loading...| Preferred Name |
Neuroacanthocytosis |
|
| Synonyms |
Chorea-Acanthocytoses Levine Critchley Syndrome Acanthocytosis, Chorea Acanthocytosis with Neurologic Disorder Levine-Critchley Syndrome Choreoacanthocytosis Chorea Acanthocytoses Acanthocytoses, Chorea Chorea Acanthocytosis Chorea Acanthocytosis Syndromes Chorea Acanthocytosis Syndrome Chorea-Acanthocytosis Choreoacanthocytoses |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054546 |
|
| altLabel |
Chorea-Acanthocytoses Levine Critchley Syndrome Acanthocytosis, Chorea Acanthocytosis with Neurologic Disorder Levine-Critchley Syndrome Choreoacanthocytosis Chorea Acanthocytoses Acanthocytoses, Chorea Chorea Acanthocytosis Chorea Acanthocytosis Syndromes Chorea Acanthocytosis Syndrome Chorea-Acanthocytosis Choreoacanthocytoses |
|
| 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 |
C0393576 |
|
| DC |
1 |
|
| definition |
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. |
|
| DX |
20080101 |
|
| HN |
2008 (2000) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2008; see CHOREATIC DISORDERS 2000-2007 |
|
| Mapped from | ||
| MDA |
20070709 |
|
| MMR |
20130708 |
|
| MN |
C16.320.400.550 C10.228.662.262.249.937 |
|
| notation |
D054546 |
|
| prefLabel |
Neuroacanthocytosis |
|
| TERMUI |
T367084 T781497 T751227 T690344 T367085 T690345 T751228 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2008) NLM (2012) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |