loading...| Preferred Name |
Huntington's disease pathway |
| Synonyms |
KEGG:05016 Huntington disease pathway HD pathway Huntington's chorea pathway |
| Definitions |
An autosomal dominant neurodegenerative disease manifesting in movement, cognitive and psychiatric disorders caused by the abnormal expansion of a polyglutamine (polyQ) stretch in the Huntingtin (HTT) protein. It mostly affects the caudate-putamen striatal neurons. Other areas are also affected and undergo a size reduction. HTT is thought to be involved in several cellular pathways. Its functions are overcome by the mutant protein mHTT. |
| ID |
http://purl.obolibrary.org/obo/PW_0000017 |
| definition |
An autosomal dominant neurodegenerative disease manifesting in movement, cognitive and psychiatric disorders caused by the abnormal expansion of a polyglutamine (polyQ) stretch in the Huntingtin (HTT) protein. It mostly affects the caudate-putamen striatal neurons. Other areas are also affected and undergo a size reduction. HTT is thought to be involved in several cellular pathways. Its functions are overcome by the mutant protein mHTT. |
| has_exact_synonym |
Huntington disease pathway HD pathway Huntington's chorea pathway |
| has_obo_namespace |
pathway |
| has_related_synonym |
KEGG:05016 |
| id |
PW:0000017 |
| label |
Huntington's disease pathway |
| notation |
PW:0000017 |
| prefLabel |
Huntington's disease pathway |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38825 | National Cancer Institute Thesaurus / 美国国家癌症研究所词典 | LOOM |