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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 16035
    syndrome 7010
      primary immunodeficiency disease 2346
        Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant 1
        Antibody Deficiency due to Defect in CD19 0
        Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
        Autoinflammation, Immunde Dysregulation, and Eosinophilia 1
        B cell deficiency + 88
        C1q Deficiency 3
        C9 Deficiency with Dermatomyositis 0
        CD8 Deficiency, Familial 2
        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 + 10
        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
        Hepatic Venoocclusive Disease with Immunodeficiency 2
        Hypoglobulinemia and Absent B Cells 0
        IMMUNODEFICIENCY 15 + 14
        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 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
        Lymphoid System Deterioration, Progressive 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
        Riddle syndrome 1
        Roifman Syndrome 1
        Roifman-Chitayat Syndrome 0
        Schimke immuno-osseous dysplasia 1
        Splenic Hypoplasia 4
        T Cell Immunodeficiency Primary 1
        T cell and NK cell immunodeficiency + 4
        T cell deficiency + 10
        T-Cell OKT4 Deficiency 1
        Thumb Agenesis, Short Stature, and Immunodeficiency 0
        Tuftsin Deficiency 0
        WHIM syndrome 2
        X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 0
        ataxia telangiectasia + 17
        autoimmune disease + 1665
        autosomal dominant familial periodic fever 2
        cartilage-hair hypoplasia 1
        combined immunodeficiency + 147
        complement deficiency + 29
        dendritic cell deficiency + 1
        epidermodysplasia verruciformis + 5
        familial cold autoinflammatory syndrome + 4
        human immunodeficiency virus infectious disease + 180
        immunodeficiency 18 1
        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 1
        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 + 56
        lymphoproliferative syndrome + 678
        phagocyte bactericidal dysfunction + 31
        sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Immune & Inflammatory Diseases 3518
        immune system disease 2931
          primary immunodeficiency disease 2346
            Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant 1
            Antibody Deficiency due to Defect in CD19 0
            Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
            Autoinflammation, Immunde Dysregulation, and Eosinophilia 1
            B cell deficiency + 88
            C1q Deficiency 3
            C9 Deficiency with Dermatomyositis 0
            CD8 Deficiency, Familial 2
            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 + 10
            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
            Hepatic Venoocclusive Disease with Immunodeficiency 2
            Hypoglobulinemia and Absent B Cells 0
            IMMUNODEFICIENCY 15 + 14
            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 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
            Lymphoid System Deterioration, Progressive 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
            Riddle syndrome 1
            Roifman Syndrome 1
            Roifman-Chitayat Syndrome 0
            Schimke immuno-osseous dysplasia 1
            Splenic Hypoplasia 4
            T Cell Immunodeficiency Primary 1
            T cell and NK cell immunodeficiency + 4
            T cell deficiency + 10
            T-Cell OKT4 Deficiency 1
            Thumb Agenesis, Short Stature, and Immunodeficiency 0
            Tuftsin Deficiency 0
            WHIM syndrome 2
            X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 0
            ataxia telangiectasia + 17
            autoimmune disease + 1665
            autosomal dominant familial periodic fever 2
            cartilage-hair hypoplasia 1
            combined immunodeficiency + 147
            complement deficiency + 29
            dendritic cell deficiency + 1
            epidermodysplasia verruciformis + 5
            familial cold autoinflammatory syndrome + 4
            human immunodeficiency virus infectious disease + 180
            immunodeficiency 18 1
            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 1
            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 + 56
            lymphoproliferative syndrome + 678
            phagocyte bactericidal dysfunction + 31
            sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
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