loading...| Preferred Name |
Huntington Disease |
| Synonyms |
Akinetic-Rigid Variant of 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 |
Akinetic-Rigid Variant of Huntington Disease Huntington Disease, Late Onset Late Onset Huntington Disease Progressive Chorea, Hereditary, Chronic (Huntington) Chorea, Huntington Juvenile-Onset Huntington Disease Huntington's Chorea Huntington Disease, Late-Onset Progressive Chorea, Chronic Hereditary (Huntington) Huntington Disease, Akinetic-Rigid Variant Huntington Disease, Akinetic Rigid Variant Juvenile Huntington Disease Juvenile Onset Huntington Disease Huntington Disease, Juvenile Chorea, Huntington's Huntington Disease, Juvenile-Onset Chorea, Chronic Progressive Hereditary (Huntington) Huntington Disease, Juvenile Onset Late-Onset Huntington Disease Huntington Chorea Akinetic Rigid Variant of Huntington Disease Huntington Chronic Progressive Hereditary Chorea Chronic Progressive Hereditary Chorea (Huntington) Huntington's Disease |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| 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/C565747 |
| MDA |
19990101 |
| MMR |
20150630 |
| MN |
C10.228.140.079.545 F03.615.400.390 C10.574.500.497 C16.320.400.430 F03.615.250.400 C10.228.662.262.249.750 C10.228.140.380.278 |
| notation |
D006816 |
| prefLabel |
Huntington Disease |
| TERMUI |
T020579 T364197 T364189 T364194 T368476 T364196 T364187 T364236 T020576 T364208 T364186 T364235 T020578 T364188 T364201 T364195 T020577 |
| TH |
BIOETHICS (1974) NLM (1993) NLM (1978) NLM (2000) ORD (2010) OMIM (2013) NLM (19XX) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D020271 http://purl.bioontology.org/ontology/MESH/D001480 http://purl.bioontology.org/ontology/MESH/D003704 |