Orphanet Rare Disease Ontology - Ataxia-telangiectasia - Classes | NCBO BioPortal

Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_100 http://www.orpha.net/ORDO/Orphanet_100
Preferred Name	Ataxia-telangiectasia
Definitions	A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments.
Synonyms	Louis-Bar syndrome
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments.
label	Ataxia-telangiectasia
prefLabel	Ataxia-telangiectasia
hasDbXref	OMIM:208900 OMIM:208910 MedDRA:10003594 ICD-10:G11.3 ICD-11:4A01.31 MeSH:D001260 UMLS:C0004135 See more See less
notation	ORPHA:100
alternative_term	Louis-Bar syndrome
present_in	United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 See more See less
part_of	http://www.orpha.net/ORDO/Orphanet_169346 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_183478 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_95710 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_252190 http://www.orpha.net/ORDO/Orphanet_522506 http://www.orpha.net/ORDO/Orphanet_98097 http://www.orpha.net/ORDO/Orphanet_519341 See more See less
prefixIRI	ORDO:Orphanet_100
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal recessive
has_age_of_onset	Childhood Infancy
treeView	http://www.orpha.net/ORDO/Orphanet_169346 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_485382 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_183478 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_95710 http://www.orpha.net/ORDO/Orphanet_79379 http://www.orpha.net/ORDO/Orphanet_252190 http://www.orpha.net/ORDO/Orphanet_522506 http://www.orpha.net/ORDO/Orphanet_98097 http://www.orpha.net/ORDO/Orphanet_519341 See more See less

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