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Ontology Browser

Term:
hyperimmunoglobulin syndrome (DOID:2959)
Annotations: Rat: (16) Mouse: (15) Human: (16) Chinchilla: (15) Bonobo: (16) Dog: (15) Squirrel: (15) Pig: (16)
Parent Terms Term With Siblings Child Terms
B cell deficiency +     
genetic disease +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
agammaglobulinemia +   
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Aquaporin 1 Deficiency  
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
cherubism +   
chromosomal disease +   
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
Dwarfism +   
Epilepsy Telangiectasia 
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
FTDALS3  
FTDALS4  
Genetic Skin Diseases +   
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hyperimmunoglobulin syndrome +   
A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
hypogonadotropic hypogonadism 5 with or without anosmia +   
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
immunoglobulin alpha deficiency +   
immunoglobulin beta deficiency 
inherited blood coagulation disease +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kartagener syndrome  
lambda 5 deficiency 
Laminopathies  
Lennox-Gastaut syndrome  
Marfan syndrome +   
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
Parotidomegaly, Hereditary Bilateral 
platelet-type bleeding disorder 10  
polycystic kidney disease +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
pulmonary alveolar microlithiasis  
RASopathies  
Rh deficiency syndrome  
Sacral Agenesis with Vertebral Anomalies  
selective IgA deficiency disease 
selective IgE deficiency disease 
selective IgG deficiency disease +   
selective IgM deficiency disease 
selective immunoglobulin deficiency disease +   
yellow nail syndrome +  

Synonyms
Exact Synonyms: HIGM ;   hyper-IgM immunodeficiency syndrome ;   hyper-IgM immunodeficiency syndromes ;   hyper-IgM syndrome ;   hyper-IgM syndromes ;   immunodeficiency with hyper-IgM ;   immunodeficiency with hyper-IgM syndrome
Primary IDs: MESH:D053306
Alternate IDs: RDO:0007614
Xrefs: NCI:C27579 ;   OMIM:PS308230
Definition Sources: https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579

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