Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
agammaglobulinemia +   
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
Antibody Deficiency due to Defect in CD19 
Aquaporin 1 Deficiency  
ataxia telangiectasia +   
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
ataxia with oculomotor apraxia type 1  
ataxia with oculomotor apraxia type 2  
ataxia with oculomotor apraxia type 3  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
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 25  
autosomal recessive spinocerebellar ataxia 26  
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 +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bloom syndrome  
Boucher-Neuhauser syndrome  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
CADASIL +   
CAKUT2  
CARD11 Immunodeficiency  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
CEDNIK syndrome  
Cenani-Lenz syndactyly syndrome  
cerebellar ataxia +   
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
CHARGE syndrome  
Charlevoix-Saguenay spastic ataxia  
cherubism +   
chromosomal disease +   
Cockayne syndrome +   
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement component 9 deficiency  
complement deficiency +   
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
CREST syndrome  
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Cutis Marmorata Telangiectatica Congenita 
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
desquamative interstitial pneumonia  
Dwarfism +   
Elejalde Disease 
Encephalocraniocutaneous Lipomatosis  
Endotoxin Hyporesponsiveness  
Epilepsy Telangiectasia 
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Familial Cirrhosis +   
familial cold autoinflammatory syndrome +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
Fanconi anemia +   
Fanconi-like syndrome  
Frenkel Russe Syndrome 
Friedreich ataxia +   
FTDALS3  
FTDALS4  
Gemignani Syndrome 
Genetic Skin Diseases +   
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Gomez Lopez Hernandez Syndrome 
Griscelli syndrome +   
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary angioedema +   
Hereditary Benign Telangiectasia 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary hemorrhagic telangiectasia +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Hereditary Neurocutaneous Angioma 
human immunodeficiency virus infectious disease +   
hyperimmunoglobulin syndrome +   
Hypoglobulinemia and Absent B Cells 
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypotrichosis-lymphedema-telangiectasia syndrome +   
IL21R Immunodeficiency  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS  
Immunodeficiency 12  
Immunodeficiency 14  
IMMUNODEFICIENCY 15A  
Immunodeficiency 15B  
Immunodeficiency 16  
Immunodeficiency 19  
Immunodeficiency 20  
Immunodeficiency 21  
Immunodeficiency 22  
Immunodeficiency 23  
IMMUNODEFICIENCY 24  
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES  
Immunodeficiency 27B  
IMMUNODEFICIENCY 28  
IMMUNODEFICIENCY 29  
Immunodeficiency 30  
Immunodeficiency 31A  
IMMUNODEFICIENCY 31B  
Immunodeficiency 31C  
Immunodeficiency 32A  
Immunodeficiency 32B  
Immunodeficiency 36  
Immunodeficiency 37  
Immunodeficiency 38, with Basal Ganglia Calcification  
Immunodeficiency 39  
Immunodeficiency 40  
Immunodeficiency 42  
Immunodeficiency 44  
Immunodeficiency 45  
Immunodeficiency 46  
Immunodeficiency 47  
Immunodeficiency 48  
Immunodeficiency 49  
Immunodeficiency 50  
Immunodeficiency 51  
Immunodeficiency 52  
Immunodeficiency 53  
Immunodeficiency 55  
Immunodeficiency 57  
Immunodeficiency 58  
Immunodeficiency 60  
Immunodeficiency 62  
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity  
Immunodeficiency 64  
Immunodeficiency 65  
Immunodeficiency due to Defect in CD3-Epsilon  
Immunodeficiency due to Defect in CD3-Gamma  
Immunodeficiency due to Defect in CD3-Zeta  
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 without Anhidrotic Ectodermal Dysplasia  
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  
inherited blood coagulation disease +   
inherited metabolic disorder +   
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Interleukin 2 Receptor, Alpha, Deficiency of  
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
Isolated Prolactin Deficiency 
Johnson Neuroectodermal Syndrome 
Kallmann syndrome +   
Kartagener syndrome  
Kotzot-Richter Syndrome 
Laminopathies  
Lennox-Gastaut 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 +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
Lynch syndrome +   
Machado-Joseph disease +   
Marfan syndrome +   
MASP2 Deficiency  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
mitochondrial DNA depletion syndrome 7  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
N syndrome 
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
NEMO Mutation with Immunodeficiency 
Nervous System Heredodegenerative Disorders +   
Neurocutaneous Melanosis  
neurofibromatosis +   
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
Parotidomegaly, Hereditary Bilateral 
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
PHACE Association 
Phacomatosis Pigmentovascularis 
phagocyte bactericidal dysfunction +   
platelet-type bleeding disorder 10  
polycystic kidney disease +   
polygenic disease +   
primary coenzyme Q10 deficiency 4  
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Properdin Deficiency, X-Linked  
pulmonary alveolar microlithiasis  
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related  
RASopathies  
retinal telangiectasia +   
Reynolds Syndrome  
Rh deficiency syndrome  
Riddle syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rothmund-Thomson syndrome +   
Sacral Agenesis with Vertebral Anomalies  
Schimke immuno-osseous dysplasia  
severe combined immunodeficiency +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
spastic ataxia +   
Spinocerebellar Ataxia and Plaque-Like Deposits 
Spinocerebellar Ataxia with Dysmorphism 
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 
Spinocerebellar Ataxia, Autosomal Recessive 23  
Spinocerebellar Ataxia, Autosomal Recessive 24  
Spinocerebellar Ataxia, Autosomal Recessive 27  
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Splenic Hypoplasia  
Sturge-Weber Syndrome +   
T cell deficiency +  
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta 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 
X-linked sideroblastic anemia with ataxia  
xeroderma pigmentosum +   
yellow nail syndrome +  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: AT ;   AT1 ;   Ataxia Telangiectasia Syndrome ;   Boder-Sedgwick syndrome ;   Louis Bar Syndrome ;   Telangiectasia, Cerebello-Oculocutaneous
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 ;   RDO:0003947
Alternate IDs: OMIM:208900
Xrefs: GARD:5862 ;   NCI:C2887
Definition Sources: MESH:D001260

paths to the root

NHLBI Logo

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