{
  "id": 16471,
  "label": "immuno-osseous dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015708",
  "properties": {
    "xrefs": [
      "GARD:0020115",
      "MEDGEN:609410",
      "Orphanet:169349",
      "SCTID:254067002",
      "UMLS:C0432218",
      "icd11.foundation:1948303413"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    }
  ],
  "children": [
    {
      "id": 10685,
      "label": "Schimke immuno-osseous dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16471,
        17206
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009458"
    },
    {
      "id": 10815,
      "label": "cartilage-hair hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893,
        7611,
        16471,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14773",
          "GARD:0006996",
          "MEDGEN:67398",
          "MESH:C535916",
          "MedDRA:10069596",
          "NCIT:C61245",
          "NORD:1414",
          "OMIM:250250",
          "Orphanet:175",
          "SCTID:7720002",
          "UMLS:C0220748",
          "icd11.foundation:469051294"
        ],
        "synonyms": [
          "McKusick Type Metaphyseal Chondrodysplasia",
          "autosomal recessive metaphyseal chondrodysplasia",
          "cartilage hair hypoplasia",
          "cartilage-hair hypoplasia",
          "metaphyseal chondrodysplasia, McKusick type",
          "CHH",
          "cartilage hair hypoplasia like syndrome",
          "metaphyseal chondrodysplasia McKusick type",
          "metaphyseal chondrodysplasia, Mckusick type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009595"
    },
    {
      "id": 22738,
      "label": "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        16471,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022070",
          "MEDGEN:1799322",
          "Orphanet:508533",
          "UMLS:C5567899"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033682"
    },
    {
      "id": 22739,
      "label": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10564,
        16087,
        16471,
        18362,
        18956,
        18958,
        19279,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022071",
          "MEDGEN:1799320",
          "Orphanet:508542",
          "UMLS:C5567897"
        ],
        "synonyms": [
          "MYSM1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033683"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    }
  ]
}