{
  "id": 16973,
  "label": "isolated agammaglobulinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016462",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16629,
      "label": "agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4332
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 10,
      "reference_id": "MONDO:0015977"
    }
  ],
  "children": [
    {
      "id": 11581,
      "label": "Bruton-type agammaglobulinemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16973
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14179",
          "GARD:0001033",
          "MEDGEN:65123",
          "MESH:C537409",
          "MedDRA:10060360",
          "NANDO:1200343",
          "NANDO:2200716",
          "NCIT:C3822",
          "OMIM:300755",
          "Orphanet:47",
          "SCTID:65880007",
          "UMLS:C0221026"
        ],
        "synonyms": [
          "BTK-deficiency",
          "Bruton type agammaglobulinemia",
          "Bruton's Sex-linked agammaglobulinemia",
          "Bruton's X-linked agammaglobulinemia",
          "Bruton-type agammaglobulinemia",
          "X-linked agammaglobulinemia",
          "agammaglobulinemia, X-linked 1, X-linked recessive",
          "Bruton's agammaglobulinemia",
          "XLA",
          "agammaglobulinemia, BTK",
          "agammaglobulinemia, Bruton tyrosine kinase",
          "agammaglobulinemia, X-linked",
          "agammaglobulinemia, X-linked, type 1",
          "hypogammaglobulinemia, X-linked",
          "immunodeficiency 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010421"
    },
    {
      "id": 12222,
      "label": "autosomal agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16973
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009640",
          "MEDGEN:316941",
          "MESH:C538056",
          "Orphanet:33110",
          "UMLS:C1832241"
        ],
        "synonyms": [
          "AGM",
          "agammaglobulinemia, non-Bruton type",
          "agammaglobulinemia, autosomal recessive, due to IGHM defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea."
      },
      "child_count": 8,
      "reference_id": "MONDO:0011096"
    }
  ],
  "roots": [
    {
      "id": 16629,
      "label": "agammaglobulinemia"
    }
  ]
}