{
  "id": 13042,
  "label": "hyper-IgM syndrome type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011971",
  "properties": {
    "xrefs": [
      "DOID:0060759",
      "GARD:0010581",
      "MEDGEN:328420",
      "OMIM:608106",
      "Orphanet:101092",
      "UMLS:C1720958"
    ],
    "synonyms": [
      "HIGM5",
      "UNG hyper-IgM syndrome",
      "hyper-IgM syndrome 5",
      "hyper-IgM syndrome caused by mutation in UNG",
      "hyper-IgM syndrome due to UNG deficiency",
      "hyper-IgM syndrome due to uracil N-glycosylase",
      "hyper-IgM syndrome type 5",
      "immunodeficiency with hyper IgM, type 5",
      "hyper IgM syndrome 5",
      "immunodeficiency with hyper IgM type 5",
      "immunodeficiency with hyper-IgM, type 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5806,
      "label": "hyper-IgM syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4548
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080544",
          "GARD:0023748",
          "ICD9:279.05",
          "MEDGEN:124420",
          "MESH:D053306",
          "NANDO:1200345",
          "NANDO:2200718",
          "NCIT:C3990",
          "NCIT:C84783",
          "OMIMPS:308230",
          "SCTID:82286005",
          "UMLS:C0272236"
        ],
        "synonyms": [
          "immunodeficiency with hyper-IgM",
          "hyperimmunoglobulin M syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation."
      },
      "child_count": 5,
      "reference_id": "MONDO:0003947"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5806,
      "label": "hyper-IgM syndrome"
    }
  ]
}