Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Friedreich ataxia
Synonyms

FRDA

FA

Definitions

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

ID

http://www.orpha.net/ORDO/Orphanet_95

alternative_term

FRDA

FA

definition

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95

has_age_of_onset

Adolescent

Childhood

has_inheritance

Autosomal recessive

hasDbXref

ICD-10:G11.1

ICD-11:8A03.10

MedDRA:10017374

UMLS:C0016719

MeSH:D005621

OMIM:601992

OMIM:229300

label

Friedreich ataxia

notation

ORPHA:95

part_of

http://www.orpha.net/ORDO/Orphanet_207028

http://www.orpha.net/ORDO/Orphanet_217595

http://www.orpha.net/ORDO/Orphanet_522506

http://www.orpha.net/ORDO/Orphanet_98098

http://www.orpha.net/ORDO/Orphanet_519341

http://www.orpha.net/ORDO/Orphanet_68385

prefixIRI

ORDO:Orphanet_95

prefLabel

Friedreich ataxia

present_in

Sweden AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000

Finland AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000

Portugal AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000

Italy AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000

Denmark AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000

Italy AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000

Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

Greece AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000

Finland AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000

Russian Federation AND has_point_prevalence_average_value : 3.03 AND has_point_prevalence_range : 1-9 / 100 000

Spain AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000

Germany AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000

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

United Kingdom AND has_point_prevalence_average_value : 1.8 AND has_point_prevalence_range : 1-9 / 100 000

Czech Republic AND has_point_prevalence_average_value : 0.27 AND has_point_prevalence_range : 1-9 / 1 000 000

Spain AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_207028

http://www.orpha.net/ORDO/Orphanet_217595

http://www.orpha.net/ORDO/Orphanet_522506

http://www.orpha.net/ORDO/Orphanet_98098

http://www.orpha.net/ORDO/Orphanet_519341

http://www.orpha.net/ORDO/Orphanet_68385

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_95 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_95 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_12705 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 MONDO LOOM
urn:agi-folder:friedreich_ataxia BPT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038582 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906072968387836 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/G11.11 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIM_229300 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_45 HRDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12705 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.825.200 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84718 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.854.787.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 DOVES LOOM
http://purl.obolibrary.org/obo/OGMD_0000066 OGMD LOOM
http://www.radlex.org/RID/RID5152 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.300 RH-MESH LOOM
rgo:13244 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5262 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84718 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/229300 OMIM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719 MEDLINEPLUS LOOM
http://id.nlm.nih.gov/mesh/D005621 MDM LOOM
http://purl.obolibrary.org/obo/OMIT_0006824 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.700.150 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Friedreich_Ataxia CSEO LOOM
http://purl.obolibrary.org/obo/DOID_12705 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12705 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12705 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12705 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12705 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12705 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12705 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12705 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005621 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D005621 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/10394003 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/F140. RCD LOOM
http://identifiers.org/omim/229300 REXO LOOM
http://identifiers.org/omim/229300 GEXO LOOM
http://identifiers.org/omim/229300 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.780.200 RH-MESH LOOM
http://www.gamuts.net/entity#Friedreich_ataxia GAMUTS REST