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Ontology Browser

Term:
CD40 ligand deficiency (DOID:0060022)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)
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  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital nongoitrous hypothyroidism 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  
DNA ligase IV deficiency  
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome +   
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
glycogen storage disease IXa  
glycogen storage disease IXd  
Good syndrome 
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
HRPT-related hyperuricemia  
hyper IgE syndrome +   
hyper IgM syndrome +   
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 14  
immunodeficiency 15A  
immunodeficiency 16  
immunodeficiency 23  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 36  
immunodeficiency 37  
immunodeficiency 40  
immunodeficiency 46  
immunodeficiency 47  
immunodeficiency 50  
immunodeficiency 53  
immunodeficiency 56  
immunodeficiency 58  
immunodeficiency 60  
immunodeficiency 70  
immunodeficiency with hyper IgM type 3  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Lesch-Nyhan syndrome +   
leukocyte adhesion deficiency +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
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 type I  
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  
purine nucleoside phosphorylase deficiency  
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
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  
syndactyly type 8  
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  
syndromic X-linked mental retardation 35  
Van Esch-O'Driscoll syndrome  
Waisman syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
Woods Black Norbury Syndrome 
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
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 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 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 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 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: HIGM1 ;   HIGM1 syndrome ;   HIGM1 syndromes ;   HIGMX-1 ;   Hyper IgM Syndrome 1 ;   IHIS ;   IMD3 ;   IMMUNODEFICIENCY 3 ;   Immunodeficiency with Hyper IgM, Type 1 ;   X-linked hyper-IgM immunodeficiencies ;   X-linked hyper-IgM immunodeficiency ;   X-linked hyper-IgM syndrome ;   X-linked hyper-immunoglobulin M (IgM) syndrome ;   XHIGM ;   XHIM ;   hyper-IgM immunodeficiency syndrome, type 1
Primary IDs: MESH:D053307
Alternate IDs: OMIM:308230
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/30681380 "DO"

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