{
  "id": 20334,
  "label": "immunodeficiency disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021094",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 95,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6778,
      "label": "immune system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2914",
          "EFO:0000540",
          "ICD9:279",
          "ICD9:279.1",
          "ICD9:279.10",
          "ICD9:279.19",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:279.8",
          "ICD9:279.9",
          "MEDGEN:5759",
          "MESH:D007154",
          "NANDO:1100004",
          "NANDO:2100202",
          "NCIT:C3507",
          "SCTID:414029004",
          "UMLS:C0021053"
        ],
        "synonyms": [
          "disease of immune system",
          "disease or disorder of immune system",
          "disorder of immune system",
          "immune disease",
          "immune disorder",
          "immune dysfunction",
          "immune system disease or disorder",
          "immune system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from an abnormality in the immune system."
      },
      "child_count": 47,
      "reference_id": "MONDO:0005046"
    }
  ],
  "children": [
    {
      "id": 4332,
      "label": "B cell deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6569,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2115",
          "GARD:0023084",
          "ICD9:279.03",
          "MEDGEN:340780",
          "NCIT:C4799",
          "UMLS:C1855067"
        ],
        "synonyms": [
          "B-cell deficiency",
          "deficiency of humoral immunity",
          "immunoglobulin heavy chain deficiency",
          "immunoglobulin heavy chain deletion"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient."
      },
      "child_count": 15,
      "reference_id": "MONDO:0002211"
    },
    {
      "id": 5659,
      "label": "T-cell immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:613",
          "GARD:0005107",
          "MEDGEN:226894",
          "NCIT:C27145",
          "SCTID:402792003",
          "UMLS:C1274233"
        ],
        "synonyms": [
          "T-cell immunodeficiency",
          "T-lymphocyte deficiency (finding)",
          "T-lymphocyte immunodeficiency",
          "T lymphocyte deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective."
      },
      "child_count": 3,
      "reference_id": "MONDO:0003780"
    },
    {
      "id": 5701,
      "label": "complement deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:626",
          "ICD9:279.8",
          "MEDGEN:82898",
          "NANDO:1200364",
          "NANDO:2200776",
          "NCIT:C4691",
          "Orphanet:459345",
          "SCTID:24743004",
          "UMLS:C0272242"
        ],
        "synonyms": [
          "complement activation disease",
          "complement deficiency",
          "disorder of complement activation",
          "immunodeficiency due to a complement cascade component deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited."
      },
      "child_count": 16,
      "reference_id": "MONDO:0003832"
    },
    {
      "id": 7080,
      "label": "myalgic encephalomeyelitis/chronic fatigue syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5798,
        20334,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8544",
          "EFO:0004540",
          "ICD9:780.71",
          "ICD9:780.79",
          "MEDGEN:5130",
          "MESH:D015673",
          "NCIT:C3037",
          "Orphanet:1983",
          "SCTID:51771007",
          "UMLS:C0015674"
        ],
        "synonyms": [
          "CFS",
          "chronic fatigue immune dysfunction syndrome",
          "chronic fatigue syndrome",
          "myalgic encephalitis",
          "myalgic encephalomyelitis",
          "systemic exertion intolerance disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005404"
    },
    {
      "id": 10663,
      "label": "hypoproteinemia, hypercatabolic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111981",
          "GARD:0015185",
          "MEDGEN:343422",
          "MESH:C565476",
          "OMIM:241600",
          "UMLS:C1855796"
        ],
        "synonyms": [
          "hypoproteinemia, hypercatabolic",
          "B2M deficiency",
          "Beta-2-microglobulin deficiency",
          "IMD43",
          "immunodeficiency 43"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009434"
    },
    {
      "id": 11773,
      "label": "X-linked lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        17033,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060705",
          "GARD:0010915",
          "ICD9:238.79",
          "MEDGEN:107498",
          "MedDRA:10068348",
          "NANDO:1200351",
          "NANDO:2200725",
          "NCIT:C61246",
          "NORD:1865",
          "Orphanet:2442",
          "SCTID:77121009",
          "UMLS:C0549463"
        ],
        "synonyms": [
          "Duncan disease",
          "Purtilo syndrome",
          "X linked Lymphoproliferative Syndrome",
          "X-linked lymphoproliferative syndrome",
          "lymphoproliferative syndrome, X-linked",
          "X-linked lymphoproliferative syndrome type 1",
          "XLP1",
          "lymphoproliferative syndrome, X-linked, type 1",
          "SH2D1A-related lymphoproliferative disease, X-linked",
          "X-linked lymphoproliferative disease",
          "X-linked lymphoproliferative syndrome 1",
          "XLP",
          "lymphoproliferative syndrome X-linked 1",
          "lymphoproliferative syndrome, X-linked, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010627"
    },
    {
      "id": 12084,
      "label": "Wiskott-Aldrich syndrome, autosomal dominant form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015325",
          "MEDGEN:1783558",
          "MESH:C563431",
          "OMIM:600903",
          "UMLS:C5542398"
        ],
        "synonyms": [
          "Wiskott-Aldrich syndrome, autosomal dominant form"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010954"
    },
    {
      "id": 12756,
      "label": "immunodeficiency due to CD25 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111968",
          "GARD:0017049",
          "MEDGEN:377894",
          "MESH:C565232",
          "NANDO:2200736",
          "OMIM:606367",
          "Orphanet:169100",
          "UMLS:C1853392",
          "icd11.foundation:1705860123"
        ],
        "synonyms": [
          "Interleukin-2 receptor alpha chain deficiency",
          "immunodeficiency due to CD25 deficiency",
          "CD25 deficiency",
          "IL2RA deficiency",
          "IMD41",
          "Interleukin 2 receptor, alpha, deficiency of",
          "immunodeficiency 41 with lymphoproliferation and autoimmunity"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011664"
    },
    {
      "id": 12965,
      "label": "immunodeficiency 67",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010311",
          "MEDGEN:375137",
          "MESH:C563662",
          "MESH:C564352",
          "NANDO:1200361",
          "NANDO:2200762",
          "OMIM:607676",
          "Orphanet:70592",
          "UMLS:C1843256"
        ],
        "synonyms": [
          "IRAK4 deficiency",
          "immunodeficiency 67",
          "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency",
          "invasive pneumococcal disease, recurrent isolated, 1",
          "invasive pneumococcal disease, recurrent isolated, type 1",
          "IPD1",
          "IRAK-4 deficiency",
          "IRAK4D",
          "Interleukin receptor-associated kinase deficiency",
          "invasive pneumococcal disease, protection against"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011888"
    },
    {
      "id": 13434,
      "label": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111967",
          "GARD:0016695",
          "MEDGEN:351256",
          "MESH:C566492",
          "NANDO:2200771",
          "NCIT:C123729",
          "OMIM:609981",
          "Orphanet:75391",
          "SCTID:724275005",
          "UMLS:C1864947"
        ],
        "synonyms": [
          "mini-chromosome maintenance 4",
          "primary immunodeficiency due to MCM4 deficiency",
          "IMD54",
          "NKGCD",
          "immunodeficiency 54",
          "natural KILLER cell and glucocorticoid deficiency with DNA repair defect",
          "natural Killer cell deficiency, familial isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012383"
    },
    {
      "id": 13722,
      "label": "immunodeficiency 35",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111989",
          "GARD:0017514",
          "MEDGEN:409751",
          "MESH:C566928",
          "OMIM:611521",
          "Orphanet:331226",
          "UMLS:C1969086"
        ],
        "synonyms": [
          "HIES with atypical Mycobacteriosis, autosomal recessive",
          "IMD35",
          "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
          "TYK2 deficiency",
          "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency",
          "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2",
          "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive",
          "immunodeficiency 35",
          "immunodeficiency type 35",
          "susceptibility to infection due to TYK2 deficiency",
          "tyrosine kinase 2 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012682"
    },
    {
      "id": 13879,
      "label": "pyogenic bacterial infections due to MyD88 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012638",
          "MEDGEN:383023",
          "MESH:C567379",
          "NANDO:1200362",
          "NANDO:2200763",
          "OMIM:612260",
          "Orphanet:183713",
          "UMLS:C2677092",
          "icd11.foundation:444523526"
        ],
        "synonyms": [
          "MYD88D",
          "MyD88 deficiency",
          "immunodeficiency 68",
          "pyogenic bacterial infections, recurrent, due to MyD88 deficiency",
          "recurrent pyogenic bacterial infections due to MyD88 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012839"
    },
    {
      "id": 14119,
      "label": "lymphoproliferative syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17033,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060707",
          "GARD:0017979",
          "MEDGEN:765548",
          "MESH:C567815",
          "NANDO:2200734",
          "NCIT:C126344",
          "OMIM:613011",
          "Orphanet:538963",
          "UMLS:C3552634"
        ],
        "synonyms": [
          "ITK deficiency",
          "ITK lymphoproliferative syndrome",
          "LPFS1",
          "lymphoproliferative syndrome 1",
          "lymphoproliferative syndrome caused by mutation in ITK",
          "lymphoproliferative syndrome type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013081"
    },
    {
      "id": 14440,
      "label": "FADD-related immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061060",
          "GARD:0015004",
          "MEDGEN:462412",
          "NANDO:2200741",
          "OMIM:613759",
          "Orphanet:306550",
          "SCTID:723334006",
          "UMLS:C3151062",
          "icd11.foundation:440676168"
        ],
        "synonyms": [
          "FADD-related immunodeficiency",
          "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction",
          "Fadd deficiency",
          "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013408"
    },
    {
      "id": 14459,
      "label": "immunodeficiency 31B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111944",
          "GARD:0017612",
          "MEDGEN:462438",
          "OMIM:613796",
          "Orphanet:391311",
          "UMLS:C3151088"
        ],
        "synonyms": [
          "susceptibility to viral and mycobacterial infections",
          "STAT1 deficiency",
          "immunodeficiency 31B",
          "immunodeficiency type 31B",
          "IMD31B",
          "Stat1 deficiency, autosomal recessive",
          "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013427"
    },
    {
      "id": 14797,
      "label": "Wiskott-Aldrich syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015809",
          "MEDGEN:482631",
          "NCIT:C176820",
          "OMIM:277970",
          "OMIM:614493",
          "UMLS:C3281001"
        ],
        "synonyms": [
          "WIPF1 Wiskott-Aldrich syndrome",
          "Wiskott-Aldrich syndrome 2",
          "Wiskott-Aldrich syndrome caused by mutation in WIPF1",
          "Wiskott-Aldrich syndrome type 2",
          "WAS2",
          "Wipf1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013779"
    },
    {
      "id": 15091,
      "label": "cryptosporidiosis-chronic cholangitis-liver disease syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111982",
          "GARD:0017550",
          "MEDGEN:767601",
          "OMIM:615207",
          "Orphanet:357329",
          "UMLS:C3554687"
        ],
        "synonyms": [
          "cryptosporidiosis-chronic cholangitis-liver disease syndrome",
          "IL21R immunodeficiency",
          "IMD56",
          "immunodeficiency 56"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014082"
    },
    {
      "id": 15232,
      "label": "idiopathic CD4 lymphocytopenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111987",
          "GARD:0012375",
          "MEDGEN:816098",
          "OMIM:615518",
          "Orphanet:228000",
          "SCTID:763713000",
          "UMLS:C3809768",
          "icd11.foundation:1639000446"
        ],
        "synonyms": [
          "immunodeficiency type 13",
          "ICL",
          "IMD13",
          "idiopathic CD4 positive T-lymphocytopenia",
          "idiopathic Cd4 lymphopenia",
          "immunodeficiency 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014226"
    },
    {
      "id": 15355,
      "label": "immunodeficiency 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17978,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111953",
          "GARD:0004331",
          "MEDGEN:862808",
          "MESH:C565684",
          "OMIM:216920",
          "OMIM:615816",
          "Orphanet:443811",
          "UMLS:C4014371"
        ],
        "synonyms": [
          "CID due to PGM3 deficiency",
          "IMD23",
          "PGM3-CDG",
          "PGM3-EXACT congenital disorder of glycosylation",
          "combined immunodeficiency due to PGM3 deficiency",
          "combined inflammatory and immunologic defect",
          "immunodeficiency 23",
          "immunodeficiency type 23",
          "immunodeficiency with hyper IgE and cognitive impairment",
          "immunodeficiency-vasculitis-myoclonus syndrome",
          "phosphoglucomutase 3 deficiency",
          "phosphoglucomutase deficiency type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014353"
    },
    {
      "id": 15633,
      "label": "DOCK2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111951",
          "GARD:0012653",
          "MEDGEN:901370",
          "OMIM:616433",
          "Orphanet:447737",
          "UMLS:C4225328"
        ],
        "synonyms": [
          "immunodeficiency type 40",
          "IMD40",
          "immunodeficiency 40"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014637"
    },
    {
      "id": 15719,
      "label": "immunodeficiency 45",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111994",
          "MEDGEN:901044",
          "OMIM:616669",
          "UMLS:C4225252"
        ],
        "synonyms": [
          "IMD45",
          "immunodeficiency 45",
          "immunodeficiency type 45"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014727"
    },
    {
      "id": 15751,
      "label": "TFRC-related combined immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111948",
          "GARD:0017849",
          "MEDGEN:1799556",
          "OMIM:616740",
          "Orphanet:476113",
          "UMLS:C5568133"
        ],
        "synonyms": [
          "CID due to TFRC deficiency",
          "IMD46",
          "immunodeficiency 46",
          "immunodeficiency type 46",
          "combined immunodeficiency due to TFRC deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014760"
    },
    {
      "id": 16075,
      "label": "combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015131"
    },
    {
      "id": 18633,
      "label": "autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017766",
          "Orphanet:444463"
        ],
        "synonyms": [
          "Evans syndrome associated with primary immunodeficiency",
          "TPPII deficiency",
          "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease",
          "triangle disease",
          "tripeptidyl-peptidase II deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018636"
    },
    {
      "id": 18982,
      "label": "immunodeficiency due to selective anti-polysaccharide antibody deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011903",
          "MEDGEN:1747183",
          "Orphanet:70593",
          "SCTID:234556002",
          "UMLS:C5399780",
          "icd11.foundation:849949348"
        ],
        "synonyms": [
          "specific antibody deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019093"
    },
    {
      "id": 20230,
      "label": "immunodeficiency 57",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111952",
          "MEDGEN:1648306",
          "OMIM:618108",
          "UMLS:C4748212"
        ],
        "synonyms": [
          "IMD57",
          "immunodeficiency 57 with autoinflammation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020849"
    },
    {
      "id": 21257,
      "label": "immunodeficiency 14b, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1787468",
          "OMIM:619281",
          "UMLS:C5543301"
        ],
        "synonyms": [
          "IMD14B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023655"
    },
    {
      "id": 21590,
      "label": "immunodeficiency 98 with autoinflammation, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061068",
          "GARD:0027130",
          "MEDGEN:1805285",
          "OMIM:301078",
          "Orphanet:675628",
          "UMLS:C5676883"
        ],
        "synonyms": [
          "IMD98",
          "X-linked immunodeficiency with autoinflammation",
          "immunodeficiency 98 with autoinflammation, X-linked",
          "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024777"
    },
    {
      "id": 21591,
      "label": "immunodeficiency 102",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061072",
          "GARD:0026075",
          "MEDGEN:1812534",
          "OMIM:301082",
          "Orphanet:653751",
          "UMLS:C5676886"
        ],
        "synonyms": [
          "IMD102",
          "SASH3 deficiency",
          "X-linked CID due to SASH3 deficiency",
          "X-linked combined immunodeficiency due to SASH3 deficiency",
          "immunodeficiency 102"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024781"
    },
    {
      "id": 21742,
      "label": "immunodeficiency 74, COVID-19-related, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112063",
          "MEDGEN:1768360",
          "OMIM:301051",
          "UMLS:C5435745"
        ],
        "synonyms": [
          "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive",
          "IMD74",
          "IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED",
          "TLR7 deficiency",
          "respiratory insufficiency due to SARS-CoV-2 viral infection"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0026767"
    },
    {
      "id": 21800,
      "label": "immunodeficiency 66",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111998",
          "MEDGEN:1717128",
          "OMIM:618847",
          "UMLS:C5394265"
        ],
        "synonyms": [
          "IMD66",
          "IMMUNODEFICIENCY 66",
          "immunodeficiency 66"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030013"
    },
    {
      "id": 21863,
      "label": "immunodeficiency 80 with or without congenital cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061051",
          "MEDGEN:1786417",
          "OMIM:619313",
          "UMLS:C5543344"
        ],
        "synonyms": [
          "IMD80",
          "MCM10 deficiency",
          "immunodeficiency 80 with or without cardiomyopathy",
          "immunodeficiency 80 with or without congenital cardiomyopathy",
          "immunodeficiency with or without congenital cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030266"
    },
    {
      "id": 21872,
      "label": "immunodeficiency 81",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061052",
          "MEDGEN:1788669",
          "OMIM:619374",
          "UMLS:C5543540"
        ],
        "synonyms": [
          "IMD81",
          "T-B+ severe combined immunodeficiency due to SLP76 deficiency",
          "immunodeficiency 81"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030302"
    },
    {
      "id": 21874,
      "label": "immunodeficiency 82 with systemic inflammation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061053",
          "MEDGEN:1781752",
          "OMIM:619381",
          "Orphanet:695807",
          "UMLS:C5543581"
        ],
        "synonyms": [
          "IMD82",
          "immunodeficiency 82 with systemic inflammation",
          "immunodeficiency with systemic inflammation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030308"
    },
    {
      "id": 21889,
      "label": "immunodeficiency 84",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061054",
          "MEDGEN:1794150",
          "OMIM:619437",
          "Orphanet:697385",
          "UMLS:C5561940"
        ],
        "synonyms": [
          "IMD84",
          "immunodeficiency 84",
          "immunodeficiency due to IKZF3 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030333"
    },
    {
      "id": 21912,
      "label": "immunodeficiency 85 and autoimmunity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061055",
          "MEDGEN:1794186",
          "OMIM:619510",
          "UMLS:C5561976"
        ],
        "synonyms": [
          "IMD85"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030428"
    },
    {
      "id": 21921,
      "label": "immunodeficiency 86",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061056",
          "MEDGEN:1794205",
          "OMIM:619549",
          "UMLS:C5561995"
        ],
        "synonyms": [
          "IMD86"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030448"
    },
    {
      "id": 21927,
      "label": "immunodeficiency 87 and autoimmunity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061057",
          "MEDGEN:1794280",
          "OMIM:619573",
          "UMLS:C5562070"
        ],
        "synonyms": [
          "IMD87",
          "immunodeficiency due to DEF6 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030457"
    },
    {
      "id": 21940,
      "label": "immunodeficiency 88",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061058",
          "MEDGEN:1794236",
          "OMIM:619630",
          "UMLS:C5562026"
        ],
        "synonyms": [
          "IMD88",
          "Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030483"
    },
    {
      "id": 21941,
      "label": "immunodeficiency 89 and autoimmunity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061059",
          "MEDGEN:1794237",
          "OMIM:619632",
          "UMLS:C5562027"
        ],
        "synonyms": [
          "IMD89"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030484"
    },
    {
      "id": 21946,
      "label": "immunodeficiency 91 and hyperinflammation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061061",
          "MEDGEN:1794283",
          "OMIM:619644",
          "UMLS:C5562073"
        ],
        "synonyms": [
          "IMD91",
          "immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030491"
    },
    {
      "id": 21949,
      "label": "immunodeficiency 92",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061062",
          "MEDGEN:1794249",
          "OMIM:619652",
          "Orphanet:697394",
          "UMLS:C5562039"
        ],
        "synonyms": [
          "IMD92",
          "immunodeficiency due to REL deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030498"
    },
    {
      "id": 21969,
      "label": "immunodeficiency 93 and hypertrophic cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061063",
          "MEDGEN:1804175",
          "OMIM:619705",
          "Orphanet:693647",
          "UMLS:C5676899"
        ],
        "synonyms": [
          "IMD93",
          "immunodeficiency and hypertrophic cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030528"
    },
    {
      "id": 22002,
      "label": "immunodeficiency 95",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061065",
          "MEDGEN:1802205",
          "OMIM:619773",
          "UMLS:C5676929"
        ],
        "synonyms": [
          "IMD95",
          "immunodeficiency 95"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030692"
    },
    {
      "id": 22003,
      "label": "immunodeficiency 96",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061066",
          "MEDGEN:1810465",
          "OMIM:619774",
          "UMLS:C5676930"
        ],
        "synonyms": [
          "IMD96",
          "immunodeficiency 96",
          "immunodeficiency, autosomal recessive due to LIG1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030693"
    },
    {
      "id": 22019,
      "label": "immunodeficiency 97 with autoinflammation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061067",
          "MEDGEN:1802936",
          "OMIM:619802",
          "UMLS:C5676946"
        ],
        "synonyms": [
          "IMD97",
          "immunodeficiency 97 with autoinflammation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030717"
    },
    {
      "id": 22047,
      "label": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061069",
          "MEDGEN:1801342",
          "OMIM:619846",
          "UMLS:C5676971"
        ],
        "synonyms": [
          "IMD99",
          "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030798"
    },
    {
      "id": 22053,
      "label": "immunodeficiency 101 (varicella zoster virus-specific)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061071",
          "MEDGEN:1810668",
          "OMIM:619872",
          "UMLS:C5676983"
        ],
        "synonyms": [
          "IMD101",
          "immunodeficiency 101 (varicella zoster virus-specific)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030813"
    },
    {
      "id": 22074,
      "label": "immunodeficiency 75",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018194",
          "MEDGEN:1741014",
          "OMIM:619126",
          "Orphanet:664729",
          "UMLS:C5436860"
        ],
        "synonyms": [
          "IMD75",
          "immunodeficiency 75"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030858"
    },
    {
      "id": 22105,
      "label": "immunodeficiency 76",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025655",
          "MEDGEN:1781281",
          "OMIM:619164",
          "Orphanet:647804",
          "UMLS:C5543004"
        ],
        "synonyms": [
          "IMD76",
          "combined immunodeficiency due to FCHO1 deficiency",
          "immunodeficiency 76",
          "immunodeficiency due to FCHO1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030898"
    },
    {
      "id": 22157,
      "label": "immunodeficiency 106, susceptibility to viral infections",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061075",
          "MEDGEN:1804672",
          "OMIM:619935",
          "UMLS:C5677009"
        ],
        "synonyms": [
          "IFNAR1 deficiency",
          "IMD106",
          "immunodeficiency 106, susceptibility to viral infections"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030970"
    },
    {
      "id": 22158,
      "label": "immunodeficiency 78 with autoimmunity and developmental delay",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1785772",
          "OMIM:619220",
          "UMLS:C5543159"
        ],
        "synonyms": [
          "IMD78",
          "TPP2 deficiency",
          "immunodeficiency 78 with autoimmunity and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030971"
    },
    {
      "id": 22160,
      "label": "immunodeficiency 77",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1788976",
          "OMIM:619223",
          "UMLS:C5543173"
        ],
        "synonyms": [
          "IMD77",
          "immunodeficiency 77"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030973"
    },
    {
      "id": 22202,
      "label": "immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061076",
          "MEDGEN:1823965",
          "OMIM:619986",
          "UMLS:C5774192"
        ],
        "synonyms": [
          "IMD107",
          "immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031030"
    },
    {
      "id": 22284,
      "label": "immunodeficiency 15a",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111960",
          "GARD:0018469",
          "MEDGEN:1648385",
          "OMIM:618204",
          "Orphanet:700205",
          "UMLS:C4748694"
        ],
        "synonyms": [
          "IMD15A",
          "IMMUNODEFICIENCY 15A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032599"
    },
    {
      "id": 22386,
      "label": "immunodeficiency 60",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111954",
          "MEDGEN:1681890",
          "OMIM:618394",
          "UMLS:C5193072"
        ],
        "synonyms": [
          "immunodeficiency 60 and autoimmunity",
          "IMD60",
          "IMMUNODEFICIENCY 60",
          "Immunodeficiency and Autoimmunity, Bach2-Related"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032723"
    },
    {
      "id": 22421,
      "label": "immunodeficiency 62",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111991",
          "MEDGEN:1673905",
          "OMIM:618459",
          "Orphanet:696942",
          "UMLS:C5193109"
        ],
        "synonyms": [
          "immunodeficiency 62",
          "IMD62",
          "IMMUNODEFICIENCY 62"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032763"
    },
    {
      "id": 22439,
      "label": "immunodeficiency 63 with lymphoproliferation and autoimmunity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111997",
          "MEDGEN:1682943",
          "OMIM:618495",
          "UMLS:C5193126"
        ],
        "synonyms": [
          "Cd122 Deficiency",
          "IMD63",
          "IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY",
          "Il2Rb Deficiency",
          "Interleukin 2 Receptor, Beta, Deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032782"
    },
    {
      "id": 22460,
      "label": "immunodeficiency 64",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111980",
          "GARD:0016360",
          "MEDGEN:1684716",
          "OMIM:618534",
          "Orphanet:664699",
          "UMLS:C5231402"
        ],
        "synonyms": [
          "IMD64",
          "IMMUNODEFICIENCY 64"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032803"
    },
    {
      "id": 22502,
      "label": "immunodeficiency 65, susceptibility to viral infections",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111978",
          "MEDGEN:1684865",
          "OMIM:618648",
          "UMLS:C5231441"
        ],
        "synonyms": [
          "IMD65",
          "IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032848"
    },
    {
      "id": 22670,
      "label": "immunodeficiency 69",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112006",
          "MEDGEN:1735911",
          "OMIM:618963",
          "Orphanet:699618",
          "UMLS:C5436498"
        ],
        "synonyms": [
          "immunodeficiency 69, mycobacteriosis",
          "IMD69",
          "IMMUNODEFICIENCY 69",
          "Ifng Deficiency, Autosomal Recessive",
          "Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033541"
    },
    {
      "id": 22671,
      "label": "immunodeficiency 70",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112005",
          "MEDGEN:1740270",
          "OMIM:618969",
          "UMLS:C5436501"
        ],
        "synonyms": [
          "IMD70",
          "IMMUNODEFICIENCY 70"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033542"
    },
    {
      "id": 22679,
      "label": "immunodeficiency 72 with autoinflammation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112015",
          "MEDGEN:1749856",
          "OMIM:618982",
          "UMLS:C5436540"
        ],
        "synonyms": [
          "IMD72",
          "IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033551"
    },
    {
      "id": 23106,
      "label": "GATA2 deficiency with susceptibility to MDS/AML",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027059",
          "NCIT:C126349"
        ],
        "synonyms": [
          "GATA2 deficiency",
          "GATA2 deficiency with susceptibility to MDS/AML",
          "GATA2 deficiency/MonoMac syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])."
      },
      "child_count": 2,
      "reference_id": "MONDO:0042982"
    },
    {
      "id": 23293,
      "label": "Shwachman-Diamond syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11037,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015221",
          "MEDGEN:1640046",
          "OMIM:260400",
          "UMLS:C4692625"
        ],
        "synonyms": [
          "SBDS-related Shwachman Diamond syndrome",
          "Shwachman-Diamond syndrome 1",
          "SDS1",
          "Shwachman-Bodian syndrome",
          "Shwachman-Diamond syndrome",
          "lipomatosis of pancreas, congenital",
          "pancreatic insufficiency and bone marrow dysfunction"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044204"
    },
    {
      "id": 23583,
      "label": "immunodeficiency 53",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111992",
          "GARD:0027369",
          "MEDGEN:1612104",
          "OMIM:617585",
          "Orphanet:688594",
          "UMLS:C4539811"
        ],
        "synonyms": [
          "immunodeficiency 53",
          "IMD53"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054696"
    },
    {
      "id": 23584,
      "label": "immunodeficiency 11b with atopic dermatitis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111958",
          "MEDGEN:1627819",
          "NCIT:C176630",
          "OMIM:617638",
          "UMLS:C4539957"
        ],
        "synonyms": [
          "IMD11B",
          "atopic dermatitis, elevated IgE, and eosinophilia",
          "immunodeficiency 11B with ATOPIC dermatitis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054697"
    },
    {
      "id": 23904,
      "label": "IKBKG-related immunodeficiency with or without ectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "NEMO related ID/EDA-ID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100162"
    },
    {
      "id": 24159,
      "label": "FNIP1-associated syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "FNIP1 deficiency",
          "absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome",
          "immunodeficiency with cardiomyopathy and pre-excitation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100432"
    },
    {
      "id": 24696,
      "label": "FASLG-related immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "ALPS-FASLG",
          "Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation",
          "FASLG-related immunodeficiency",
          "TNFSF6-related immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immunodeficiency disease in which the cause of the disease is a variation in the FASLG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700306"
    },
    {
      "id": 24698,
      "label": "TNFRSF9-related immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "41BB deficiency",
          "CD137 deficiency",
          "TNFRSF9-related immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immunodeficiency disease in which the cause of the disease is a variation in the TNFRSF9 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700308"
    },
    {
      "id": 24700,
      "label": "DNAJC21-related Shwachman Diamond syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11037,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028013"
        ],
        "synonyms": [
          "DNAJC21-related Shwachman Diamond syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A Shwachman Diamond syndrome in which the cause of the disease is a variation in the DNAJC21 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700311"
    },
    {
      "id": 24706,
      "label": "IRF4-related immune disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "IRF4 haplosufficiency",
          "IRF4-related immune disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immune disorder in which the cause of the disease is a variation in the interferon activation domain of the IRF4 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700327"
    },
    {
      "id": 24707,
      "label": "PTEN harmartoma tumor syndrome with immune disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "PTEN Deficiency (LOF)",
          "PTEN harmartoma tumor syndrome with immune disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700330"
    },
    {
      "id": 24840,
      "label": "primary immunodeficiency due to calcium channel deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immunodeficiency disease caused by a variation in the CRACR2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800134"
    },
    {
      "id": 24848,
      "label": "chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800142"
    },
    {
      "id": 25110,
      "label": "immune deficiency due to impaired neutrophil phagocytosis and migration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022464",
          "MEDGEN:1843340",
          "Orphanet:619941",
          "UMLS:C5680413"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850067"
    },
    {
      "id": 25616,
      "label": "hatipoglu immunodeficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841075",
          "OMIM:620331",
          "UMLS:C5830439"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957229"
    },
    {
      "id": 25707,
      "label": "immunodeficiency 112",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061079",
          "MEDGEN:1841269",
          "OMIM:620449",
          "UMLS:C5830633"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957535"
    },
    {
      "id": 25770,
      "label": "immunodeficiency 113 with autoimmunity and autoinflammation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051056",
          "MEDGEN:1851770",
          "OMIM:620565",
          "UMLS:C5882711"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957920"
    },
    {
      "id": 25777,
      "label": "immunodeficiency 114, folate-responsive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334,
        26029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061080",
          "GARD:0027152",
          "MEDGEN:1848890",
          "OMIM:620603",
          "UMLS:C5882719"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957955"
    },
    {
      "id": 25782,
      "label": "immunodeficiency 115 with autoinflammation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061081",
          "MEDGEN:1847791",
          "OMIM:620632",
          "UMLS:C5882724"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957981"
    },
    {
      "id": 25797,
      "label": "immunodeficiency 117",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061083",
          "MEDGEN:1848763",
          "OMIM:620668",
          "Orphanet:699615",
          "UMLS:C5882739"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958011"
    },
    {
      "id": 25804,
      "label": "immunodeficiency 118",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061084",
          "MEDGEN:1852539",
          "OMIM:301115",
          "UMLS:C5882665"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958030"
    },
    {
      "id": 25992,
      "label": "immunodeficiency 119",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061085",
          "MEDGEN:1859911",
          "OMIM:620825",
          "UMLS:C5935621"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0970993"
    },
    {
      "id": 25998,
      "label": "immunodeficiency 121 with autoinflammation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061087",
          "MEDGEN:1857174",
          "OMIM:620807",
          "UMLS:C5935616"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971001"
    },
    {
      "id": 26074,
      "label": "immunodeficiency 122",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061088",
          "MEDGEN:1860800",
          "OMIM:620869",
          "UMLS:C5935632"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971151"
    },
    {
      "id": 26084,
      "label": "immunodeficiency 123 with HPV-related verrucosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061089",
          "MEDGEN:1855052",
          "OMIM:620901",
          "UMLS:C5935639"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971177"
    },
    {
      "id": 26093,
      "label": "immunodeficiency 125",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061091",
          "MEDGEN:1874883",
          "OMIM:620926",
          "UMLS:C5975353"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975749"
    },
    {
      "id": 26103,
      "label": "immunodeficiency 126, susceptibility to",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1874892",
          "OMIM:620931",
          "UMLS:C5975362"
        ],
        "synonyms": [
          "combined immunodeficiency due to autosomal recessive pre-TCR alpha deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975761"
    },
    {
      "id": 26122,
      "label": "immunodeficiency 127",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061092",
          "MEDGEN:1874984",
          "OMIM:620977",
          "UMLS:C5975454"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975832"
    },
    {
      "id": 26124,
      "label": "immunodeficiency 128",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061093",
          "MEDGEN:1874993",
          "OMIM:620983",
          "UMLS:C5975463"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975834"
    },
    {
      "id": 26197,
      "label": "immunodeficiency 132b",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061097",
          "MEDGEN:1876493",
          "OMIM:621096",
          "UMLS:C6012695"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976228"
    },
    {
      "id": 26316,
      "label": "immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061096",
          "MEDGEN:1876476",
          "OMIM:621254",
          "UMLS:C6012744"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979570"
    },
    {
      "id": 26362,
      "label": "immunodeficiency 134 (Epstein-Barr virus-specific)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621405"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980729"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6778,
      "label": "immune system disorder"
    }
  ]
}