Preferred Name |
Huntington Disease |
|
Synonyms |
Late-Onset Huntington 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. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) |
|
ID |
http://purl.bioontology.org/ontology/MESH/D006816 |
|
altLabel |
Late-Onset Huntington Disease Chorea, Huntington's Progressive Chorea, Chronic Hereditary (Huntington) Huntington Chorea Huntington Disease, Late-Onset Huntington's Disease Huntington's Chorea Juvenile Huntington Disease Chorea, Chronic Progressive Hereditary (Huntington) Late Onset Huntington Disease Juvenile-Onset Huntington Disease Huntington Disease, Juvenile Onset Chorea, Huntington Huntington Chronic Progressive Hereditary Chorea Juvenile Onset Huntington Disease Chronic Progressive Hereditary Chorea (Huntington) Akinetic-Rigid Variant of Huntington Disease Huntington Disease, Juvenile-Onset Huntington Disease, Akinetic-Rigid Variant Akinetic Rigid Variant of Huntington Disease Huntington Disease, Late Onset Huntington Disease, Juvenile Progressive Chorea, Hereditary, Chronic (Huntington) Huntington Disease, Akinetic Rigid Variant |
|
AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
cui |
C0751207 C0393574 C0751208 C0020179 |
|
DC |
1 |
|
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. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) |
|
DX |
20000101 |
|
HN |
2000(1963) |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Machine permutation |
2000; see HUNTINGTON'S DISEASE 1993-1999; for HUNTINGTON DISEASE see HUNTINGTON'S DISEASE 1993-1999, see HUNTINGTON CHOREA 1977-1992, see CHOREA, HEREDITARY 1963-1976 |
|
Mapped from |
http://purl.bioontology.org/ontology/MESH/C536694 |
|
MDA |
19990101 |
|
MMR |
20150630 |
|
MN |
F03.615.400.390 C10.228.140.079.545 F03.615.250.400 C10.228.662.262.249.750 C10.574.500.497 C10.228.140.380.278 C16.320.400.430 |
|
notation |
D006816 |
|
prefLabel |
Huntington Disease |
|
TERMUI |
T364236 T364208 T364195 T020578 T364186 T364235 T364196 T364201 T020577 T364194 T368476 T020579 T364188 T020576 T364197 T364187 T364189 |
|
TH |
OMIM (2013) NLM (2000) NLM (1993) NLM (1978) GHR (2014) NLM (19XX) BIOETHICS (1974) ORD (2010) |
|
tui |
T047 |
|
subClassOf |
http://purl.bioontology.org/ontology/MESH/D001480 http://purl.bioontology.org/ontology/MESH/D002819 http://purl.bioontology.org/ontology/MESH/D003704 |