{ "id": 22249, "label": "familial severe combined immunodeficiency", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0031520", "properties": { "xrefs": [ "GARD:0027938", "OMIMPS:601457" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 14, "parents": [ { "id": 16628, "label": "severe combined immunodeficiency", "isLeaf": false, "isRoot": false, "parents": [ 16075 ], "type_id": 0, "properties": { "xrefs": [ "DOID:627", "GARD:0007628", "HP:0004430", "MEDGEN:88328", "MESH:D016511", "MedDRA:10069566", "NCIT:C3472", "NORD:1706", "Orphanet:183660", "SCTID:31323000", "UMLS:C0085110", "icd11.foundation:963193284" ], "synonyms": [ "SCID", "severe combined immunodeficiency", "severe combined immunodeficiency (disease)", "severe combined immunodeficiency disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." }, "child_count": 11, "reference_id": "MONDO:0015974" } ], "children": [ { "id": 8481, "label": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070, 19100, 22249 ], "type_id": 0, "properties": { "xrefs": [ "CSP:1560-6660", "DOID:5810", "GARD:0005748", "ICD9:277.2", "MEDGEN:95935", "MESH:C531816", "MedDRA:10066367", "NANDO:1200323", "NANDO:2200696", "NCIT:C3962", "OMIM:102700", "Orphanet:277", "SCTID:44940001", "UMLS:C0392607" ], "synonyms": [ "ADA deficiency", "ADA-SCID", "SCID due to ADA deficiency", "SCID due to ADA deficiency, early-onset", "SCID due to adenosine deaminase deficiency", "adenosine deaminase deficiency", "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism", "adenosine deaminase deficient severe combined immunodeficiency", "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "SCID due to ADA deficiency, delayed onset", "SCID due to ADA deficiency, late-onset", "adenosine deaminase deficiency, partial", "partial ADA deficiency", "severe combined immunodeficiency due to ADA deficiency", "severe combined immunodeficiency due to adenosine deaminase deficiency" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." }, "child_count": 0, "reference_id": "MONDO:0007064" }, { "id": 10120, "label": "MHC class II deficiency", "isLeaf": false, "isRoot": false, "parents": [ 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5812", "GARD:0000824", "MEDGEN:1781237", "MESH:C537079", "NANDO:1200329", "NANDO:2200702", "NCIT:C176823", "NCIT:C3895", "OMIMPS:209920", "Orphanet:572", "SCTID:71904008", "UMLS:C5447452", "icd11.foundation:2021339495" ], "synonyms": [ "HLA class 2-negative SCID", "HLA class 2-negative severe combined immunodeficiency", "MHC class II expression deficiency", "immunodeficiency by defective expression of HLA class type 2", "major histocompatibility complex class II expression deficiency", "BARE lymphocyte syndrome", "BARE lymphocyte syndrome, type II", "BARE lymphocyte syndrome, type II, complementation group B, included", "BARE lymphocyte syndrome, type II, complementation group C, included", "BARE lymphocyte syndrome, type II, complementation group D, included", "BARE lymphocyte syndrome, type II, complementation group E, included", "BLS", "BLS 2", "BLS type II", "BLS, type II", "BLSII", "Bare lymphocyte syndrome", "Bare lymphocyte syndrome 2", "Bare lymphocyte syndrome type 2", "Bare lymphocyte syndrome, type 2", "Bare lymphocyte syndrome, type II", "Bare lymphocyte syndrome, type II, complementation group A", "Bare lymphocyte syndrome, type II, complementation group B", "Bare lymphocyte syndrome, type II, complementation group C", "Bare lymphocyte syndrome, type II, complementation group D", "Bare lymphocyte syndrome, type II, complementation group E", "Bls, type 2", "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included", "SCID, HLA Class 2-negative", "SCID, HLA Class II-negative", "bare lymphocyte syndrome type II", "immunodeficiency by defective expression of HLA class 2", "severe combined immunodeficiency, HLA Class II-negative", "severe combined immunodeficiency, HLA class ii-negative" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." }, "child_count": 5, "reference_id": "MONDO:0008855" }, { "id": 11174, "label": "reticular dysgenesis", "isLeaf": false, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060020", "GARD:0008625", "MEDGEN:124417", "MESH:C538361", "NANDO:1200322", "NANDO:2200695", "NCIT:C27070", "OMIM:267500", "Orphanet:33355", "SCTID:111584000", "UMLS:C0272167" ], "synonyms": [ "AK2 deficiency", "De Vaal disease", "SCID with leukopenia", "congenital aleukocytosis", "generalised haematopoietic hypoplasia", "generalized hematopoietic hypoplasia", "reticular dysgenesis", "severe combined immunodeficiency with leukopenia", "DeVaal disease", "RD", "congenital Aleukia", "haematopoietic hypoplasia, generalised", "hematopoietic hypoplasia, generalized", "reticular Dysgenesia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." }, "child_count": 2, "reference_id": "MONDO:0009973" }, { "id": 11485, "label": "T-B+ severe combined immunodeficiency due to gamma chain deficiency", "isLeaf": true, "isRoot": false, "parents": [ 22249, 23289 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060013", "EFO:0005555", "GARD:0005618", "MEDGEN:220906", "NANDO:1200321", "NANDO:2200694", "NCIT:C4682", "OMIM:300400", "Orphanet:276", "SCTID:203592006", "UMLS:C1279481" ], "synonyms": [ "SCIDX1", "T-B+ SCID due to gamma chain deficiency", "T-B+ severe combined immunodeficiency due to gamma chain deficiency", "T-B+ severe combined immunodeficiency, X-linked", "X-linked severe combined immunodeficiency", "XSCID", "severe combined immunodeficiency, X-linked, X-linked recessive", "SCID, X-linked", "SCIDX", "X-SCID", "X-linked SCID", "immunodeficiency 4", "severe combined immunodeficiency T- B+ due to gamma chain deficiency", "severe combined immunodeficiency T- B+, X-linked", "severe combined immunodeficiency, X-linked", "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." }, "child_count": 0, "reference_id": "MONDO:0010315" }, { "id": 12069, "label": "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 22249, 23289 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016632", "MEDGEN:331474", "MESH:C563440", "OMIM:600802", "Orphanet:35078", "SCTID:718107000", "UMLS:C1833275" ], "synonyms": [ "SCID, autosomal recessive, T-negative/B-positive type", "T-B+ SCID due to JAK3 deficiency", "T-B+ severe combined immunodeficiency due to JAK3 deficiency", "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency", "SCID, T cell-negative, B cell-positive, NK cell-negative", "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency", "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." }, "child_count": 0, "reference_id": "MONDO:0010938" }, { "id": 12212, "label": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "isLeaf": true, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090013", "GARD:0010339", "MEDGEN:321935", "MESH:C563311", "OMIM:601457", "Orphanet:331206", "UMLS:C1832322" ], "synonyms": [ "SCID due to complete RAG1/2 deficiency", "severe combined immunodeficiency, B cell-negative", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "SCID, AR, T-cell negative, B-cell negative, NK cell-positive", "SCID, T cell-negative, B cell-negative, NK cell-positive", "severe combined immunodeficiency due to complete RAG1/2 deficiency", "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." }, "child_count": 0, "reference_id": "MONDO:0011086" }, { "id": 12345, "label": "severe combined immunodeficiency due to DCLRE1C deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070, 20416, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060006", "DOID:0090012", "GARD:0009987", "MEDGEN:355454", "OMIM:602450", "Orphanet:275", "SCTID:715982006", "UMLS:C1865370" ], "synonyms": [ "DCLRE1C severe combined immunodeficiency (disease)", "SCID due to ARTEMIS deficiency", "SCID due to DCLRE1C deficiency", "SCID due to artemis deficiency", "SCID, Athabascan type", "SCID, Athabaskan type", "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C", "severe combined immunodeficiency due to ARTEMIS deficiency", "severe combined immunodeficiency due to DCLRE1C deficiency", "severe combined immunodeficiency due to artemis deficiency", "Athabaskan Severe combined immunodeficiency", "RS-SCID", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation", "artemis deficiency", "severe combined immunodeficiency with sensitivity to ionising radiation", "severe combined immunodeficiency with sensitivity to ionizing radiation", "severe combined immunodeficiency, Athabascan type", "severe combined immunodeficiency, Athabaskan type", "severe combined immunodeficiency, Athabaskan-type", "severe combined immunodeficiency, partial" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." }, "child_count": 0, "reference_id": "MONDO:0011225" }, { "id": 12448, "label": "Omenn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060010", "GARD:0008198", "MEDGEN:398130", "MedDRA:10069097", "NANDO:1200324", "NANDO:2200697", "NCIT:C61240", "OMIM:603554", "Orphanet:39041", "SCTID:722067005", "UMLS:C2700553" ], "synonyms": [ "Omenn syndrome", "combined immunodeficiency with hypereosinophilia", "reticuloendotheliosis familial with eosinophilia", "reticuloendotheliosis, familial, with eosinophilia", "severe combined immunodeficiency with hypereosinophilia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." }, "child_count": 0, "reference_id": "MONDO:0011338" }, { "id": 13226, "label": "immunodeficiency 104", "isLeaf": true, "isRoot": false, "parents": [ 22249, 23289 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090014", "GARD:0018293", "MEDGEN:1801019", "MESH:C563822", "OMIM:608971", "UMLS:C5676890" ], "synonyms": [ "IMD104", "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID", "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive", "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive", "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." }, "child_count": 0, "reference_id": "MONDO:0012163" }, { "id": 13691, "label": "Cernunnos-XLF deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061090", "GARD:0017045", "MEDGEN:369590", "MESH:C566970", "OMIM:611291", "Orphanet:169079", "SCTID:720853005", "UMLS:C1969799" ], "synonyms": [ "Cernunnos XLFD", "Cernunnos deficiency", "Cernunnos-XLF deficiency", "NHEJ1 deficiency", "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome", "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome", "Nhej1 syndrome", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation", "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation", "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation", "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency", "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." }, "child_count": 0, "reference_id": "MONDO:0012650" }, { "id": 15283, "label": "immunodeficiency 18", "isLeaf": true, "isRoot": false, "parents": [ 16467, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060017", "DOID:0111971", "GARD:0018295", "MEDGEN:816457", "OMIM:615615", "UMLS:C3810127" ], "synonyms": [ "CD3-Epsilon deficiency", "IMD18", "immunodeficiency 18", "immunodeficiency 18, SCID variant", "immunodeficiency 18, Severe combined immunodeficiency variant", "immunodeficiency type 18" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." }, "child_count": 0, "reference_id": "MONDO:0014278" }, { "id": 15284, "label": "immunodeficiency 19", "isLeaf": true, "isRoot": false, "parents": [ 16467, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060016", "DOID:0111972", "GARD:0018296", "MEDGEN:816477", "OMIM:615617", "UMLS:C3810147" ], "synonyms": [ "CD3D severe combined immunodeficiency (disease)", "CD3delta deficiency", "immunodeficiency 19", "immunodeficiency type 19", "severe combined immunodeficiency (disease) caused by mutation in CD3D", "CD3-Delta deficiency", "IMD19", "SCID, T cell-negative, B cell-positive, NK cell-positive", "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene." }, "child_count": 0, "reference_id": "MONDO:0014280" }, { "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": 24814, "label": "immunodeficiency 105", "isLeaf": true, "isRoot": false, "parents": [ 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061074", "GARD:0026436", "MEDGEN:1809425", "OMIM:619924", "UMLS:C5677005" ], "synonyms": [ "IMD105", "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene." }, "child_count": 0, "reference_id": "MONDO:0800104" } ], "roots": [ { "id": 16628, "label": "severe combined immunodeficiency" } ] }