(Q746781)

English

neuroacanthocytosis

Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia

Neuroacanthocytosis

In more languages

Statements

designated intractable/rare disease

3 references

http://www.mhlw.go.jp/english/wp/wp-hw10/dl/02e.pdf

6 December 2018

http://www.nanbyou.or.jp/entry/4051

6 December 2018

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

class of disease

0 references

neurodegeneration

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic neurodegenerative disease with dementia

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

Huntington's disease-like syndrome

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

health specialty

0 references

medical genetics

0 references

symptoms and signs

0 references

genetic association

1 reference

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

external data available at URL

http://www.nanbyou.or.jp/entry/4051

language of work or name

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C84926

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

http://purl.obolibrary.org/obo/DOID_0050765

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050765

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_263440

0 references

Identifiers

MeSH descriptor ID

subject named as

Neuroacanthocytosis

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

C10.228.662.262.249.937

0 references

C16.320.400.550

0 references

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

7 August 2019

Disease Ontology ID

ICD-11 (foundation)

0 references

Neuroacanthocytosis

1 reference

9 July 2020

Microsoft Academic ID

0 references

0 references

1 reference

imported from Wikimedia project

English Wikipedia

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

Sitelinks

Wikipedia(11 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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