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Term:
Parent Terms Term With Siblings Child Terms
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
Antibody Deficiency due to Defect in CD19 
ataxia telangiectasia +   
An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)
ataxia with oculomotor apraxia type 1  
ataxia with oculomotor apraxia type 2  
ataxia with oculomotor apraxia type 3  
autoimmune disease +   
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
Autoinflammation, Immunde Dysregulation, and Eosinophilia  
autosomal dominant familial periodic fever  
autosomal recessive spinocerebellar ataxia 10  
autosomal recessive spinocerebellar ataxia 11  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 13  
autosomal recessive spinocerebellar ataxia 14  
autosomal recessive spinocerebellar ataxia 15  
autosomal recessive spinocerebellar ataxia 16  
autosomal recessive spinocerebellar ataxia 17  
autosomal recessive spinocerebellar ataxia 18  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
autosomal recessive spinocerebellar ataxia 20  
autosomal recessive spinocerebellar ataxia 21  
autosomal recessive spinocerebellar ataxia 22  
autosomal recessive spinocerebellar ataxia 23  
autosomal recessive spinocerebellar ataxia 24  
autosomal recessive spinocerebellar ataxia 25  
autosomal recessive spinocerebellar ataxia 26  
autosomal recessive spinocerebellar ataxia 27  
Autosomal Recessive Spinocerebellar Ataxia 28  
autosomal recessive spinocerebellar ataxia 3 
autosomal recessive spinocerebellar ataxia 4  
autosomal recessive spinocerebellar ataxia 6 
autosomal recessive spinocerebellar ataxia 7  
autosomal recessive spinocerebellar ataxia 8  
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +   
B cell deficiency +   
Bloom syndrome  
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cayman type cerebellar ataxia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
CEDNIK syndrome  
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Charlevoix-Saguenay spastic ataxia  
Cockayne syndrome +   
combined immunodeficiency +   
Combined Inflammatory and Immunologic Defect 
complement deficiency +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
CREST syndrome  
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Cutis Marmorata Telangiectatica Congenita 
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
dendritic cell deficiency +   
Elejalde Disease 
Encephalocraniocutaneous Lipomatosis  
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
Epilepsy Telangiectasia 
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Fanconi anemia +   
Fanconi-like syndrome  
Frenkel Russe Syndrome 
Friedreich ataxia +   
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Gomez Lopez Hernandez Syndrome 
Griscelli syndrome +   
Hepatic Venoocclusive Disease with Immunodeficiency  
Hereditary Benign Telangiectasia 
hereditary hemorrhagic telangiectasia +   
Hereditary Neurocutaneous Angioma 
human immunodeficiency virus infectious disease +   
Hypoglobulinemia and Absent B Cells 
hypotrichosis-lymphedema-telangiectasia syndrome +   
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 15 +   
immunodeficiency 18  
immunodeficiency 20  
immunodeficiency 21  
immunodeficiency 27A  
immunodeficiency 27B  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 31A  
immunodeficiency 31B  
immunodeficiency 31C  
immunodeficiency 35  
immunodeficiency 38  
immunodeficiency 39  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 47  
immunodeficiency 51  
immunodeficiency 54  
immunodeficiency 57  
immunodeficiency 65  
immunodeficiency 66  
Immunodeficiency 67  
Immunodeficiency 68  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency due to Ficolin 3 Deficiency  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Johnson Neuroectodermal Syndrome 
Kotzot-Richter Syndrome 
Li-Fraumeni syndrome +   
Lichtenstein Syndrome 
linear nevus sebaceous syndrome +   
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
lymphoproliferative syndrome +   
Lynch syndrome +   
Marinesco-Sjogren syndrome  
MASP2 Deficiency  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
mitochondrial DNA depletion syndrome 7  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
N syndrome 
NEMO Mutation with Immunodeficiency 
Neurocutaneous Melanosis  
neurofibromatosis +   
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
NK cell deficiency +   
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
PHACE Association  
Phacomatosis Pigmentovascularis 
phagocyte bactericidal dysfunction +   
primary coenzyme Q10 deficiency 4  
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related  
retinal telangiectasia +   
Reynolds Syndrome  
Riddle syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rothmund-Thomson syndrome +   
Schimke immuno-osseous dysplasia  
severe combined immunodeficiency +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Splenic Hypoplasia  
Sturge-Weber syndrome +   
T cell and NK cell immunodeficiency +   
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
Thumb Agenesis, Short Stature, and Immunodeficiency 
tuberous sclerosis +   
Tuftsin Deficiency 
von Hippel-Lindau disease  
Werner syndrome +   
WHIM syndrome  
Wyburn Mason's Syndrome 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
xeroderma pigmentosum +   
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: AT ;   AT1 ;   Boder-Sedgwick syndrome ;   Louis Bar syndrome ;   ataxia telangiectasia syndrome ;   cerebello-oculocutaneous telangiectasia
Narrow Synonyms: AT, COMPLEMENTATION GROUP C ;   AT, COMPLEMENTATION GROUP D ;   AT, COMPLEMENTATION GROUP E ;   ATA ;   ATAXIA-TELANGIECTASIA VARIANT ;   ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY ;   ATC ;   ATD ;   ATE ;   LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A
Primary IDs: MESH:D001260
Alternate IDs: OMIM:208900
Xrefs: GARD:5862 ;   NCI:C2887
Definition Sources: https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia "DO"

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