- Concept UI
- M0506048
- Scope Note
- An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.
- Terms
-
Neuroacanthocytosis
Preferred Term
Term UI
T367085
Date10/12/1999
LexicalTag
NON
ThesaurusID
-
Chorea Acanthocytosis
Term UI
T751228
Date05/14/2009
LexicalTag
NON
ThesaurusID
-
Chorea Acanthocytosis Syndrome
Term UI
T367084
Date10/12/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Chorea-Acanthocytosis
Term UI
T751227
Date05/14/2009
LexicalTag
NON
ThesaurusID
-
Choreoacanthocytosis
Term UI
T690344
Date01/29/2007
LexicalTag
NON
ThesaurusID
-
Levine-Critchley Syndrome
Term UI
T690345
Date01/29/2007
LexicalTag
EPO
ThesaurusID
-
Acanthocytosis with Neurologic Disorder
Term UI
T781497
Date12/01/2010
LexicalTag
NON
ThesaurusID