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Ontology Browser

Term:
severe combined immunodeficiency (DOID:627)
Annotations: Rat: (51) Mouse: (45) Human: (46) Chinchilla: (44) Bonobo: (44) Dog: (45) Squirrel: (44) Pig: (45)
Parent Terms Term With Siblings Child Terms
Amniotic Band Syndrome +  
asphyxia neonatorum +   
ataxia telangiectasia +   
benign neonatal seizures +   
Birth Injuries +   
Bloom syndrome  
Caffey disease +   
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
CD40 ligand deficiency +   
Cockayne syndrome +   
Colic 
Congenital Hyperinsulinism +   
congenital nystagmus +   
congenital syphilis +  
congenital toxoplasmosis 
Cutis Laxa-Marfanoid Syndrome 
cystic fibrosis +   
DNA ligase IV deficiency  
Fanconi anemia +   
fetal erythroblastosis +   
hydrophthalmos +   
Hyperglycinemia, Transient Neonatal 
Hyperparathyroidism, Neonatal Severe Primary  
ichthyosis +   
immunodeficiency with hyper IgM type 3  
Infantile Hypercalcemia +   
leukocyte adhesion deficiency +   
Li-Fraumeni syndrome +   
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Lynch syndrome +   
meconium aspiration syndrome  
Meconium Ileus  
Mobius syndrome +   
N syndrome 
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
neonatal abstinence syndrome 
Neonatal Alloimmune Thrombocytopenia  
neonatal anemia +   
neonatal diabetes mellitus +   
Neonatal Hyperbilirubinemia +   
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 
Neonatal Inflammatory Skin and Bowel Disease +   
Neonatal Pulmonary Hypertension  
Neonatal Sepsis  
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
ophthalmia neonatorum 
persistent fetal circulation syndrome  
Posttransfusion Purpura  
Premature Infant Diseases +   
purine nucleoside phosphorylase deficiency  
Rothmund-Thomson syndrome +   
Sclerema Neonatorum 
severe combined immunodeficiency +   
Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
thanatophoric dysplasia +   
transient neonatal thrombocytopenia 
umbilical hernia +   
vitamin K deficiency bleeding  
Werner syndrome +   
Wolman disease +   
Woods Black Norbury Syndrome 
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: Bare Lymphocyte Syndrome ;   Familial Reticuloendothelioses ;   Familial Reticuloendotheliosis ;   SCID ;   Severe Combined Immune Deficiency ;   Severe Combined Immunodeficiencies ;   Severe Combined Immunodeficiency Syndrome ;   bare lymphocyte syndromes ;   combined T and B cell inborn immunodeficiency ;   severe combined immunodeficiency disease ;   severe combined immunologic deficiency
Narrow Synonyms: Severe combined immunodeficiency disease, autosomal
Primary IDs: MESH:D016511
Alternate IDs: OMIA:000220 ;   RDO:0000219
Xrefs: GARD:7628 ;   NCI:C3472
Definition Sources: MESH:D016511, http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency, http://www.scid.net/

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