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Term:
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency (DOID:9001875)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
achondrogenesis type IA  
achondrogenesis type IB  
achondrogenesis type II  
Achondrogenesis, Type 3 
Achondrogenesis, Type 4 
Achondroplasia and Swiss Type Agammaglobulinemia 
Achondroplastic Dwarfism  
adenosine deaminase deficiency  
Baby Rattle Pelvic Dysplasia 
CD3delta deficiency 
CD3epsilon deficiency 
CD3gamma deficiency 
CD3zeta deficiency 
CD45 deficiency 
Combined Cellular and Humoral Immune Defects with Granulomas  
coronin-1A deficiency  
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
HLA Class 1 Deficiency 
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 15B  
immunodeficiency 19  
immunodeficiency 22  
immunodeficiency 24  
immunodeficiency 26  
immunodeficiency 48  
immunodeficiency 9  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
interleukin-7 receptor alpha deficiency 
janus kinase-3 deficiency  
MHC class I deficiency  
MHC class II deficiency  
Omenn syndrome  
pseudoachondroplasia  
Pseudoachondroplastic Dysplasia 2 
recombinase activating gene 1 deficiency 
recombinase activating gene 2 deficiency  
reticular dysgenesis  
Reticuloendotheliosis, X-Linked 
SADDAN  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
Severe Combined Immunodeficiency, Atypical 
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  
thanatophoric dysplasia +   
X-linked severe combined immunodeficiency  

Synonyms
Exact Synonyms: Achondroplasia, So-Called, and Severe Combined Immunodeficiency
Primary IDs: MESH:C565984 ;   RDO:0014475

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.