{
  "id": 12222,
  "label": "autosomal agammaglobulinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011096",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 14027,
      "label": "agammaglobulinemia 6, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081138",
          "GARD:0015579",
          "MEDGEN:461557",
          "OMIM:612692",
          "UMLS:C3150207"
        ],
        "synonyms": [
          "CD79B autosomal agammaglobulinemia",
          "agammaglobulinemia 6, autosomal recessive",
          "autosomal agammaglobulinemia caused by mutation in CD79B",
          "AGM6",
          "agammaglobulinemia, autosomal recessive, due to Cd79B defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012987"
    },
    {
      "id": 14322,
      "label": "agammaglobulinemia 2, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060024",
          "DOID:0081135",
          "GARD:0015672",
          "MEDGEN:462100",
          "OMIM:613500",
          "UMLS:C3150750"
        ],
        "synonyms": [
          "AGM2",
          "IGLL1 autosomal agammaglobulinemia",
          "agammaglobulinemia 2, autosomal recessive",
          "agammaglobulinemia, autosomal recessive, due to IGLL1 defect",
          "autosomal agammaglobulinemia caused by mutation in IGLL1",
          "lambda 5 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013287"
    },
    {
      "id": 14323,
      "label": "agammaglobulinemia 3, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081137",
          "GARD:0015673",
          "MEDGEN:462101",
          "OMIM:613501",
          "UMLS:C3150751"
        ],
        "synonyms": [
          "CD79A autosomal agammaglobulinemia",
          "agammaglobulinemia 3, autosomal recessive",
          "autosomal agammaglobulinemia caused by mutation in CD79A",
          "AGM3",
          "agammaglobulinemia, autosomal recessive, due to Cd79A defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013288"
    },
    {
      "id": 14324,
      "label": "agammaglobulinemia 4, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060027",
          "GARD:0015674",
          "MEDGEN:462102",
          "OMIM:613502",
          "UMLS:C3150752"
        ],
        "synonyms": [
          "AGM4",
          "B cell linker protein deficiency",
          "BLNK autosomal agammaglobulinemia",
          "agammaglobulinemia 4, autosomal recessive",
          "agammaglobulinemia, autosomal recessive, due to Blnk defect",
          "autosomal agammaglobulinemia caused by mutation in BLNK"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013289"
    },
    {
      "id": 14325,
      "label": "agammaglobulinemia 5, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080588",
          "GARD:0015675",
          "MEDGEN:462103",
          "OMIM:613506",
          "UMLS:C3150753"
        ],
        "synonyms": [
          "LRRC8A autosomal agammaglobulinemia",
          "agammaglobulinemia 5, autosomal dominant",
          "autosomal agammaglobulinemia caused by mutation in LRRC8A",
          "AGM5",
          "agammaglobulinemia, autosomal dominant, due to Lrrc8A defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013290"
    },
    {
      "id": 15092,
      "label": "agammaglobulinemia 7, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081139",
          "GARD:0015918",
          "MEDGEN:767603",
          "OMIM:615214",
          "UMLS:C3554689"
        ],
        "synonyms": [
          "PIK3R1 autosomal agammaglobulinemia",
          "agammaglobulinemia 7, autosomal recessive",
          "autosomal agammaglobulinemia caused by mutation in PIK3R1",
          "AGM7",
          "agammaglobulinemia, autosomal recessive, due to PIK3R1 defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014083"
    },
    {
      "id": 15824,
      "label": "agammaglobulinemia 8, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081140",
          "GARD:0016171",
          "MEDGEN:934753",
          "OMIM:616941",
          "UMLS:C4310786"
        ],
        "synonyms": [
          "AGM8",
          "TCF3 autosomal agammaglobulinemia",
          "agammaglobulinemia 8, autosomal dominant",
          "agammaglobulinemia 8, autosomal dominant; AGM8",
          "autosomal agammaglobulinemia caused by mutation in TCF3",
          "agammaglobulinemia, autosomal dominant, due to TCF3 defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014840"
    },
    {
      "id": 20135,
      "label": "autosomal recessive agammaglobulinemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081136",
          "GARD:0025227",
          "MEDGEN:463494",
          "OMIM:601495",
          "UMLS:C3152144"
        ],
        "synonyms": [
          "AGM1",
          "autosomal recessive agammaglobulinemia 1",
          "agammaglobulinemia 1, autosomal recessive",
          "agammaglobulinemia, autosomal recessive, due to IGHM defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020729"
    }
  ],
  "roots": [
    {
      "id": 16973,
      "label": "isolated agammaglobulinemia"
    }
  ]
}