{
  "id": 12626,
  "label": "hyper-IgM syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011528",
  "properties": {
    "xrefs": [
      "DOID:0060758",
      "GARD:0010578",
      "MEDGEN:354548",
      "NCIT:C129074",
      "OMIM:605258",
      "Orphanet:101089",
      "SCTID:403836001",
      "UMLS:C1720956"
    ],
    "synonyms": [
      "AICDA hyper-IgM syndrome",
      "Activation-induced cytidine deaminase deficiency",
      "HIGM2",
      "activation-induced cytidine deaminase deficiency",
      "aid deficiency",
      "hyper-IgM syndrome caused by mutation in AICDA",
      "hyper-IgM syndrome type 2",
      "hyper IgM syndrome 2",
      "hyper-IgM syndrome 2",
      "immunodeficiency with hyper IgM type 2",
      "immunodeficiency with hyper-IgM type 2",
      "immunodeficiency with hyper-IgM, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers."
  },
  "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"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5806,
      "label": "hyper-IgM syndrome"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}