Neuroscience Information Framework (NIF) Dysfunction Ontlogy - Huntingtons disease - Classes | NCBO BioPortal

Neuroscience Information Framework (NIF) Dysfunction Ontlogy

Last uploaded: April 11, 2018

Id	http://uri.neuinfo.org/nif/nifstd/birnlex_12500 http://uri.neuinfo.org/nif/nifstd/birnlex_12500
Preferred Name	Huntingtons disease
Definitions	A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea.
Type	http://www.w3.org/2002/07/owl#Class

definition	A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea.
preferred label	Huntingtons disease
label	Huntingtons disease
synonym	Huntington's Huntington Chronic Progressive Hereditary Chorea Huntington's disease Huntington's Chorea Chronic Progressive Hereditary Chorea (Huntington) Huntington disease See more See less
acronym	HD
hasExternalSource	http://uri.neuinfo.org/nif/nifstd/readable/MeSH
createdDate	October 5, 2007
note	A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. http://uri.neuinfo.org/nif/nifstd/readable/uncurated
definingCitationURI	http://www.ninds.nih.gov/disorders/huntington/huntington.htm
hasCurationStatus	http://uri.neuinfo.org/nif/nifstd/readable/uncurated
MeshUid	D006816
subClassOf	http://uri.neuinfo.org/nif/nifstd/birnlex_2086
hasDefinitionSource	http://uri.neuinfo.org/nif/nifstd/readable/MeSH_defSource
hasBirnlexCurator	http://uri.neuinfo.org/nif/nifstd/readable/Bill_Bug
editorial note	http://uri.neuinfo.org/nif/nifstd/readable/uncurated
type	http://www.w3.org/2002/07/owl#Class
modifiedDate	April 11, 2009
nifID	_8.3_2.10
definingCitation	Adams et al., Principles of Neurology, 6th ed, pp1060-4

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display