{
  "id": 5658,
  "label": "inborn error of immunity",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003778",
  "properties": {
    "xrefs": [
      "DOID:612",
      "GARD:0019813",
      "MEDGEN:585013",
      "MESH:D007153",
      "NANDO:1200320",
      "NANDO:2100204",
      "Orphanet:101997",
      "SCTID:58606001",
      "UMLS:C0398686"
    ],
    "synonyms": [
      "IEI",
      "inborn errors of immunity",
      "primary immunodeficiency disease",
      "antibody deficiency syndrome",
      "antibody deficiency syndromes",
      "deficiency syndrome, antibody",
      "deficiency syndrome, immunologic",
      "deficiency syndrome, immunological",
      "deficiency syndromes, antibody",
      "deficiency syndromes, immunologic",
      "deficiency syndromes, immunological",
      "immune deficiency disorder",
      "immunodeficiency syndrome",
      "immunologic deficiency syndrome",
      "immunological deficiency syndrome",
      "immunological deficiency syndromes",
      "primary immunodeficiency",
      "syndrome, antibody deficiency",
      "syndrome, immunologic deficiency",
      "syndrome, immunological deficiency",
      "syndromes, antibody deficiency",
      "syndromes, immunologic deficiency",
      "syndromes, immunological deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 40,
  "parents": [
    {
      "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": 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": 7512,
      "label": "phagocyte bactericidal dysfunction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6569,
        21541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3262",
          "EFO:0007433",
          "GARD:0024253",
          "MEDGEN:14713",
          "MESH:D010585",
          "UMLS:C0031306"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005910"
    },
    {
      "id": 10352,
      "label": "trichohepatoenteric syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6756,
        21247,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111414",
          "GARD:0005258",
          "MEDGEN:347405",
          "OMIMPS:222470",
          "Orphanet:84064",
          "SCTID:703406006",
          "UMLS:C1857276",
          "icd11.foundation:1470910753"
        ],
        "synonyms": [
          "SD/THE",
          "Tricho-hepato-enteric syndrome",
          "Trichohepatoenteric syndrome",
          "Trichohepatoenteric syndrome type 1",
          "phenotypic diarrhea",
          "phenotypic diarrhoea",
          "syndromic diarrhea",
          "syndromic diarrhea/Tricho-hepato-enteric syndrome",
          "syndromic diarrhoea",
          "Syndromatic diarrhea",
          "Syndromatic diarrhoea",
          "THES1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009105"
    },
    {
      "id": 10570,
      "label": "hepatic veno-occlusive disease-immunodeficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714,
        19328
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112254",
          "GARD:0010083",
          "MEDGEN:344659",
          "MESH:C537257",
          "NANDO:1200341",
          "NANDO:2200714",
          "OMIM:235550",
          "Orphanet:79124",
          "SCTID:724361001",
          "UMLS:C1856128",
          "icd11.foundation:712514250"
        ],
        "synonyms": [
          "VODI syndrome",
          "VODI",
          "familial veno-occlusive disease with immunodeficiency",
          "hepatic veno-occlusive disease with immunodeficiency",
          "hepatic venoocclusive disease with immunodeficiency",
          "veno-occlusive disease and immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009338"
    },
    {
      "id": 10691,
      "label": "immunodeficiency with defective T-cell response to interleukin 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024673",
          "MEDGEN:340948",
          "OMIM:243110",
          "UMLS:C1855735"
        ],
        "synonyms": [
          "immunodeficiency with defective T-cell response to Interleukin type 1",
          "immunodeficiency with defective T-cell response to interleukin 1",
          "Interleukin 1, defective T-cell response to"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009464"
    },
    {
      "id": 10840,
      "label": "Say-Barber-Miller syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5658,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000239",
          "MEDGEN:343258",
          "MESH:C536618",
          "OMIM:251240",
          "Orphanet:3132",
          "SCTID:721903007",
          "UMLS:C1855078"
        ],
        "synonyms": [
          "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome",
          "Say Barber Miller syndrome",
          "microcephaly hypogammaglobulinemia abnormal immunity",
          "microcephaly with chemotactic defect and transient hypogammaglobulinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009620"
    },
    {
      "id": 11255,
      "label": "familial isolated congenital asplenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016944",
          "MEDGEN:151935",
          "MESH:C563028",
          "NANDO:2200775",
          "OMIM:271400",
          "Orphanet:101351",
          "SCTID:726708009",
          "UMLS:C0685889"
        ],
        "synonyms": [
          "ICAS",
          "asplenia, familial",
          "asplenia, isolated congenital",
          "hyposplenia, isolated congenital",
          "splenic hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010066"
    },
    {
      "id": 11419,
      "label": "X-linked immunoneurologic disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        5658,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000274",
          "MEDGEN:341162",
          "MESH:C536743",
          "OMIM:300076",
          "Orphanet:2571",
          "SCTID:719827008",
          "UMLS:C1848144",
          "icd11.foundation:1464555617"
        ],
        "synonyms": [
          "Woods Black Norbury syndrome",
          "Woods-Black-Norbury syndrome",
          "Woods-Black-Norbury syndrome, X-linked dominant",
          "X-linked immunoneurological disorder",
          "immunoneurologic disorder, X-linked",
          "neonatal death immune deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010243"
    },
    {
      "id": 11465,
      "label": "ectodermal dysplasia and immune deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        17032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081077",
          "GARD:0009936",
          "MEDGEN:375786",
          "MESH:C536181",
          "NANDO:1200360",
          "NANDO:2200761",
          "NCIT:C118844",
          "OMIMPS:300291",
          "Orphanet:98813",
          "SCTID:703525006",
          "UMLS:C1846006"
        ],
        "synonyms": [
          "EDA-ID",
          "HED-ID",
          "anhidrotic ectodermal dysplasia with immune deficiency",
          "anhidrotic ectodermal dysplasia with immunodeficiency",
          "hypohidrotic ectodermal dysplasia with immune deficiency",
          "hypohidrotic ectodermal dysplasia with immunodeficiency",
          "Xhm-Ed",
          "ectodermal dysplasia, anhidrotic, with immune deficiency",
          "ectodermal dysplasia, hypohidrotic, with immune deficiency",
          "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0010293"
    },
    {
      "id": 11549,
      "label": "immunodeficiency 33",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        23904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112003",
          "GARD:0012915",
          "MEDGEN:370376",
          "MESH:C536289",
          "MESH:C567070",
          "OMIM:300584",
          "OMIM:300636",
          "Orphanet:319612",
          "UMLS:C1970879"
        ],
        "synonyms": [
          "IKBKG X-linked mendelian susceptibility to mycobacterial diseases",
          "IKBKG invasive pneumococcal disease, recurrent isolated",
          "IMD33",
          "IPD2",
          "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG",
          "immunodeficiency 33, Mycobacteriosis, X-linked",
          "immunodeficiency 33, X-linked recessive",
          "immunodeficiency type 33",
          "immunodeficiency without anhidrotic ectodermal dysplasia",
          "immunodeficiency, isolated",
          "immunodeficiency, pure",
          "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG",
          "invasive pneumococcal disease, recurrent isolated, 2",
          "invasive pneumococcal disease, recurrent isolated, type 2",
          "NEMO deficiency syndrome",
          "NF-kappa B essential modulator deficiency",
          "atypical Mycobacteriosis, familial, X-linked 1",
          "familial X-linked 1 atypical mycobacteriosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010386"
    },
    {
      "id": 11662,
      "label": "immunodeficiency 47",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112002",
          "GARD:0024733",
          "MEDGEN:934786",
          "OMIM:300972",
          "Orphanet:692790",
          "UMLS:C4310819"
        ],
        "synonyms": [
          "ATP6AP1 primary immunodeficiency disease",
          "IMD47",
          "immunodeficiency 47",
          "immunodeficiency 47, X-linked recessive",
          "immunodeficiency 47; IMD47",
          "immunodeficiency type 47",
          "primary immunodeficiency disease caused by mutation in ATP6AP1",
          "immunodeficiency and hepatopathy with or without neurologic features"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010504"
    },
    {
      "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": 11771,
      "label": "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024741",
          "MEDGEN:326624",
          "MESH:C564120",
          "OMIM:308220",
          "UMLS:C1839982"
        ],
        "synonyms": [
          "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein",
          "Gpl115 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010625"
    },
    {
      "id": 11855,
      "label": "properdin deficiency, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111768",
          "GARD:0004513",
          "ICD9:279.8",
          "MEDGEN:333322",
          "MESH:C537241",
          "NANDO:2200789",
          "OMIM:312060",
          "Orphanet:2966",
          "SCTID:81166004",
          "UMLS:C1839454"
        ],
        "synonyms": [
          "properdin deficiency, X-linked",
          "properdin deficiency, X-linked, X-linked recessive",
          "CFPD",
          "PFD",
          "complement Factor properdin deficiency",
          "properdin P Factor deficiency",
          "properdin deficiency, type 1",
          "properdin deficiency, type 2",
          "properdin deficiency, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010713"
    },
    {
      "id": 14262,
      "label": "combined immunodeficiency with faciooculoskeletal anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        16088,
        24683
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017139",
          "MEDGEN:442377",
          "MESH:C567641",
          "OMIM:613328",
          "Orphanet:221139",
          "UMLS:C2750068"
        ],
        "synonyms": [
          "Roifman-Chitayat syndrome",
          "Roifman-Chitayat syndrome, digenic",
          "ROIFMAN-Chitayat syndrome",
          "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013226"
    },
    {
      "id": 14604,
      "label": "recurrent infections associated with rare immunoglobulin isotypes deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017086",
          "MEDGEN:481454",
          "MESH:C564131",
          "NANDO:2200719",
          "OMIM:614102",
          "Orphanet:183675",
          "UMLS:C3279824"
        ],
        "synonyms": [
          "IgG subclass deficiency with IgA subclass deficiency",
          "isolated IgG subclass deficiency",
          "kappa-chain deficiency",
          "recurrent infections associated with rare immunoglobulin isotypes deficiency",
          "IGKCD",
          "IMMUNOGLOBULIN kappa LIGHT chain deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013576"
    },
    {
      "id": 14964,
      "label": "immunodeficiency 28",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111995",
          "GARD:0024963",
          "MEDGEN:862384",
          "OMIM:614889",
          "UMLS:C4013947"
        ],
        "synonyms": [
          "IFNGR2 primary immunodeficiency disease",
          "immunodeficiency 28",
          "immunodeficiency type 28",
          "primary immunodeficiency disease caused by mutation in IFNGR2",
          "IMD28",
          "Ifngr2 deficiency",
          "immunodeficiency 28, Mycobacteriosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013953"
    },
    {
      "id": 15317,
      "label": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111941",
          "GARD:0017732",
          "MEDGEN:816672",
          "OMIM:615707",
          "Orphanet:437552",
          "UMLS:C3810342"
        ],
        "synonyms": [
          "CD16 deficiency",
          "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity",
          "immunodeficiency type 20",
          "IMD20",
          "immunodeficiency 20"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014313"
    },
    {
      "id": 15490,
      "label": "immunodeficiency 37",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111939",
          "GARD:0024994",
          "MEDGEN:863632",
          "OMIM:616098",
          "UMLS:C4015195"
        ],
        "synonyms": [
          "BCL10 primary immunodeficiency disease",
          "combined immunodeficiency due to BCL10 deficiency",
          "immunodeficiency 37",
          "immunodeficiency type 37",
          "primary immunodeficiency disease caused by mutation in BCL10",
          "IMD37"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0014491"
    },
    {
      "id": 15595,
      "label": "immunodeficiency 39",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111969",
          "GARD:0025005",
          "ICD10CM:D84.8",
          "MEDGEN:904167",
          "OMIM:616345",
          "Orphanet:574918",
          "SCTID:1269234000",
          "UMLS:C4225358"
        ],
        "synonyms": [
          "IRF7 primary immunodeficiency disease",
          "immunodeficiency 39",
          "immunodeficiency type 39",
          "predisposition to severe viral infection due to IRF7 deficiency",
          "primary immunodeficiency disease caused by mutation in IRF7",
          "IMD39"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014597"
    },
    {
      "id": 15641,
      "label": "BENTA disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013339",
          "MEDGEN:1641265",
          "OMIM:616452",
          "Orphanet:464336",
          "UMLS:C4551967"
        ],
        "synonyms": [
          "B-cell expansion with NF-kB and T-cell anergy disease",
          "B-cell expansion with NFKB and T-cell anergy",
          "BENTA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014645"
    },
    {
      "id": 15708,
      "label": "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111975",
          "GARD:0017711",
          "MEDGEN:904009",
          "NANDO:2200770",
          "OMIM:616636",
          "Orphanet:431166",
          "UMLS:C4225260"
        ],
        "synonyms": [
          "IMD44",
          "immunodeficiency 44",
          "immunodeficiency type 44",
          "primary immunodeficiency with post-MMR vaccine viral infection"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014715"
    },
    {
      "id": 15958,
      "label": "immunodeficiency 49",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        22249
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111979",
          "GARD:0025043",
          "MEDGEN:934623",
          "OMIM:617237",
          "UMLS:C4310656"
        ],
        "synonyms": [
          "BCL11B primary immunodeficiency disease",
          "IMD49",
          "immunodeficiency 49; IMD49",
          "immunodeficiency type 49",
          "primary immunodeficiency disease caused by mutation in BCL11B",
          "SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities",
          "severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014981"
    },
    {
      "id": 16161,
      "label": "chronic mucocutaneous candidiasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2058",
          "GARD:0001077",
          "HP:0002728",
          "MEDGEN:2426",
          "MESH:D002178",
          "MedDRA:10009007",
          "NANDO:1200363",
          "NANDO:2200764",
          "NCIT:C34444",
          "OMIMPS:114580",
          "Orphanet:1334",
          "SCTID:234568006",
          "UMLS:C0006845",
          "icd11.foundation:2120780687"
        ],
        "synonyms": [
          "CANDF",
          "CMC",
          "chronic mucocutaneous candidiasis",
          "chronic mucocutaneous candidiasis (disease)",
          "familial CMC",
          "familial candidiasis",
          "familial chronic mucocutaneous candidiasis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0015279"
    },
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714,
        16354
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006589",
          "ICD9:238.79",
          "MEDGEN:78797",
          "MedDRA:10070904",
          "OMIMPS:267700",
          "Orphanet:540",
          "SCTID:398250003",
          "UMLS:C0272199"
        ],
        "synonyms": [
          "familial hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic syndrome",
          "primary hemophagocytic lymphohistiocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015541"
    },
    {
      "id": 16461,
      "label": "immunoglobulin heavy chain deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020111",
          "ICD9:279.03",
          "MEDGEN:98309",
          "Orphanet:169110",
          "SCTID:234539005",
          "UMLS:C0398692",
          "icd11.foundation:960006636"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0015697"
    },
    {
      "id": 16471,
      "label": "immuno-osseous dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020115",
          "MEDGEN:609410",
          "Orphanet:169349",
          "SCTID:254067002",
          "UMLS:C0432218",
          "icd11.foundation:1948303413"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015708"
    },
    {
      "id": 17033,
      "label": "lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060704",
          "GARD:0020633",
          "MEDGEN:6162",
          "MESH:D008232",
          "NCIT:C9308",
          "OMIMPS:308240",
          "Orphanet:238510",
          "SCTID:277466009",
          "UMLS:C0024314"
        ],
        "synonyms": [
          "lymphoproliferative disorder",
          "lymphoproliferative syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016537"
    },
    {
      "id": 17037,
      "label": "IL10-related early-onset inflammatory bowel disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6965,
        7203,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013016",
          "MEDGEN:1661450",
          "NANDO:2200446",
          "Orphanet:238569",
          "UMLS:C4749850"
        ],
        "synonyms": [
          "IL10-related early-onset IBD",
          "IL10-related early-onset inflammatory bowel disease",
          "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome",
          "autosomal recessive early-onset IBD",
          "autosomal recessive early-onset inflammatory bowel disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016542"
    },
    {
      "id": 18125,
      "label": "T-cell immunodeficiency with epidermodysplasia verruciformis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017483",
          "MEDGEN:1648416",
          "Orphanet:324294",
          "UMLS:C4749500"
        ],
        "synonyms": [
          "T-cell immunodeficiency due to RHOH deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017925"
    },
    {
      "id": 18799,
      "label": "Aicardi-Goutieres syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        7611,
        18952,
        21247,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050629",
          "GARD:0000575",
          "ICD9:333.0",
          "MEDGEN:97953",
          "MESH:C535607",
          "NANDO:1200996",
          "NANDO:2100244",
          "NANDO:2200893",
          "NORD:111728",
          "OMIMPS:225750",
          "Orphanet:51",
          "SCTID:230312006",
          "UMLS:C0393591"
        ],
        "synonyms": [
          "Aicardi Goutieres syndrome",
          "Aicardi-Goutières Syndrome",
          "Cree encephalitis",
          "encephalopathy with basal ganglia calcification",
          "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid",
          "AGS",
          "Aicardi-Goutières syndrome",
          "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis",
          "pseudotoxoplasmosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis."
      },
      "child_count": 50,
      "reference_id": "MONDO:0018866"
    },
    {
      "id": 22760,
      "label": "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022204",
          "MEDGEN:1799956",
          "Orphanet:529977",
          "UMLS:C5568533"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033968"
    },
    {
      "id": 22761,
      "label": "inflammatory bowel disease-recurrent sinopulmonary infections syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022205",
          "MEDGEN:1799955",
          "Orphanet:529980",
          "UMLS:C5568532"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033969"
    },
    {
      "id": 23963,
      "label": "A20 haploinsufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026086",
          "MEDGEN:1845429",
          "NANDO:1200997",
          "NANDO:2200458",
          "UMLS:C5849639"
        ],
        "synonyms": [
          "HA20"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100222"
    },
    {
      "id": 25174,
      "label": "NK cell deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080709",
          "GARD:0026592",
          "MEDGEN:1644714",
          "UMLS:C4693357"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0850199"
    },
    {
      "id": 25175,
      "label": "T cell and NK cell immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080710",
          "GARD:0026593"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0850200"
    },
    {
      "id": 25242,
      "label": "dendritic cell deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111963",
          "GARD:0026633",
          "MEDGEN:1656300",
          "UMLS:C4746814"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells."
      },
      "child_count": 0,
      "reference_id": "MONDO:0850812"
    },
    {
      "id": 26242,
      "label": "immunodysregulation with variable immunodeficiency and autoimmunity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028109",
          "MEDGEN:1876466",
          "OMIM:621233",
          "UMLS:C6012736"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979233"
    },
    {
      "id": 26285,
      "label": "immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699590"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979328"
    }
  ],
  "roots": [
    {
      "id": 6778,
      "label": "immune system disorder"
    }
  ]
}