{
  "id": 12822,
  "label": "hyper-IgM syndrome type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011735",
  "properties": {
    "xrefs": [
      "DOID:0060023",
      "GARD:0010579",
      "MEDGEN:328419",
      "OMIM:606843",
      "Orphanet:101090",
      "UMLS:C1720957"
    ],
    "synonyms": [
      "CD40 hyper-IgM syndrome",
      "HIGM3",
      "hyper-IgM syndrome caused by mutation in CD40",
      "hyper-IgM syndrome due to CD40 deficiency",
      "immunodeficiency with hyper-IgM type 3",
      "CD40 deficiency",
      "hyper IgM syndrome 3",
      "hyper-IgM syndrome 3",
      "immunodeficiency with hyper IgM type 3",
      "immunodeficiency with hyper-IgM, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells."
  },
  "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"
    }
  ]
}