{
  "id": 4332,
  "label": "B cell deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002211",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "id": 6569,
      "label": "leukocyte disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9500",
          "ICD9:288",
          "ICD9:288.9",
          "MEDGEN:7325",
          "MESH:D007960",
          "SCTID:54097007",
          "UMLS:C0023510"
        ],
        "synonyms": [
          "disease of leukocyte",
          "disease or disorder of leukocyte",
          "disorder of leukocyte",
          "disorder, leukocyte",
          "disorders, leukocyte",
          "leukocyte disease",
          "leukocyte disease or disorder",
          "leukocyte disorder",
          "white blood cell disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving leukocytes."
      },
      "child_count": 46,
      "reference_id": "MONDO:0004805"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:279.3",
          "MEDGEN:7034",
          "NANDO:2100204",
          "NCIT:C3131",
          "OMIMPS:300755",
          "SCTID:234532001",
          "UMLS:C0021051"
        ],
        "synonyms": [
          "immuno-deficiency",
          "immunodeficiency",
          "immunodeficiency disorder",
          "immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021094"
    }
  ],
  "children": [
    {
      "id": 3001,
      "label": "immunoglobulin beta deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060026",
          "GARD:0022808",
          "MEDGEN:502457",
          "MESH:C567200",
          "UMLS:C3502055"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0000583"
    },
    {
      "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"
    },
    {
      "id": 5619,
      "label": "selective immunoglobulin deficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6025",
          "GARD:0023643",
          "MEDGEN:235584",
          "NCIT:C27870",
          "UMLS:C1335942"
        ],
        "synonyms": [
          "selective Immunoglobulin isotype deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity."
      },
      "child_count": 2,
      "reference_id": "MONDO:0003739"
    },
    {
      "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"
    },
    {
      "id": 24036,
      "label": "PAX5-related B lymphopenia and autism spectrum disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4332,
        6961,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026131"
        ],
        "synonyms": [
          "hypogammaglobulinemia and autism spectrum disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100299"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 6569,
      "label": "leukocyte disorder"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}