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Term:
X-linked agammaglobulinemia (DOID:14179)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
Achondroplasia and Swiss Type Agammaglobulinemia 
adenosine deaminase deficiency  
adrenoleukodystrophy +   
Agammaglobulinemia 1, Autosomal Recessive  
Agammaglobulinemia 2, Autosomal Recessive  
Agammaglobulinemia 3, Autosomal Recessive  
agammaglobulinemia 4  
agammaglobulinemia 5  
Agammaglobulinemia 6, Autosomal Recessive  
Agammaglobulinemia 7, Autosomal Recessive  
Agammaglobulinemia 8, Autosomal Dominant  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agammaglobulinemia, non-Bruton type  
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 
Agammaglobulinemia, X-Linked, Type 2  
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
autosomal recessive osteopetrosis 7  
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
combined oxidative phosphorylation deficiency 6  
common variable immunodeficiency +   
congenital disorder of glycosylation Iy  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome  
Frenkel Russe Syndrome 
glycogen storage disease IXa  
glycogen storage disease IXd  
Good syndrome 
Granulocytopenia with Immunoglobulin Abnormality 
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
Hypogammaglobulinemia, X-Linked  
hypogonadotropic hypogonadism 1 with or without anosmia  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Kennedy's disease  
Lesch-Nyhan syndrome +   
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
MASA syndrome  
megalocornea +   
MEHMO syndrome  
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Ogden syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome 
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
Say Barber Miller Syndrome 
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spondyloepiphyseal dysplasia tarda +   
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
transient hypogammaglobulinemia +  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. (DO)
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked cone-rod dystrophy 3  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked juvenile retinoschisis 1  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked myopathy with excessive autophagy  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
X-linked recessive hypophosphatemic rickets  
X-Linked Recessive Nephrolithiasis with Renal Failure  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  

Synonyms
Exact Synonyms: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1 ;   AGMX1 ;   Agammaglobulinemia, BTK ;   Agammaglobulinemia, X-Linked, Type I ;   BTK deficiency ;   Bruton agammaglobulinemia tyrosine kinase deficiency ;   Bruton's Agammaglobulinemia ;   Bruton's Sex-Linked Agammaglobulinemia ;   Bruton's agammaglobulinaemia ;   Bruton's type agammaglobulinemia ;   Bruton-type (congenital X-linked) agammaglobulinemia ;   Bruton-type agammaglobulinemia ;   IMD1 ;   XLA ;   agammaglobulinemia, Bruton tyrosine kinase ;   congenital agammaglobulinemia ;   immunodeficiency 1
Narrow Synonyms: X-linked hypoagammaglobulinemia ;   X-linked hypogammaglobulinemia
Primary IDs: MESH:C537409
Alternate IDs: OMIM:300755 ;   RDO:0003249
Xrefs: NCI:C3822 ;   ORDO:47
Definition Sources: http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm

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