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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
Aarskog syndrome +   
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.
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  
congenital disorder of glycosylation Iy  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
DNA ligase IV deficiency  
Duchenne muscular dystrophy +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome  
glycogen storage disease IXa  
glycogen storage disease IXd  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
hyper IgE syndrome +   
hyper IgM syndrome +   
hypogonadotropic hypogonadism 1 with or without anosmia  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency with hyper IgM type 3  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Kennedy's disease  
Lesch-Nyhan syndrome +   
leukocyte adhesion deficiency +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Ogden syndrome  
Opitz-GBBB syndrome +   
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome 
purine nucleoside phosphorylase deficiency  
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
severe combined immunodeficiency +   
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  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
Woods Black Norbury Syndrome 
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
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 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: 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 ;   RDO:0007615
Definition Sources: MESH:D053307, https://www.ncbi.nlm.nih.gov/pubmed/30681380

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