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Term:
Wiskott-Aldrich syndrome (DOID:9169)
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 +   
Activated Protein C Resistance  
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
alpha-2-plasmin inhibitor deficiency  
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity  
antithrombin III deficiency  
Barth syndrome +   
Bernard-Soulier syndrome +   
blood platelet disease +   
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  
congenital afibrinogenemia +   
congenital disorder of glycosylation Iy  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
disseminated intravascular coagulation +   
Duchenne muscular dystrophy +   
Dysprothrombinemia 
ectodermal dysplasia 1 +   
Essential Athrombia 
essential thrombocythemia  
factor V deficiency +   
factor VII deficiency  
factor VIII deficiency +   
factor X deficiency  
factor XI deficiency  
factor XII deficiency  
factor XIII deficiency +   
Factors VIII, IX and XI, Combined Deficiency of 
Familial Hemorrhagic Diathesis due to Antithrombin 
Familial Multiple Coagulation Factor Deficiency II 
Familial Multiple Coagulation Factor Deficiency IV 
Familial Multiple Coagulation Factor Deficiency VI 
Familial Platelet Disorder with Associated Myeloid Malignancy  
Fanconi anemia complementation group B  
FG syndrome +   
Glanzmann's thrombasthenia +   
glycogen storage disease IXa  
glycogen storage disease IXd  
gray platelet syndrome +   
hemophilia B  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
Hermansky-Pudlak syndrome +   
high molecular weight kininogen deficiency  
hypogonadotropic hypogonadism 1 with or without anosmia  
idiopathic CD4-positive T-lymphocytopenia  
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 +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Partington syndrome  
Passovoy Factor 
Pechet Factor Deficiency 
Pelizaeus-Merzbacher disease +   
phosphoribosylpyrophosphate synthetase superactivity  
Plasminogen Activator Inhibitor-1 Deficiency  
platelet storage pool deficiency +   
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 12 
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 16  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 20  
platelet-type bleeding disorder 3  
platelet-type bleeding disorder 8  
platelet-type bleeding disorder 9  
Prieto syndrome 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
protein C deficiency +   
prothrombin deficiency +   
purpura +   
Quebec platelet disorder  
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
Scott 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  
T-Lymphocytopenia +   
vascular hemostatic disease +   
vitamin K deficiency bleeding  
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1  
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2  
von Willebrand's disease +   
Waterhouse-Friderichsen syndrome +  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
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 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: Aldrich Syndrome ;   Eczema Thrombocytopenia Immunodeficiency Syndrome ;   Eczema-Thrombocytopenia-Immunodeficiency Syndromes ;   Imd2 ;   Immunodeficiency 2 ;   WAS ;   WAS1 ;   Wiskott Syndrome ;   Wiskott-Aldrich syndrome 1
Narrow Synonyms: Wiskott-Aldrich syndrome, attenuated
Primary IDs: MESH:D014923
Alternate IDs: OMIM:301000
Xrefs: ICD10CM:D82.0 ;   ICD9CM:279.12 ;   NCI:C3448
Definition Sources: MESH:D014923, https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome

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