
          "UMLS:C0432218",
          "icd11.foundation:1948303413"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015708"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16471,
      "label": "immuno-osseous dysplasia"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}