Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Huntington disease

Synonyms

Huntington chorea

Definitions

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

ID

http://www.orpha.net/ORDO/Orphanet_399

alternative_term

Huntington chorea

definition

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399

has_age_of_onset

Adolescent

Adult

Childhood

Elderly

has_inheritance

Autosomal dominant

hasDbXref

OMIM:143100

ICD-11:8A01.10

UMLS:C0020179

MedDRA:10070668

MeSH:D006816

ICD-10:G10

label

Huntington disease

notation

ORPHA:399

part_of

http://www.orpha.net/ORDO/Orphanet_306719

http://www.orpha.net/ORDO/Orphanet_522522

http://www.orpha.net/ORDO/Orphanet_276058

http://www.orpha.net/ORDO/Orphanet_98534

http://www.orpha.net/ORDO/Orphanet_519347

prefixIRI

ORDO:Orphanet_399

prefLabel

Huntington disease

present_in

United Kingdom AND has_point_prevalence_average_value : 5.4 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000

Italy AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000

Cyprus AND has_point_prevalence_average_value : 4.64 AND has_point_prevalence_range : 1-9 / 100 000

Australia AND has_annual_incidence_average_value : 0.65 AND has_annual_incidence_range : 1-9 / 1 000 000

Spain AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000

Worldwide AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000

Japan AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000

Iceland AND has_annual_incidence_average_value : 0.14 AND has_annual_incidence_range : 1-9 / 1 000 000

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

Canada AND has_annual_incidence_average_value : 0.69 AND has_annual_incidence_range : 1-9 / 1 000 000

Finland AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000

Italy AND has_point_prevalence_average_value : 6.35 AND has_point_prevalence_range : 1-9 / 100 000

Norway AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000

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

United States AND has_annual_incidence_average_value : 0.3 AND has_annual_incidence_range : 1-9 / 1 000 000

Spain AND has_point_prevalence_average_value : 4.94 AND has_point_prevalence_range : 1-9 / 100 000

Egypt AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000

Denmark AND has_point_prevalence_average_value : 5.8 AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000

Greece AND has_annual_incidence_average_value : 0.33 AND has_annual_incidence_range : 1-9 / 1 000 000

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

China AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000

China AND has_point_prevalence_average_value : 0.37 AND has_point_prevalence_range : 1-9 / 1 000 000

United Kingdom AND has_annual_incidence_average_value : 0.61 AND has_annual_incidence_range : 1-9 / 1 000 000

Worldwide AND has_annual_incidence_average_value : 0.38 AND has_annual_incidence_range : 1-9 / 1 000 000

Taiwan, Province of China AND has_point_prevalence_average_value : 0.42 AND has_point_prevalence_range : 1-9 / 1 000 000

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

Ireland AND has_point_prevalence_average_value : 10.6 AND has_point_prevalence_range : 1-5 / 10 000

Cyprus AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000

Taiwan, Province of China AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000

Australia AND has_point_prevalence_average_value : 6.3 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_306719

http://www.orpha.net/ORDO/Orphanet_522522

http://www.orpha.net/ORDO/Orphanet_276058

http://www.orpha.net/ORDO/Orphanet_98534

http://www.orpha.net/ORDO/Orphanet_519347

subClassOf

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

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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_399 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007739 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007739 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0007739 EFO LOOM
http://purl.obolibrary.org/obo/OMIM_143100 CCO LOOM
http://doe-generated-ontology.com/OntoAD#C0020179 ONTOAD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.380.278 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0020179 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#F03.087.250.400 RH-MESH LOOM
urn:agi-folder:huntington_disease BPT LOOM
http://identifiers.org/omim/143100 REXO LOOM
http://identifiers.org/omim/143100 GEXO LOOM
http://identifiers.org/omim/143100 RETO LOOM
http://www.semanticweb.org/ontologies/2011/1/Ontology1296772722296.owl#Huntington_disease PDON LOOM
http://localhost/plosthes.2017-1#6233 PLOSTHES LOOM
http://purl.obolibrary.org/obo/OMIT_0007958 OMIT LOOM
http://www.semanticweb.org/ontologies/2012/0/Ontology1325521724189.owl#Huntington's_disease CTO-NDD LOOM
http://purl.obolibrary.org/obo/OGMD_0000067 OGMD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6318 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.430 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006816 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.079.545 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007739 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.662.262.249.750 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038378 PMAPP-PMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_118 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.497 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#F03.087.400.390 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D006816 MESH LOOM
http://www.gamuts.net/entity#Huntington_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/143100 OMIM LOOM
http://www.gamuts.net/entity#Huntington_disease GAMUTS REST