{
  "id": 16629,
  "label": "agammaglobulinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015977",
  "properties": {
    "xrefs": [
      "DOID:2583",
      "GARD:0020320",
      "ICD9:279.00",
      "MEDGEN:168",
      "MESH:D000361",
      "MedDRA:10001471",
      "OMIMPS:601495",
      "Orphanet:183669",
      "UMLS:C0001768"
    ],
    "synonyms": [
      "agammaglobulinemia",
      "Gammaglobulin Deficiency",
      "Immunoglobulin Deficiency",
      "antibody Deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 4332,
      "label": "B cell deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6569,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2115",
          "GARD:0023084",
          "ICD9:279.03",
          "MEDGEN:340780",
          "NCIT:C4799",
          "UMLS:C1855067"
        ],
        "synonyms": [
          "B-cell deficiency",
          "deficiency of humoral immunity",
          "immunoglobulin heavy chain deficiency",
          "immunoglobulin heavy chain deletion"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient."
      },
      "child_count": 15,
      "reference_id": "MONDO:0002211"
    }
  ],
  "children": [
    {
      "id": 4075,
      "label": "congenital agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10564,
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14177",
          "GARD:0023034",
          "ICD9:279.04",
          "MEDGEN:1806025",
          "UMLS:C5574711"
        ],
        "synonyms": [
          "congenital agammaglobulinemia",
          "congenital hypogammaglobulinemia (finding)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An instance of agammaglobulinemia that is present from birth."
      },
      "child_count": 4,
      "reference_id": "MONDO:0001902"
    },
    {
      "id": 11468,
      "label": "immunodeficiency 61",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111999",
          "GARD:0010007",
          "MEDGEN:337462",
          "MESH:C538057",
          "OMIM:300310",
          "Orphanet:696945",
          "UMLS:C1845903"
        ],
        "synonyms": [
          "AGMX2",
          "immunodeficiency 61, X-linked recessive",
          "XLA2",
          "agammaglobulinemia X-linked type 2",
          "agammaglobulinemia, X-linked, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010296"
    },
    {
      "id": 16460,
      "label": "Good syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16629,
        17994
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060028",
          "GARD:0008622",
          "MEDGEN:67437",
          "Orphanet:169105",
          "SCTID:9893005",
          "UMLS:C0221027",
          "icd11.foundation:812332735"
        ],
        "synonyms": [
          "thymoma-immunodeficiency",
          "thymoma-immunodeficiency syndrome",
          "immunodeficiency with thymoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015696"
    },
    {
      "id": 16973,
      "label": "isolated agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017155",
          "MEDGEN:1639972",
          "Orphanet:229717",
          "SCTID:764858009",
          "UMLS:C4707181"
        ],
        "synonyms": [
          "isolated hypogammaglobulinemia",
          "nonsyndromic agammaglobulinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016462"
    },
    {
      "id": 16974,
      "label": "syndromic agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020596",
          "MEDGEN:1843258",
          "NCIT:C26931",
          "Orphanet:229720",
          "UMLS:C5680904"
        ],
        "synonyms": [
          "hypogammaglobulinemia",
          "syndrome associated with agammaglobulinemia",
          "syndromic agammaglobulinemia",
          "syndromic hypogammaglobulinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A agammaglobulinemia that is part of a larger syndrome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016463"
    },
    {
      "id": 18428,
      "label": "activated PI3K-delta syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011983",
          "ICD9:279.8",
          "MESH:C585640",
          "Orphanet:397596",
          "SCTID:711480000"
        ],
        "synonyms": [
          "APDS",
          "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0018338"
    },
    {
      "id": 21963,
      "label": "agammaglobulinemia 9, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081141",
          "GARD:0025591",
          "MEDGEN:1794269",
          "OMIM:619693",
          "Orphanet:693627",
          "UMLS:C5562059"
        ],
        "synonyms": [
          "AGM9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030519"
    },
    {
      "id": 21970,
      "label": "agammaglobulinemia 10, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081142",
          "GARD:0025595",
          "MEDGEN:1806624",
          "OMIM:619707",
          "UMLS:C5676900"
        ],
        "synonyms": [
          "AGM10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030529"
    },
    {
      "id": 24852,
      "label": "agammaglobulinemia, autosomal recessive, due to BOB1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026458"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800146"
    },
    {
      "id": 25376,
      "label": "agammaglobulinemia 8b, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081143",
          "GARD:0026674",
          "MEDGEN:1808468",
          "OMIM:619824",
          "UMLS:C5676958"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859234"
    }
  ],
  "roots": [
    {
      "id": 4332,
      "label": "B cell deficiency"
    }
  ]
}