{
  "id": 11772,
  "label": "hyper-IgM syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010626",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 5806,
      "label": "hyper-IgM syndrome"
    }
  ]
}