{
  "id": 18207,
  "label": "hyper-IgE syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018037",
  "properties": {
    "xrefs": [
      "DOID:0080545",
      "GARD:0010956",
      "MEDGEN:854488",
      "NANDO:1200340",
      "NANDO:2200713",
      "NCIT:C3144",
      "OMIMPS:147060",
      "Orphanet:331223",
      "UMLS:C3887645",
      "icd11.foundation:223461798"
    ],
    "synonyms": [
      "HIES",
      "hyper-IgE recurrent infection syndrome",
      "hyperimmunoglobulin E syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 9158,
      "label": "hyper-IgE recurrent infection syndrome 1, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3261",
          "GARD:0006800",
          "MEDGEN:445391",
          "MESH:C564135",
          "MESH:C567925",
          "NCIT:C126342",
          "OMIM:146840",
          "OMIM:147060",
          "Orphanet:2314",
          "SCTID:50926003",
          "UMLS:C2936739"
        ],
        "synonyms": [
          "hyper-IgE recurrent infection syndrome",
          "hyperimmunoglobulin E-recurrent infection syndrome",
          "AD hyperimmunoglobulin E syndrome",
          "AD-HIES",
          "Buckley syndrome",
          "HIES autosomal dominant",
          "HIES, autosomal dominant",
          "JOB syndrome",
          "Job syndrome autosomal dominant",
          "Job's syndrome",
          "STAT3 deficiency",
          "autosomal dominant HIES",
          "autosomal dominant hyper IgE syndrome",
          "autosomal dominant hyper-IgE syndrome",
          "autosomal dominant hyperimmunoglobulin E syndrome",
          "hyper Ig E syndrome, autosomal dominant",
          "hyper-IgE recurrent infection syndrome, autosomal dominant",
          "hyper-IgE syndrome, autosomal dominant",
          "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant",
          "hyperimmunoglobulin E syndrome type 1",
          "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007818"
    },
    {
      "id": 10704,
      "label": "combined immunodeficiency due to DOCK8 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080594",
          "GARD:0002816",
          "MEDGEN:1648410",
          "NCIT:C126343",
          "OMIM:243700",
          "Orphanet:217390",
          "UMLS:C4722305",
          "icd11.foundation:136043326"
        ],
        "synonyms": [
          "Cid due to DOCK8 deficiency",
          "DOCK8 immunodeficiency syndrome",
          "combined immunodeficiency due to DOCK8 deficiency",
          "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency",
          "dedicator of cytokinesis 8 deficiency",
          "AR hyperimmunoglobulin E syndrome",
          "AR-HIES",
          "DOCK8 deficiency",
          "HIES autosomal recessive",
          "HIES, autosomal recessive",
          "autosomal recessive hyper IgE syndrome",
          "hyper Ig E syndrome, autosomal recessive",
          "hyper-IgE recurrent infection syndrome, autosomal recessive",
          "hyper-IgE syndrome, autosomal recessive",
          "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009478"
    },
    {
      "id": 10947,
      "label": "Netherton syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7019,
        7611,
        16624,
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050474",
          "GARD:0007182",
          "MEDGEN:1802991",
          "MESH:D056770",
          "MedDRA:10062909",
          "NANDO:1200338",
          "NANDO:1200619",
          "NANDO:2200993",
          "NCIT:C84922",
          "NORD:1290",
          "OMIM:256500",
          "Orphanet:634",
          "SCTID:312514006",
          "UMLS:C5574950",
          "icd11.foundation:1797493665"
        ],
        "synonyms": [
          "Comèl-Netherton syndrome",
          "Ichthyosis, Netherton Syndrome",
          "NS",
          "Netherton syndrome",
          "bamboo hair syndrome",
          "Comel-Netherton syndrome",
          "Netherton disease",
          "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE",
          "neth"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009735"
    },
    {
      "id": 21844,
      "label": "hyper-IgE recurrent infection syndrome 5, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025521",
          "MEDGEN:1716052",
          "OMIM:618944",
          "UMLS:C5394550"
        ],
        "synonyms": [
          "HIES5",
          "HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE",
          "hyper-IgE recurrent infection syndrome 5, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030069"
    },
    {
      "id": 21998,
      "label": "immunodeficiency 94 with autoinflammation and dysmorphic facies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061064",
          "GARD:0025610",
          "MEDGEN:1802872",
          "OMIM:619750",
          "UMLS:C5676918"
        ],
        "synonyms": [
          "IMD94",
          "immunodeficiency 94 with autoinflammation and dysmorphic facies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030681"
    },
    {
      "id": 22334,
      "label": "hyper-IgE recurrent infection syndrome 3, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080595",
          "GARD:0025713",
          "MEDGEN:1648483",
          "OMIM:618282",
          "Orphanet:641368",
          "UMLS:C4748969"
        ],
        "synonyms": [
          "AR-HIES due to ZNF341 deficiency",
          "Autosomal recessive HIES due to ZNF341 deficiency",
          "Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency",
          "HIES3",
          "autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections."
      },
      "child_count": 0,
      "reference_id": "MONDO:0032654"
    },
    {
      "id": 22453,
      "label": "hyper-IgE recurrent infection syndrome 4, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080596",
          "GARD:0025747",
          "MEDGEN:1673363",
          "OMIM:618523",
          "UMLS:C5193141"
        ],
        "synonyms": [
          "hyper-IgE recurrent infection syndrome 4B, autosomal recessive",
          "HIES4",
          "HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032796"
    },
    {
      "id": 24837,
      "label": "hyper-IgE recurrent infection syndrome 4A, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026449",
          "MEDGEN:1809613",
          "OMIM:619752",
          "UMLS:C5676920"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800131"
    },
    {
      "id": 25746,
      "label": "hyper-IgE syndrome 6, autosomal dominant, with recurrent infections",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026874",
          "MEDGEN:1851769",
          "OMIM:620532",
          "UMLS:C5848786"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957807"
    },
    {
      "id": 25826,
      "label": "autosomal recessive combined immunodeficiency due to complete IL6ST deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075,
        18207,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026935",
          "MEDGEN:1864006",
          "Orphanet:656283",
          "UMLS:C5925103"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958115"
    },
    {
      "id": 25827,
      "label": "autosomal recessive combined immunodeficiency due to partial IL6ST deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075,
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026936",
          "MEDGEN:1863929",
          "Orphanet:656300",
          "UMLS:C5925106"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958116"
    },
    {
      "id": 25828,
      "label": "autosomal dominant combined immunodeficiency due to partial IL6ST deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075,
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026937",
          "MEDGEN:1863566",
          "Orphanet:656313",
          "UMLS:C5925105"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958117"
    },
    {
      "id": 25829,
      "label": "autosomal recessive combined immunodeficiency due to IL6R deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075,
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026938",
          "MEDGEN:1863760",
          "Orphanet:656326",
          "UMLS:C5925112"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958118"
    },
    {
      "id": 25831,
      "label": "autosomal dominant combined immunodeficiency due to ERBIN deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075,
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026939",
          "MEDGEN:1863785",
          "Orphanet:656912",
          "UMLS:C5925110"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958120"
    }
  ],
  "roots": [
    {
      "id": 4548,
      "label": "hyperimmunoglobulin syndrome"
    }
  ]
}