PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Huntington Disease

Synonyms
Definitions

A neurodegenerative disease that has material basis in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has material basis in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.

ID

http://www.phoc.org.cn/pmo/class/PMO_00038378

Database_Cross_Reference

PSY:23565

MSH:D006816

CHV:0000006318

MTH:NOCODE

ICD9CM:333.4

SNOMEDCT_US:58756001

CCPSS:0056979

DO:DOID:12858

SNM:D-8441

COSTAR:NOCODE

ICPC2P:N99004

CSP:2057-3283

OMIM:613004

AOD:0000006201

ICD10AM:G10

SNOMEDCT_US:155006000

ICD10:G10

NCI:C82342

RCD:F134.

DXP:U000345

PSY:23570

MDR:10020469

MEDLINEPLUS:1218

NDFRT:N0000001558

OMIM:143100

ICD10CM:G10

SNMI:DA-21120

LCH_NW:sh85063158

DXP:NOCODE

MEDCIN:31992

MDR:10070668

Definition

A neurodegenerative disease that has material basis in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has material basis in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.

label

Huntington Disease

MCID

MC00006423

PMOID

PMO:00038378

prefixIRI

pmo:PMO_00038378

prefLabel

Huntington Disease

Synonym

HUNTINGTON DIS

CHOREA, CHRONIC PROGRESSIVE HEREDITARY

huntington's disease

huntington's chorea

HD - Huntington chorea

Huntington Chorea

Huntingtons chorea

Huntington's Disease

Huntington's chorea (diagnosis)

huntingtons chorea

Chronic progressive hereditary chorea

Huntington Chronic Progressive Hereditary Chorea

Chorea, Chronic Progressive Hereditary (Huntington)

HC - Huntington chorea

Chorea, Huntington's

huntington chorea

Huntington's disease

Huntington's disease (disorder)

Huntingtons Disease

Huntington's Chorea

Huntington Disease [Disease/Finding]

Progressive Chorea, Chronic Hereditary (Huntington)

HD

huntingtons disease

Huntingtons Chorea

Chronic Progressive Hereditary Chorea (Huntington)

Chorea;Huntingtons

Huntington's chorea

Chronic progressive chorea

Huntington chorea

Chorea, Huntington

HUNTINGTON CHOREA

HUNTINGTONS DIS

Huntington's chorea (disorder)

Huntington disease

Progressive Chorea, Hereditary, Chronic (Huntington)

HUNTINGTON DISEASE

Tree Number

T9.21.15.5.21.1

T3.25.76.10.1

T9.21.4.2.11

T9.8.4.44.11

T3.25.11.17.10.1

T9.21.15.7.6.10.1

T9.21.15.5.31.1

T9.21.1.17.10.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038190

http://www.phoc.org.cn/pmo/class/PMO_00085568

http://www.phoc.org.cn/pmo/class/PMO_00009996

http://www.phoc.org.cn/pmo/class/PMO_00038375

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Delete Mapping To Ontology Source
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://www.orpha.net/ORDO/Orphanet_399 ORDO 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.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