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 | ||
prefixIRI |
ORDO:Orphanet_1429 |
|
prefLabel |
Benign hereditary chorea |
|
treeView | ||
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.orpha.net/ORDO/Orphanet_1429 | CCONT | SAME_URI | |
http://www.orpha.net/ORDO/Orphanet_1429 | EFO | SAME_URI | |
http://www.orpha.net/ORDO/Orphanet_1429 | EFO | SAME_URI | |
http://purl.bioontology.org/ontology/SNOMEDCT/230306001 | SNOMEDCT | LOOM | |
http://purl.bioontology.org/ontology/RCD/X0045 | RCD | LOOM |