Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Autosomal recessive cerebellar ataxia
Synonyms

ARCA

Definitions

A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.

ID

http://www.orpha.net/ORDO/Orphanet_1172

alternative_term

ARCA

definition

A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1172

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

hasDbXref

UMLS:C5575375

label

Autosomal recessive cerebellar ataxia

notation

Category

ORPHA:1172

prefixIRI

ORDO:Orphanet_1172

prefLabel

Autosomal recessive cerebellar ataxia

present_in

Norway AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

France AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000

Portugal AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_183518

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_98539

Delete Subject Author Type Created
No notes to display