{
  "id": 5806,
  "label": "hyper-IgM syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003947",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4548,
      "label": "hyperimmunoglobulin syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2959",
          "GARD:0023142",
          "MEDGEN:272730",
          "NCIT:C27579",
          "UMLS:C1334069"
        ],
        "synonyms": [
          "hyperimmunoglobulin syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0002468"
    }
  ],
  "children": [
    {
      "id": 11772,
      "label": "hyper-IgM syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        5806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060022",
          "DOID:6620",
          "GARD:0000073",
          "MEDGEN:96019",
          "NCIT:C61244",
          "NORD:1261",
          "OMIM:308230",
          "Orphanet:101088",
          "SCTID:403835002",
          "UMLS:C0398689"
        ],
        "synonyms": [
          "HIGM1",
          "Hyper IgM Syndromes",
          "X-linked hyper-IgM syndrome",
          "XHIGM",
          "hyper-IgM syndrome due to CD40 ligand deficiency",
          "hyper-IgM syndrome due to CD40L deficiency",
          "hyper-IgM syndrome type 1",
          "hyper-IgM syndrome, X-linked",
          "hyperimmunoglobulin M syndrome",
          "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive",
          "CD40 ligand deficiency",
          "HIGM",
          "IHIS",
          "X-linked hyper IgM syndrome",
          "XHIM",
          "hyper IgM immunodeficiency, X-linked",
          "hyper IgM syndrome",
          "hyper IgM syndrome 1",
          "hyper-IgM immunodeficiency, X-linked",
          "hyper-IgM syndrome",
          "hyper-IgM syndrome 1",
          "immunodeficiency 3",
          "immunodeficiency with hyper IgM type 1",
          "immunodeficiency with hyper-IgM, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010626"
    },
    {
      "id": 12626,
      "label": "hyper-IgM syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5806,
        7611
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011528"
    },
    {
      "id": 12822,
      "label": "hyper-IgM syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5806
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011735"
    },
    {
      "id": 13042,
      "label": "hyper-IgM syndrome type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5806
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011971"
    },
    {
      "id": 13056,
      "label": "hyper-IgM syndrome type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060760",
          "GARD:0010580",
          "MEDGEN:330847",
          "MESH:C564277",
          "OMIM:608184",
          "Orphanet:101091",
          "UMLS:C1842413"
        ],
        "synonyms": [
          "HIGM4",
          "hyper-IgM syndrome type 4",
          "hyper IgM syndrome 4",
          "hyper-IgM syndrome 4",
          "immunodeficiency with hyper IgM type 4",
          "immunodeficiency with hyper-IgM type 4",
          "immunodeficiency with hyper-IgM, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011985"
    }
  ],
  "roots": [
    {
      "id": 4548,
      "label": "hyperimmunoglobulin syndrome"
    }
  ]
}