Preferred Name | Ataxia Telangiectasia | |
Synonyms |
Louis Bar Syndrome Syndrome, Ataxia Telangiectasia Ataxia-Telangiectasia Syndrome, Louis-Bar Telangiectasia, Cerebello-Oculocutaneous Louis-Bar Syndrome Ataxia Telangiectasia Syndrome |
|
Definitions |
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). |
|
ID |
http://purl.bioontology.org/ontology/MESH/D001260 |
|
altLabel |
Louis Bar Syndrome Syndrome, Ataxia Telangiectasia Ataxia-Telangiectasia Syndrome, Louis-Bar Telangiectasia, Cerebello-Oculocutaneous Louis-Bar Syndrome Ataxia Telangiectasia Syndrome |
|
AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
cui |
C0004135 |
|
DC |
1 |
|
definition |
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). |
|
DX |
19680101 |
|
HN |
1968 |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Machine permutation |
1968 |
|
Mapped from |
http://purl.bioontology.org/ontology/MESH/C566865 http://purl.bioontology.org/ontology/MESH/C565380 |
|
MDA |
19990101 |
|
MMR |
20190617 |
|
MN |
C18.452.284.060 C16.320.080 C20.673.795.250 C10.597.350.090.500.530.060 C16.320.798.250 C14.907.823.213 C10.562.100 C10.228.140.252.190.530.060 |
|
notation |
D001260 |
|
prefLabel |
Ataxia Telangiectasia |
|
TERMUI |
T003760 T003761 T003759 T840941 T366092 |
|
TH |
NLM (1997) OMIM (2013) NLM (2000) NLM (1968) UNK (19XX) GHR (2014) NLM (2014) ORD (2010) |
|
tui |
T047 |
|
subClassOf |
http://purl.bioontology.org/ontology/MESH/D013684 http://purl.bioontology.org/ontology/MESH/D020752 http://purl.bioontology.org/ontology/MESH/D020754 http://purl.bioontology.org/ontology/MESH/D000081207 |