{
  "id": 4075,
  "label": "congenital agammaglobulinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001902",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 10564,
      "label": "congenital hematological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760584",
          "NCIT:C104003",
          "UMLS:C3267032"
        ],
        "synonyms": [
          "congenital haematological system disease",
          "congenital hematological disorder",
          "congenital hematological system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder of the blood that is present at birth."
      },
      "child_count": 21,
      "reference_id": "MONDO:0009332"
    },
    {
      "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": 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": 18888,
      "label": "short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4075,
        11763
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016538",
          "Orphanet:632"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018967"
    }
  ],
  "roots": [
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 16629,
      "label": "agammaglobulinemia"
    }
  ]
}