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Ontology Browser

Term:
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (DOID:9003917)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
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  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis +   
antisynthetase syndrome  
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 
axial spondylometaphyseal dysplasia  
B cell and dendritic cell deficiency +   
CINCA syndrome  
combined cellular and humoral immune defects with granulomas  
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
Diabetes Mellitus, Congenital Autoimmune  
Experimental Autoimmune Uveitis +   
familial mediterranean fever +   
Gardner-Diamond Syndrome 
IgA glomerulonephritis +   
IgG4-related disease  
IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immunodeficiency 113  
immunodeficiency 12  
immunodeficiency 33  
immunodeficiency 41  
immunodeficiency 50  
immunodeficiency 55  
immunodeficiency 71  
immunodeficiency 72  
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis  
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia  
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
Immunodeficiency 85  
Immunodeficiency 87 and Autoimmunity  
Immunodeficiency 89 and Autoimmunity  
Jaccoud's syndrome 
Linear IgA Bullous Dermatosis 
membranous glomerulonephritis  
monocyte, dendritic cell, and NK cell deficiency +   
Multisystem Autoimmune Disease with Facial Dysmorphism  
Multisystem Autoimmune Disease, Infantile-Onset +   
Odontochondrodysplasia +   
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 
severe combined immunodeficiency +   
Spondyloenchondrodysplasia  
spondylometaphyseal dysplasia Algerian type 
spondylometaphyseal dysplasia corner fracture type  
spondylometaphyseal dysplasia East African type 
spondylometaphyseal dysplasia Kozlowski type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Spondylometaphyseal Dysplasia Pagnamenta Type  
spondylometaphyseal dysplasia Sedaghatian type  
spondylometaphyseal dysplasia type A4 
spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 
spondylometaphyseal dysplasia with cone-rod dystrophy  
spondylometaphyseal dysplasia with corneal dystrophy  
Spondylometaphyseal Dysplasia, X-Linked 
T cell, B cell, and NK cell deficiency +   
VEXAS syndrome  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  

Synonyms
Exact Synonyms: ROIFMAN IMMUNOSKELETAL SYNDROME ;   SPENCD ;   SPENCDI ;   Spondyloenchondrodysplasia with Immune Dysregulation
Primary IDs: MESH:C564307
Alternate IDs: OMIM:607944

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