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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Achondroplasia and Swiss Type Agammaglobulinemia 
adenosine deaminase deficiency  
adrenoleukodystrophy +   
agammaglobulinemia 1  
agammaglobulinemia 10  
agammaglobulinemia 2  
agammaglobulinemia 3  
agammaglobulinemia 4  
agammaglobulinemia 5  
agammaglobulinemia 6  
agammaglobulinemia 7  
Agammaglobulinemia 8 +   
agammaglobulinemia 9  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 
Agammaglobulinemia, Non-Bruton Type, Autosomal Recessive 
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2  
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  
CK syndrome  
combined oxidative phosphorylation deficiency 6  
common variable immunodeficiency +   
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital nongoitrous hypothyroidism 9  
congenital nonspherocytic hemolytic anemia 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome +   
Frenkel Russe Syndrome 
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
glycogen storage disease IXA  
glycogen storage disease IXD  
glycogen storage disease VIII  
Good syndrome 
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
Holoprosencephaly 13, X-linked  
HRPT-related hyperuricemia  
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
immunodeficiency 59  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Lesch-Nyhan syndrome +   
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
nephrogenic syndrome of inappropriate antidiuresis  
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82 
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92 
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Opitz GBBB syndrome  
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
partial androgen insensitivity syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome  
primary ovarian insufficiency 2B  
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
Say-Barber-Miller Syndrome 
severe congenital encephalopathy due to MECP2 mutation  
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spastic paraplegia with deafness 
syndactyly type 8  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 35  
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  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
transient hypogammaglobulinemia +  
Van Esch-O'Driscoll syndrome  
Waisman syndrome  
Wieacker-Wolff syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog 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 atrophic macular degeneration  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyserythropoietic anemia  
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 Hypogammaglobulinemia  
X-linked ichthyosis +   
X-Linked immunodeficiency 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrogenic diabetes insipidus  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spermatogenic failure 7  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia +   
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  

Synonyms
Exact Synonyms: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1 ;   AGMX1 ;   Agammaglobulinemia, X-Linked, Type I ;   BTK deficiency ;   Bruton agammaglobulinemia tyrosine kinase deficiency ;   Bruton disease ;   Bruton's agammaglobulinaemia ;   Bruton's agammaglobulinemia ;   Bruton's sex-linked agammaglobulinemia ;   Bruton's type agammaglobulinemia
Narrow Synonyms: X-linked hypoagammaglobulinemia ;   X-linked hypogammaglobulinemia
Broad Synonyms: BTK-RELATED CONDITION
Primary IDs: MESH:C537409
Alternate IDs: MIM:300755
Xrefs: EFO:0003079 ;   NCI:C3822 ;   ORDO:47
Definition Sources: http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm "DO" "DO"

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