Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Benign hereditary chorea
Synonyms

BHC

Benign familial chorea

Definitions

A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.

ID

http://www.orpha.net/ORDO/Orphanet_1429

alternative_term

BHC

Benign familial chorea

definition

A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1429

hasDbXref

OMIM:118700

UMLS:C0393584

ICD-10:G25.5

OMIM:215450

ICD-11:8A01.0

label

Benign hereditary chorea

notation

ORPHA:1429

part_of

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

http://www.orpha.net/ORDO/Orphanet_158266

prefixIRI

ORDO:Orphanet_1429

prefLabel

Benign hereditary chorea

treeView

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

http://www.orpha.net/ORDO/Orphanet_158266

subClassOf

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

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

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