autosomal recessive cerebellar ataxia due to a DNA repair defect (Q55346093)

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human disease

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Language	Label	Description	Also known as
English	autosomal recessive cerebellar ataxia due to a DNA repair defect	human disease

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0020045

class of disease

0 references

subclass of

autosomal recessive cerebellar ataxia

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0020045

developmental anomaly of metabolic origin

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0020045

DNA repair-deficiency disorder

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0020045

metabolic disease with dementia

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0020045

exact match

http://www.orpha.net/ORDO/Orphanet_98097

0 references

Identifiers

ICD-10-CM

G11.3

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0020045

Mondo ID

MONDO_0020045

0 references

Orphanet ID

98097

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0020045

UMLS CUI

C5681518

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

 

Sitelinks

Wikipedia(0 entries)

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Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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Retrieved from "https://www.wikidata.org/w/index.php?title=Q55346093&oldid=2087324245"