{
  "id": 13348,
  "label": "immunoglobulin A deficiency 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012291",
  "properties": {
    "xrefs": [
      "GARD:0010198",
      "MEDGEN:372182",
      "MESH:C536291",
      "OMIM:609529",
      "UMLS:C1836032"
    ],
    "synonyms": [
      "Immunoglobulin a deficiency type 2",
      "TNFRSF13B selective IgA deficiency disease",
      "immunoglobulin a deficiency 2",
      "selective IgA deficiency disease caused by mutation in TNFRSF13B",
      "IGAD2",
      "IMMUNOGLOBULIN A deficiency 2",
      "IgA, selective deficiency of, TACI related",
      "IgA, selective deficiency of, TACI-related",
      "Immunoglobulin A, selective deficiency of, TACI related",
      "Immunoglobulin A, selective deficiency of, TACI-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3569,
      "label": "selective IgA deficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3570
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060025",
          "DOID:11701",
          "EFO:1001929",
          "GARD:0027574",
          "MEDGEN:883982",
          "MESH:D017098",
          "NANDO:1200347",
          "NANDO:2200720",
          "NCIT:C26964",
          "Orphanet:69127",
          "SCTID:29260007",
          "UMLS:C4049006"
        ],
        "synonyms": [
          "SIgAD",
          "immunoglobulin A deficiency",
          "selective IgA immunodeficiency",
          "IgA deficiencies",
          "deficiencies, IgA",
          "deficiency, IgA",
          "immunoglobulin alpha deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders."
      },
      "child_count": 3,
      "reference_id": "MONDO:0001341"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3569,
      "label": "selective IgA deficiency disease"
    }
  ]
}