Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Amyotrophic lateral sclerosis

Synonyms

ALS

Definitions

A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

ID

http://www.orpha.net/ORDO/Orphanet_803

alternative_term

ALS

Lou Gehrig disease

Charcot disease

definition

A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803

has_age_of_onset

Adult

has_inheritance

Not applicable

Autosomal recessive

Autosomal dominant

hasDbXref

OMIM:617839

OMIM:616208

ICD-10:G12.2

OMIM:615515

OMIM:600795

MeSH:D000690

ICD-11:8B60.0

OMIM:612577

OMIM:606070

OMIM:105400

OMIM:617892

OMIM:613435

OMIM:205250

OMIM:619141

OMIM:608627

OMIM:613954

OMIM:606640

OMIM:619133

MedDRA:10002026

UMLS:C0002736

OMIM:617921

OMIM:612069

OMIM:300857

OMIM:616437

OMIM:611895

OMIM:615426

OMIM:608031

OMIM:608030

OMIM:614808

label

Amyotrophic lateral sclerosis

notation

ORPHA:803

part_of

http://www.orpha.net/ORDO/Orphanet_182070

http://www.orpha.net/ORDO/Orphanet_98503

prefixIRI

ORDO:Orphanet_803

prefLabel

Amyotrophic lateral sclerosis

present_in

Uruguay AND has_annual_incidence_average_value : 1.37 AND has_annual_incidence_range : 1-9 / 100 000

Europe AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000

Worldwide AND has_annual_incidence_average_value : 1.35 AND has_annual_incidence_range : 1-9 / 100 000

United States AND has_annual_incidence_average_value : 1.46 AND has_annual_incidence_range : 1-9 / 100 000

Iran, Islamic Republic of AND has_annual_incidence_average_value : 0.42 AND has_annual_incidence_range : 1-9 / 1 000 000

Italy AND has_annual_incidence_average_value : 3.0 AND has_annual_incidence_range : 1-9 / 100 000

Uruguay AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000

Taiwan, Province of China AND has_annual_incidence_average_value : 0.51 AND has_annual_incidence_range : 1-9 / 1 000 000

Ireland AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000

Specific population AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000

Finland AND has_annual_incidence_average_value : 2.4 AND has_annual_incidence_range : 1-9 / 100 000

Iran, Islamic Republic of AND has_point_prevalence_average_value : 1.57 AND has_point_prevalence_range : 1-9 / 100 000

Spain AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000

Specific population AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000

Specific population AND has_annual_incidence_average_value : 2.5 AND has_annual_incidence_range : 1-9 / 100 000

Specific population AND has_point_prevalence_average_value : 10.8 AND has_point_prevalence_range : 1-5 / 10 000

Canada AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000

Norway AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000

Denmark AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000

Taiwan, Province of China AND has_point_prevalence_average_value : 1.97 AND has_point_prevalence_range : 1-9 / 100 000

Faroe Islands AND has_annual_incidence_average_value : 2.6 AND has_annual_incidence_range : 1-9 / 100 000

Finland AND has_point_prevalence_average_value : 6.4 AND has_point_prevalence_range : 1-9 / 100 000

Canada AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000

United Kingdom AND has_annual_incidence_average_value : 1.06 AND has_annual_incidence_range : 1-9 / 100 000

Norway AND has_annual_incidence_average_value : 2.2 AND has_annual_incidence_range : 1-9 / 100 000

France AND has_annual_incidence_average_value : 2.0 AND has_annual_incidence_range : 1-9 / 100 000

Italy AND has_point_prevalence_average_value : 7.9 AND has_point_prevalence_range : 1-9 / 100 000

Denmark AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_average_value : 3.85 AND has_point_prevalence_range : 1-9 / 100 000

Ireland AND has_point_prevalence_average_value : 4.7 AND has_point_prevalence_range : 1-9 / 100 000

Spain AND has_annual_incidence_average_value : 1.4 AND has_annual_incidence_range : 1-9 / 100 000

United Kingdom AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_182070

http://www.orpha.net/ORDO/Orphanet_98503

subClassOf

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

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

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Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0004976 MONDO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Amyotrophic_Lateral_Sclerosis APANEUROCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Amyotrophic_Lateral_Sclerosis APAONTO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#Amyotrophic_lateral_sclerosis ADO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#Amyotrophic_lateral_sclerosis NIO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000690 RH-MESH LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#Amyotrophic_lateral_sclerosis NRO LOOM
http://dbpedia.org/resource/Amyotrophic_lateral_sclerosis DCO LOOM
http://purl.obolibrary.org/obo/HP_0007354 EFO LOOM
http://purl.obolibrary.org/obo/HP_0007354 HP LOOM
http://purl.obolibrary.org/obo/HP_0007354 OBA LOOM
http://purl.obolibrary.org/obo/HP_0007354 UPHENO LOOM
http://doe-generated-ontology.com/OntoAD#C0002736 ONTOAD LOOM
http://purl.bioontology.org/ontology/SNMI/DA-23010 SNMI LOOM
http://purl.bioontology.org/ontology/ICD10CM/G12.21 ICD10CM LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12566 BIRNLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.950.050 RH-MESH LOOM
http://identifiers.org/omim/105400 REXO LOOM
http://identifiers.org/omim/105400 GEXO LOOM
http://identifiers.org/omim/105400 RETO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_106 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.562.250 RH-MESH LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12566 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12566 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.845.800.050 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Amyotrophic_Lateral_Sclerosis CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1073 OCHV LOOM
http://purl.jp/bio/4/id/200906049502955239 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C34373 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU038375 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86044005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/Amyotrophic_Lateral_Sclerosis NND_ND LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002026 MEDDRA LOOM
http://www.limics.fr/ontologies/ontolurgences#ScleroseLateraleAmyotrophique ONTOLURGENCES LOOM
http://www.gamuts.net/entity#amyotrophic_lateral_sclerosis GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/D000690 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34373 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038315 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.854.139 RH-MESH LOOM
http://www.limics.fr/ontologies/ontoparonmed#ScleroseLateraleAmyotrophique ONTOPARON LOOM
http://radlex.org/RID/RID5128 RADLEX LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/8B60.0 VODANADISEASES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_332 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD9CM/335.20 ICD9CM LOOM
http://purl.obolibrary.org/obo/OMIM_105400 CCO LOOM
http://purl.obolibrary.org/obo/OMIT_0002102 OMIT LOOM
http://purl.bioontology.org/ontology/LNC/LA27534-9 LOINC LOOM
http://www.ebi.ac.uk/efo/EFO_0000253 CLO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.467.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/4000-0117 CRISP LOOM
http://purl.obolibrary.org/obo/DOID_332 CLO LOOM
http://purl.obolibrary.org/obo/DOID_332 DTO LOOM
http://purl.obolibrary.org/obo/DOID_332 DOID LOOM
http://purl.obolibrary.org/obo/DOID_332 BAO LOOM
http://purl.obolibrary.org/obo/DOID_332 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_332 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_332 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_332 FNS-H LOOM
http://localhost/plosthes.2017-1#4054 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0004976 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0004976 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0004976 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0004976 DOVES LOOM
http://www.semanticweb.org/ontologies/2012/0/Ontology1325521724189.owl#Amyotrophic_Lateral_Scherosis CTO-NDD LOOM
http://purl.obolibrary.org/obo/ND_0000120 NDDO LOOM
http://purl.obolibrary.org/obo/ND_0000120 NIO LOOM
http://purl.bioontology.org/ontology/RCTV2/F152000 RCTV2 LOOM
http://nanbyodata.jp/ontology/NANDO_1200002 NANDO LOOM
http://www.gamuts.net/entity#amyotrophic_lateral_sclerosis GAMUTS REST