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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Acquired Pulmonary Alveolar Proteinosis  
Addison's disease +   
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity  
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis +   
Antibody Deficiency due to Defect in CD19 
antisynthetase syndrome  
ataxia telangiectasia +   
autoimmune disease +   
autoimmune disease of blood +   
autoimmune disease of cardiovascular system +   
autoimmune disease of endocrine system +   
autoimmune disease of exocrine system +   
autoimmune disease of gastrointestinal tract +   
autoimmune disease of musculoskeletal system +   
autoimmune disease of the nervous system +   
autoimmune disease of urogenital tract +   
Autoimmune Hypophysitis 
autoimmune interstitial lung, joint, and kidney disease  
autoimmune lymphoproliferative syndrome +   
Autoimmune Progesterone Dermatitis 
Autoinflammation with Arthritis and Dyskeratosis  
Autoinflammation with Episodic Fever and Lymphadenopathy  
Autoinflammation with Infantile Enterocolitis  
Autoinflammation with Pulmonary and Cutaneous Vasculitis  
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
Autoinflammation, Immune Dysregulation, and Eosinophilia  
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED  
AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME  
autosomal dominant familial periodic fever  
B cell deficiency +   
Behcet's disease  
C1q Deficiency +   
C9 Deficiency with Dermatomyositis 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
Chediak-Higashi syndrome +   
CINCA syndrome  
combined immunodeficiency +   
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
common variable immunodeficiency +   
complement deficiency +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cryopyrin-Associated Periodic Syndromes +   
Davenport Donlan Syndrome 
Deficiency of Interleukin-1 Receptor Antagonist  
Deltaretrovirus Infections +   
dendritic cell deficiency +   
Diabetes Mellitus, Congenital Autoimmune  
ectodermal dysplasia and immune deficiency +   
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency  
Experimental Autoimmune Uveitis +   
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Familial Autoinflammatory Syndrome, with or without Immunodeficiency  
Familial Behcet-Like Autoinflammatory Syndrome +   
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
familial mediterranean fever +   
Fanconi-like syndrome  
Gardner-Diamond Syndrome 
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Griscelli syndrome +   
hepatic venoocclusive disease with immunodeficiency  
human immunodeficiency virus infectious disease +   
Hypoglobulinemia and Absent B Cells 
IgA glomerulonephritis +   
IgG4-related disease  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable  
IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)  
Immunodeficiency 102  
Immunodeficiency 103  
Immunodeficiency 106  
Immunodeficiency 107  
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION  
Immunodeficiency 109  
Immunodeficiency 111  
Immunodeficiency 112  
Immunodeficiency 113  
An autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation. Caused by homozygous mutation in the ARPC5 gene on chromosome 1q25.
Immunodeficiency 114  
Immunodeficiency 115  
Immunodeficiency 117  
Immunodeficiency 118  
IMMUNODEFICIENCY 15 +   
immunodeficiency 18  
immunodeficiency 20  
immunodeficiency 21  
immunodeficiency 27A  
immunodeficiency 27B  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 31A  
immunodeficiency 31B  
immunodeficiency 31C  
immunodeficiency 35  
immunodeficiency 38  
immunodeficiency 39  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 47  
immunodeficiency 51  
immunodeficiency 57  
immunodeficiency 65  
immunodeficiency 66  
Immunodeficiency 67  
Immunodeficiency 68  
Immunodeficiency 75  
Immunodeficiency 76  
Immunodeficiency 77  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
Immunodeficiency 80  
Immunodeficiency 81  
Immunodeficiency 82  
Immunodeficiency 83  
Immunodeficiency 84  
Immunodeficiency 85  
Immunodeficiency 86  
Immunodeficiency 87 and Autoimmunity  
Immunodeficiency 88  
Immunodeficiency 89 and Autoimmunity  
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION  
Immunodeficiency 92  
Immunodeficiency 93  
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
Immunodeficiency 95  
Immunodeficiency 96  
Immunodeficiency 97 with Autoinflammation  
Immunodeficiency 98 with Autoinflammation, X-Linked  
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Jaccoud's syndrome 
Kotzot-Richter Syndrome 
Lichtenstein Syndrome 
Linear IgA Bullous Dermatosis 
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphokine Deficiency 
lymphopenia +   
lymphoproliferative syndrome +   
membranous glomerulonephritis  
mevalonic aciduria  
Multisystem Autoimmune Disease with Facial Dysmorphism  
Multisystem Autoimmune Disease, Infantile-Onset +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
NEMO Mutation with Immunodeficiency 
NK cell deficiency +   
otulipenia  
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 
Periodic Fever, Menstrual Cycle-Dependent  
PFAPA Syndrome  
phagocyte bactericidal dysfunction +   
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Progressive Lymphoid System Deterioration 
proteosome-associated autoinflammatory syndrome +   
Riddle syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome  
Schimke immuno-osseous dysplasia  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Splenic Hypoplasia  
Spondyloenchondrodysplasia  
STING-associated vasculopathy with onset in infancy  
Systemic Autoinflammatory Disease with Vasculitis  
Systemic Autoinflammatory Disease, X-Linked  
T cell and NK cell immunodeficiency +   
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tuftsin Deficiency 
VEXAS syndrome  
WHIM Syndrome +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
YAO SYNDROME  

Synonyms
Exact Synonyms: IMD113 ;   Immunodeficiency 133 with autoimmunity and autoinflammation
Primary IDs: OMIM:620565
Definition Sources: OMIM:620565

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