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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:primary immunodeficiency disease
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Definition:An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (DO)
Synonyms:exact_synonym: PRIMARY IMMUNE DEFICIENCY;   antibody deficiency syndrome;   antibody deficiency syndromes;   hypoimmunity;   immune deficiency disorder;   immunodeficiency syndrome;   immunologic deficiency syndrome;   immunologic deficiency syndromes;   immunological deficiency syndrome;   immunological deficiency syndromes;   inherited immunodeficiency diseases;   primary immunodeficiency diseases;   primary immunodeficiency disorder
 primary_id: MESH:D000081207
 alt_id: MESH:D007153;   MIM:242850
 xref: ICD10CM:D84.9;   ICD9CM:279.3;   MIM:PS300755;   NCI:C3131;   NCI:C39725
For additional species annotation, visit the Alliance of Genome Resources.


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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 15835
        syndrome 10731
          primary immunodeficiency disease 4140
            AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED 1
            Antibody Deficiency due to Defect in CD19 0
            Autoinflammation, Immune Dysregulation, and Eosinophilia 2
            B cell deficiency + 446
            C1q Deficiency + 3
            C9 Deficiency with Dermatomyositis 0
            Cartilage Hair Hypoplasia Like Syndrome 0
            Cd4+ Lymphocyte Deficiency 1
            Combined Inflammatory and Immunologic Defect 0
            Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
            Davenport Donlan Syndrome 0
            Deltaretrovirus Infections + 15
            Endotoxin Hyporesponsiveness 0
            Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency 9
            Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
            Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 0
            Fanconi-like syndrome 2
            Gastrointestinal defects and immunodeficiency syndrome + 5
            Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
            Griscelli syndrome + 7
            Hypoglobulinemia and Absent B Cells 0
            IMMUNODEFICIENCY 15 + 18
            IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
            IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 0
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
            Immune Deficiency Disease 2
            Immune Deficiency, Familial Variable 2
            Immunodeficiency 103 5
            Immunodeficiency 111 1
            Immunodeficiency 126 1
            Immunodeficiency 131 1
            Immunodeficiency 67 2
            Immunodeficiency 68 7
            Immunodeficiency 75 1
            Immunodeficiency 76 1
            Immunodeficiency 77 1
            Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
            Immunodeficiency 83 1
            Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
            Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 0
            Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
            Inosine Phosphorylase Deficiency, Immune Defect Due To 0
            Kotzot-Richter Syndrome 0
            Lichtenstein Syndrome 0
            Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
            Lymphoblastic Transformation, Intrinsic Defect in 0
            Lymphokine Deficiency 0
            Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
            NEMO Mutation with Immunodeficiency 0
            NK cell deficiency + 1
            PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME 1
            Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 0
            Progressive Lymphoid System Deterioration 0
            Riddle syndrome 1
            Roifman Syndrome 2
            Roifman-Chitayat Syndrome 2
            Schimke immuno-osseous dysplasia 1
            Splenic Hypoplasia 3
            T Cell Immunodeficiency Primary 1
            T cell and NK cell immunodeficiency + 7
            T cell deficiency + 110
            T-Cell OKT4 Deficiency 1
            Thumb Agenesis, Short Stature, and Immunodeficiency 0
            Tuftsin Deficiency 0
            WHIM Syndrome + 9
            X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 0
            ataxia telangiectasia + 102
            autoimmune disease + 2084
            autoinflammation, antibody deficiency, and immune dysregulation syndrome 1
            autoinflammatory disease + 406
            cartilage-hair hypoplasia 1
            combined immunodeficiency + 953
            complement deficiency + 50
            dendritic cell deficiency + 1
            ectodermal dysplasia and immune deficiency + 9
            epidermodysplasia verruciformis + 6
            hepatic venoocclusive disease with immunodeficiency 2
            human immunodeficiency virus infectious disease + 198
            immunodeficiency 101 1
            immunodeficiency 106 1
            immunodeficiency 107 1
            immunodeficiency 108 1
            immunodeficiency 109 1
            immunodeficiency 114 1
            immunodeficiency 118 1
            immunodeficiency 127 2
            immunodeficiency 132A 48
            immunodeficiency 132B 1
            immunodeficiency 18 70
            immunodeficiency 20 1
            immunodeficiency 21 38
            immunodeficiency 27A 13
            immunodeficiency 27B 1
            immunodeficiency 28 48
            immunodeficiency 29 1
            immunodeficiency 31A 1
            immunodeficiency 31B 19
            immunodeficiency 31C 2
            immunodeficiency 35 23
            immunodeficiency 38 69
            immunodeficiency 39 56
            immunodeficiency 42 205
            immunodeficiency 43 1
            immunodeficiency 44 2
            immunodeficiency 45 1
            immunodeficiency 47 2
            immunodeficiency 51 35
            immunodeficiency 57 2
            immunodeficiency 65 1
            immunodeficiency 66 1
            immunodeficiency 80 1
            immunodeficiency 81 2
            immunodeficiency 82 1
            immunodeficiency 84 1
            immunodeficiency 85 1
            immunodeficiency 88 1
            immunodeficiency 90 122
            immunodeficiency 91 1
            immunodeficiency 92 1
            immunodeficiency 93 2
            immunodeficiency 95 1
            immunodeficiency 96 1
            immunodeficiency-centromeric instability-facial anomalies syndrome + 14
            immunoglobulin beta deficiency 0
            lymphopenia + 84
            lymphoproliferative syndrome + 1090
            phagocyte bactericidal dysfunction + 181
            sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
    Path 2
    Term Annotations click to browse term
      disease 15835
        disease of anatomical entity 15491
          Immune & Inflammatory Diseases 5237
            immune system disease 4702
              primary immunodeficiency disease 4140
                AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED 1
                Antibody Deficiency due to Defect in CD19 0
                Autoinflammation, Immune Dysregulation, and Eosinophilia 2
                B cell deficiency + 446
                C1q Deficiency + 3
                C9 Deficiency with Dermatomyositis 0
                Cartilage Hair Hypoplasia Like Syndrome 0
                Cd4+ Lymphocyte Deficiency 1
                Combined Inflammatory and Immunologic Defect 0
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
                Davenport Donlan Syndrome 0
                Deltaretrovirus Infections + 15
                Endotoxin Hyporesponsiveness 0
                Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency 9
                Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
                Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 0
                Fanconi-like syndrome 2
                Gastrointestinal defects and immunodeficiency syndrome + 5
                Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
                Griscelli syndrome + 7
                Hypoglobulinemia and Absent B Cells 0
                IMMUNODEFICIENCY 15 + 18
                IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
                IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 0
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
                Immune Deficiency Disease 2
                Immune Deficiency, Familial Variable 2
                Immunodeficiency 103 5
                Immunodeficiency 111 1
                Immunodeficiency 126 1
                Immunodeficiency 131 1
                Immunodeficiency 67 2
                Immunodeficiency 68 7
                Immunodeficiency 75 1
                Immunodeficiency 76 1
                Immunodeficiency 77 1
                Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
                Immunodeficiency 83 1
                Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
                Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 0
                Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
                Inosine Phosphorylase Deficiency, Immune Defect Due To 0
                Kotzot-Richter Syndrome 0
                Lichtenstein Syndrome 0
                Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
                Lymphoblastic Transformation, Intrinsic Defect in 0
                Lymphokine Deficiency 0
                Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
                NEMO Mutation with Immunodeficiency 0
                NK cell deficiency + 1
                PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME 1
                Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 0
                Progressive Lymphoid System Deterioration 0
                Riddle syndrome 1
                Roifman Syndrome 2
                Roifman-Chitayat Syndrome 2
                Schimke immuno-osseous dysplasia 1
                Splenic Hypoplasia 3
                T Cell Immunodeficiency Primary 1
                T cell and NK cell immunodeficiency + 7
                T cell deficiency + 110
                T-Cell OKT4 Deficiency 1
                Thumb Agenesis, Short Stature, and Immunodeficiency 0
                Tuftsin Deficiency 0
                WHIM Syndrome + 9
                X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 0
                ataxia telangiectasia + 102
                autoimmune disease + 2084
                autoinflammation, antibody deficiency, and immune dysregulation syndrome 1
                autoinflammatory disease + 406
                cartilage-hair hypoplasia 1
                combined immunodeficiency + 953
                complement deficiency + 50
                dendritic cell deficiency + 1
                ectodermal dysplasia and immune deficiency + 9
                epidermodysplasia verruciformis + 6
                hepatic venoocclusive disease with immunodeficiency 2
                human immunodeficiency virus infectious disease + 198
                immunodeficiency 101 1
                immunodeficiency 106 1
                immunodeficiency 107 1
                immunodeficiency 108 1
                immunodeficiency 109 1
                immunodeficiency 114 1
                immunodeficiency 118 1
                immunodeficiency 127 2
                immunodeficiency 132A 48
                immunodeficiency 132B 1
                immunodeficiency 18 70
                immunodeficiency 20 1
                immunodeficiency 21 38
                immunodeficiency 27A 13
                immunodeficiency 27B 1
                immunodeficiency 28 48
                immunodeficiency 29 1
                immunodeficiency 31A 1
                immunodeficiency 31B 19
                immunodeficiency 31C 2
                immunodeficiency 35 23
                immunodeficiency 38 69
                immunodeficiency 39 56
                immunodeficiency 42 205
                immunodeficiency 43 1
                immunodeficiency 44 2
                immunodeficiency 45 1
                immunodeficiency 47 2
                immunodeficiency 51 35
                immunodeficiency 57 2
                immunodeficiency 65 1
                immunodeficiency 66 1
                immunodeficiency 80 1
                immunodeficiency 81 2
                immunodeficiency 82 1
                immunodeficiency 84 1
                immunodeficiency 85 1
                immunodeficiency 88 1
                immunodeficiency 90 122
                immunodeficiency 91 1
                immunodeficiency 92 1
                immunodeficiency 93 2
                immunodeficiency 95 1
                immunodeficiency 96 1
                immunodeficiency-centromeric instability-facial anomalies syndrome + 14
                immunoglobulin beta deficiency 0
                lymphopenia + 84
                lymphoproliferative syndrome + 1090
                phagocyte bactericidal dysfunction + 181
                sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
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