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Huntington disease-like 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.
Uniprot Description Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life.
Mondo Term and Equivalent IDs
MONDO:0011671:  Huntington disease-like 2
MESH:C564708: 
Orphanet:98934: 
SCTID:721228006: 
UMLS:C1847987: