{
  "id": 16075,
  "label": "combined immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015131",
  "properties": {
    "xrefs": [
      "DOID:0111962",
      "DOID:628",
      "GARD:0019806",
      "ICD9:279.2",
      "MEDGEN:751396",
      "NANDO:2100203",
      "NCIT:C27871",
      "Orphanet:101972",
      "UMLS:C2711630",
      "icd11.foundation:1616506198"
    ],
    "synonyms": [
      "CID",
      "congenital combined immunodeficiency",
      "X-linked combined immunodeficiency",
      "combined T and B cell immunodeficiency",
      "combined T cell and B cell immunodeficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 33,
  "parents": [
    {
      "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": 10107,
      "label": "ataxia telangiectasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075,
        19578,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12704",
          "GARD:0005862",
          "ICD9:334.8",
          "MEDGEN:439",
          "MESH:D001260",
          "MedDRA:10003594",
          "NANDO:1200331",
          "NANDO:2200705",
          "NCIT:C2887",
          "NORD:816",
          "OMIM:208900",
          "Orphanet:100",
          "SCTID:68504005",
          "UMLS:C0004135"
        ],
        "synonyms": [
          "Louis-Bar syndrome",
          "ataxia - telangiectasia",
          "ataxia telangiectasia",
          "ataxia telangiectasia syndrome",
          "AT",
          "AT, complementation group A",
          "AT, complementation group C",
          "AT, complementation group D",
          "AT, complementation group E",
          "AT1",
          "ataxia - telangiectasia variant",
          "ataxia-telangiectasia",
          "cerebello-oculocutaneous telangiectasia",
          "immunodeficiency with ataxia telangiectasia"
        ],
        "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"
          }
        ],
        "definition": "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008840"
    },
    {
      "id": 11217,
      "label": "combined immunodeficiency due to ZAP70 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111943",
          "GARD:0000387",
          "MEDGEN:419767",
          "MESH:C536722",
          "NANDO:1200327",
          "NANDO:2200700",
          "OMIM:269840",
          "Orphanet:911",
          "SCTID:716378008",
          "UMLS:C2931299",
          "icd11.foundation:1718367094"
        ],
        "synonyms": [
          "zeta-associated-protein 70 deficiency",
          "IMD48",
          "STCD",
          "ZAP-70 deficiency",
          "immunodeficiency 48",
          "selective T-cell defect",
          "severe combined immunodeficiency due to ZAP70 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010023"
    },
    {
      "id": 11614,
      "label": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080319",
          "GARD:0010907",
          "MEDGEN:477076",
          "NCIT:C126336",
          "OMIM:300853",
          "Orphanet:317476",
          "SCTID:711481001",
          "UMLS:C3275445"
        ],
        "synonyms": [
          "Cid due to MAGT1 deficiency",
          "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",
          "XMEN",
          "combined immunodeficiency due to MAGT1 deficiency",
          "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive",
          "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia",
          "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia",
          "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010455"
    },
    {
      "id": 11671,
      "label": "combined immunodeficiency due to moesin deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112001",
          "GARD:0017939",
          "MEDGEN:1799546",
          "OMIM:300988",
          "Orphanet:504530",
          "UMLS:C5568123"
        ],
        "synonyms": [
          "CID due to Moesin deficiency",
          "IMD50",
          "MSN-related combined immunodeficiency",
          "X-linked Moesin-associated immunodeficiency",
          "immunodeficiency 50",
          "immunodeficiency type 50",
          "immunodeficiency 50, X-linked recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010514"
    },
    {
      "id": 11675,
      "label": "Wiskott-Aldrich syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        16075,
        16218,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9169",
          "GARD:0007895",
          "ICD10CM:D82.0",
          "ICD9:279.12",
          "MEDGEN:21921",
          "MESH:D014923",
          "MedDRA:10047992",
          "NANDO:1200330",
          "NANDO:2200704",
          "NCIT:C3448",
          "OMIM:301000",
          "Orphanet:906",
          "SCTID:36070007",
          "UMLS:C0043194",
          "icd11.foundation:168952525"
        ],
        "synonyms": [
          "WAS",
          "Wiskott Aldrich syndrome",
          "Wiskott-Aldrich syndrome",
          "Wiskott-Aldrich syndrome 1",
          "Wiskott-Aldrich syndrome, X-linked recessive",
          "eczema-thrombocytopenia-immunodeficiency syndrome",
          "immunodeficiency 2",
          "Aldrich syndrome",
          "Imd 2",
          "eczema thrombocytopenia immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010518"
    },
    {
      "id": 12578,
      "label": "MHC class I deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060009",
          "GARD:0009548",
          "MEDGEN:346868",
          "NANDO:1200328",
          "NANDO:2200701",
          "OMIMPS:604571",
          "Orphanet:34592",
          "SCTID:725136003",
          "UMLS:C1858266",
          "icd11.foundation:489749747"
        ],
        "synonyms": [
          "Bare lymphocyte syndrome type 1",
          "immunodeficiency by defective expression of HLA class 1",
          "immunodeficiency by defective expression of HLA class type 1",
          "BARE lymphocyte syndrome, type I",
          "BLS type 1",
          "Bare lymphocyte syndrome, type 1",
          "Bls, type 1",
          "HLA Class 1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011476"
    },
    {
      "id": 14946,
      "label": "combined immunodeficiency due to STK4 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017430",
          "MEDGEN:766857",
          "OMIM:614868",
          "Orphanet:314689",
          "UMLS:C3553943"
        ],
        "synonyms": [
          "CID due to STK4 deficiency",
          "MST1 deficiency",
          "STK4 deficiency",
          "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations",
          "TIIAC",
          "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013934"
    },
    {
      "id": 15203,
      "label": "combined immunodeficiency due to MALT1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111988",
          "GARD:0017647",
          "MEDGEN:815913",
          "OMIM:615468",
          "Orphanet:397964",
          "UMLS:C3809583"
        ],
        "synonyms": [
          "combined immunodeficiency due to MALT1 deficiency",
          "immunodeficiency type 12",
          "IMD12",
          "immunodeficiency 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014197"
    },
    {
      "id": 15273,
      "label": "combined immunodeficiency due to OX40 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111935",
          "GARD:0017710",
          "MEDGEN:816383",
          "OMIM:615593",
          "Orphanet:431149",
          "SCTID:766879006",
          "UMLS:C3810053"
        ],
        "synonyms": [
          "combined immunodeficiency with childhood-onset Kaposi sarcoma",
          "combined immunodeficiency with impaired immunity to HHV-8",
          "combined immunodeficiency with impaired immunity to human herpes virus 8",
          "immunodeficiency type 16",
          "IMD16",
          "OX40 deficiency",
          "immunodeficiency 16"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014268"
    },
    {
      "id": 15281,
      "label": "combined immunodeficiency due to CD3gamma deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060018",
          "DOID:0111973",
          "GARD:0017046",
          "MEDGEN:816437",
          "OMIM:615607",
          "Orphanet:169082",
          "SCTID:725135004",
          "UMLS:C3810107"
        ],
        "synonyms": [
          "CD3 deficiency",
          "CD3-gamma deficiency",
          "CD3gamma deficiency",
          "IMD17",
          "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive",
          "combined immunodeficiency due to CD3gamma deficiency",
          "immunodeficiency 17",
          "immunodeficiency type 17"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014276"
    },
    {
      "id": 15393,
      "label": "combined immunodeficiency due to CTPS1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111938",
          "GARD:0017696",
          "MEDGEN:863054",
          "OMIM:615897",
          "Orphanet:420573",
          "SCTID:763623001",
          "UMLS:C4014617"
        ],
        "synonyms": [
          "CTPS1-related combined immunodeficiency",
          "SCID due to CTPS1 deficiency",
          "immunodeficiency type 24",
          "IMD24",
          "immunodeficiency 24"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014391"
    },
    {
      "id": 16459,
      "label": "combined immunodeficiency due to CRAC channel dysfunction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017048",
          "MEDGEN:929240",
          "Orphanet:169090",
          "SCTID:717811007",
          "UMLS:C4303571",
          "icd11.foundation:1641826886"
        ],
        "synonyms": [
          "immune dysfunction due to T-cell inactivation due to calcium entry defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015695"
    },
    {
      "id": 16628,
      "label": "severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:627",
          "GARD:0007628",
          "HP:0004430",
          "MEDGEN:88328",
          "MESH:D016511",
          "MedDRA:10069566",
          "NCIT:C3472",
          "NORD:1706",
          "Orphanet:183660",
          "SCTID:31323000",
          "UMLS:C0085110",
          "icd11.foundation:963193284"
        ],
        "synonyms": [
          "SCID",
          "severe combined immunodeficiency",
          "severe combined immunodeficiency (disease)",
          "severe combined immunodeficiency disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells."
      },
      "child_count": 11,
      "reference_id": "MONDO:0015974"
    },
    {
      "id": 18758,
      "label": "non-SCID combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842865",
          "Orphanet:480549",
          "UMLS:C5680098"
        ],
        "synonyms": [
          "non-SCID",
          "non-severe combined immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0018814"
    },
    {
      "id": 22892,
      "label": "combined immunodeficiency due to RELA haploinsufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022392",
          "MEDGEN:1843216",
          "Orphanet:596759",
          "UMLS:C5680288"
        ],
        "synonyms": [
          "CID due to RELA haploinsufficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035694"
    },
    {
      "id": 23410,
      "label": "combined immunodeficiency due to GINS1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111993",
          "GARD:0017941",
          "MEDGEN:1799555",
          "OMIM:617827",
          "Orphanet:505227",
          "UMLS:C5568132"
        ],
        "synonyms": [
          "CID due to GINS1 deficiency",
          "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia",
          "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia",
          "IMD55",
          "immunodeficiency 55"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044725"
    },
    {
      "id": 24683,
      "label": "combined immunodeficiency syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028009"
        ],
        "synonyms": [
          "CID syndrome",
          "combined immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A combined immunodeficiency in which other clinical features are present in other organ systems in addition to immunodeficiency."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700289"
    },
    {
      "id": 24834,
      "label": "combined immunodeficiency due to POLE2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026446"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any combined immunodeficiency due to a deficiency in the POLE2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800128"
    },
    {
      "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"
    },
    {
      "id": 26154,
      "label": "combined immunodeficiency due to TBX1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027409",
          "MEDGEN:1876546",
          "Orphanet:685017",
          "UMLS:C6012347"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975891"
    },
    {
      "id": 26261,
      "label": "RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:692812"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0979261"
    },
    {
      "id": 26270,
      "label": "combined immunodeficiency due to dimerization defective IKAROS mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:695172"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979288"
    },
    {
      "id": 26271,
      "label": "late-onset combined immunodeficiency due to ICOSL deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:695191"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979290"
    },
    {
      "id": 26277,
      "label": "combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:697403"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979315"
    },
    {
      "id": 26278,
      "label": "early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:697414"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979316"
    },
    {
      "id": 26284,
      "label": "combined immunodeficiency with low Ig due to BCL10 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15490,
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699578"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979327"
    },
    {
      "id": 26594,
      "label": "IRF4-related combined immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075,
        24706
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028134"
        ],
        "synonyms": [
          "IRF4-related combined immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A combined immunodeficiency in which the cause of the disease is a variation in the IRF4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1010173"
    },
    {
      "id": 26595,
      "label": "NFATC1-related combined immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028135"
        ],
        "synonyms": [
          "NFATC1 deficiency",
          "NFATC1-related combined immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A combined immunodeficiency in which the cause of the disease is a variation in the NFATC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1010174"
    },
    {
      "id": 26597,
      "label": "POLD3-related combined immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028137"
        ],
        "synonyms": [
          "Polymerase D3 deficiency",
          "POLD3-related combined immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A combined immunodeficiency in which the cause of the disease is a variation in the POLD3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1010176"
    }
  ],
  "roots": [
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}