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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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Accession:DOID:612 term browser browse the term
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: 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_id: MESH:D000081207
 alt_id: MESH:D007153;   OMIM:242850
 xref: ICD10CM:D84.9;   ICD9CM:279.3;   NCI:C3131;   NCI:C39725;   OMIM:PS300755
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 17205
        syndrome 8125
          primary immunodeficiency disease 2705
            Antibody Deficiency due to Defect in CD19 0
            Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
            Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
            B cell deficiency + 188
            C1q Deficiency 3
            C9 Deficiency with Dermatomyositis 0
            CD8 Deficiency, Familial 1
            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 + 14
            Ectodermal Dysplasia and Immunodeficiency + 3
            Endotoxin Hyporesponsiveness 1
            Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency 1
            Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
            Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 0
            Fanconi-like syndrome 2
            Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
            Griscelli syndrome + 3
            Hypoglobulinemia and Absent B Cells 0
            IMMUNODEFICIENCY 15 + 17
            IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
            IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
            Immune Deficiency Disease 6
            Immune Deficiency, Familial Variable 0
            Immunodeficiency 67 2
            Immunodeficiency 68 1
            Immunodeficiency 75 1
            Immunodeficiency 76 1
            Immunodeficiency 77 1
            Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
            Immunodeficiency 80 1
            Immunodeficiency 81 1
            Immunodeficiency 82 1
            Immunodeficiency 83 1
            Immunodeficiency 84 1
            Immunodeficiency 85 1
            Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
            Immunodeficiency due to Ficolin 3 Deficiency 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
            MASP2 Deficiency 2
            Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
            NEMO Mutation with Immunodeficiency 0
            NK cell deficiency + 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 1
            Roifman-Chitayat Syndrome 2
            Schimke immuno-osseous dysplasia 1
            Splenic Hypoplasia 4
            T Cell Immunodeficiency Primary 1
            T cell and NK cell immunodeficiency + 4
            T cell deficiency + 43
            T-Cell OKT4 Deficiency 1
            Thumb Agenesis, Short Stature, and Immunodeficiency 0
            Tuftsin Deficiency 0
            WHIM Syndrome 2 1
            WHIM syndrome 2
            X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 0
            ataxia telangiectasia + 100
            autoimmune disease + 1845
            autosomal dominant familial periodic fever 2
            cartilage-hair hypoplasia 1
            combined immunodeficiency + 183
            complement deficiency + 32
            dendritic cell deficiency + 1
            epidermodysplasia verruciformis + 5
            familial Behcet-like autoinflammatory syndrome 1
            familial cold autoinflammatory syndrome + 6
            hepatic venoocclusive disease with immunodeficiency 2
            human immunodeficiency virus infectious disease + 198
            immunodeficiency 18 33
            immunodeficiency 20 1
            immunodeficiency 21 1
            immunodeficiency 27A 1
            immunodeficiency 27B 1
            immunodeficiency 28 4
            immunodeficiency 29 1
            immunodeficiency 31A 1
            immunodeficiency 31B 1
            immunodeficiency 31C 2
            immunodeficiency 35 1
            immunodeficiency 38 1
            immunodeficiency 39 40
            immunodeficiency 42 1
            immunodeficiency 43 1
            immunodeficiency 44 2
            immunodeficiency 45 1
            immunodeficiency 47 1
            immunodeficiency 51 1
            immunodeficiency 57 1
            immunodeficiency 65 1
            immunodeficiency 66 1
            immunodeficiency-centromeric instability-facial anomalies syndrome + 10
            immunoglobulin beta deficiency 0
            lymphopenia + 60
            lymphoproliferative syndrome + 778
            phagocyte bactericidal dysfunction + 44
            sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
    Path 2
    Term Annotations click to browse term
      disease 17205
        disease of anatomical entity 16551
          Immune & Inflammatory Diseases 4007
            immune system disease 3367
              primary immunodeficiency disease 2705
                Antibody Deficiency due to Defect in CD19 0
                Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
                Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
                B cell deficiency + 188
                C1q Deficiency 3
                C9 Deficiency with Dermatomyositis 0
                CD8 Deficiency, Familial 1
                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 + 14
                Ectodermal Dysplasia and Immunodeficiency + 3
                Endotoxin Hyporesponsiveness 1
                Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency 1
                Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
                Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 0
                Fanconi-like syndrome 2
                Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 0
                Griscelli syndrome + 3
                Hypoglobulinemia and Absent B Cells 0
                IMMUNODEFICIENCY 15 + 17
                IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
                IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 1
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
                Immune Deficiency Disease 6
                Immune Deficiency, Familial Variable 0
                Immunodeficiency 67 2
                Immunodeficiency 68 1
                Immunodeficiency 75 1
                Immunodeficiency 76 1
                Immunodeficiency 77 1
                Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
                Immunodeficiency 80 1
                Immunodeficiency 81 1
                Immunodeficiency 82 1
                Immunodeficiency 83 1
                Immunodeficiency 84 1
                Immunodeficiency 85 1
                Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
                Immunodeficiency due to Ficolin 3 Deficiency 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
                MASP2 Deficiency 2
                Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
                NEMO Mutation with Immunodeficiency 0
                NK cell deficiency + 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 1
                Roifman-Chitayat Syndrome 2
                Schimke immuno-osseous dysplasia 1
                Splenic Hypoplasia 4
                T Cell Immunodeficiency Primary 1
                T cell and NK cell immunodeficiency + 4
                T cell deficiency + 43
                T-Cell OKT4 Deficiency 1
                Thumb Agenesis, Short Stature, and Immunodeficiency 0
                Tuftsin Deficiency 0
                WHIM Syndrome 2 1
                WHIM syndrome 2
                X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 0
                ataxia telangiectasia + 100
                autoimmune disease + 1845
                autosomal dominant familial periodic fever 2
                cartilage-hair hypoplasia 1
                combined immunodeficiency + 183
                complement deficiency + 32
                dendritic cell deficiency + 1
                epidermodysplasia verruciformis + 5
                familial Behcet-like autoinflammatory syndrome 1
                familial cold autoinflammatory syndrome + 6
                hepatic venoocclusive disease with immunodeficiency 2
                human immunodeficiency virus infectious disease + 198
                immunodeficiency 18 33
                immunodeficiency 20 1
                immunodeficiency 21 1
                immunodeficiency 27A 1
                immunodeficiency 27B 1
                immunodeficiency 28 4
                immunodeficiency 29 1
                immunodeficiency 31A 1
                immunodeficiency 31B 1
                immunodeficiency 31C 2
                immunodeficiency 35 1
                immunodeficiency 38 1
                immunodeficiency 39 40
                immunodeficiency 42 1
                immunodeficiency 43 1
                immunodeficiency 44 2
                immunodeficiency 45 1
                immunodeficiency 47 1
                immunodeficiency 51 1
                immunodeficiency 57 1
                immunodeficiency 65 1
                immunodeficiency 66 1
                immunodeficiency-centromeric instability-facial anomalies syndrome + 10
                immunoglobulin beta deficiency 0
                lymphopenia + 60
                lymphoproliferative syndrome + 778
                phagocyte bactericidal dysfunction + 44
                sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
    paths to the root