Preferred Name |
Huntington Disease |
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Synonyms |
Huntington Chorea |
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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 (source : MSH) |
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ID |
http://doe-generated-ontology.com/OntoAD#C0020179 |
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altLabel |
Huntington Chorea HUNTINGTON DIS Huntington Chorée chronique progressive héréditaire de Huntington chorée progressive héréditaire de Huntington Chronic progressive chorea Huntington's chorea HD Huntington chorea HC Huntington chorea Chorée de Huntington Chorée chronique progressive de Huntington Huntington's disease chorée héréditaire Progressive Chorea, Hereditary, Chronic (Huntington) Chronic progressive hereditary chorea |
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associated_with_malfunction_of_gene_product | ||
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 (source : MSH) |
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disease_has_associated_anatomic_site | ||
disease_has_associated_gene | ||
has_finding_site | ||
has_manifestation |
http://doe-generated-ontology.com/OntoAD#C0008489 http://doe-generated-ontology.com/OntoAD#C0344315 http://doe-generated-ontology.com/OntoAD#C0497327 |
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has_severity | ||
hiddenLabel |
MaladieDeHuntington HuntingtonDisease |
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prefixIRI |
OntoAD:C0020179 |
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prefLabel |
Huntington Disease Maladie de Huntington |
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subClassOf |