{
  "id": 16974,
  "label": "syndromic agammaglobulinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016463",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 5696,
      "label": "transient hypogammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:625",
          "GARD:0023686",
          "MEDGEN:167815",
          "NCIT:C27319",
          "UMLS:C0859960"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels."
      },
      "child_count": 1,
      "reference_id": "MONDO:0003827"
    },
    {
      "id": 13556,
      "label": "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4075,
        16087,
        16974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010011",
          "MEDGEN:351236",
          "MESH:C538055",
          "OMIM:610483",
          "Orphanet:83617",
          "SCTID:722281001",
          "UMLS:C1864848"
        ],
        "synonyms": [
          "agammaglobulinemia, microcephaly, and severe dermatitis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012508"
    },
    {
      "id": 16333,
      "label": "common variable immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12177",
          "GARD:0006140",
          "ICD10CM:D83",
          "ICD10WHO:D83",
          "ICD9:279.06",
          "MEDGEN:40407",
          "MESH:D017074",
          "MedDRA:10021449",
          "NANDO:1200344",
          "NANDO:2200717",
          "NCIT:C26725",
          "NORD:990",
          "OMIMPS:607594",
          "Orphanet:1572",
          "SCTID:23238000",
          "UMLS:C0009447",
          "icd11.foundation:1908371517"
        ],
        "synonyms": [
          "Common Variable Immune Deficiency",
          "idiopathic immunoglobulin deficiency",
          "primary antibody deficiency",
          "primary hypogammaglobulinemia",
          "secondary hypogammaglobulinemia",
          "Immunoglobulin deficiency, late-onset",
          "acquired agammaglobulinemia",
          "acquired hypogammaglobulinemia",
          "common variable hypogamma-globulinemia",
          "common variable immune deficiency",
          "hypogamma-globulinemia, acquired"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria."
      },
      "child_count": 16,
      "reference_id": "MONDO:0015517"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16629,
      "label": "agammaglobulinemia"
    }
  ]
}