(Q7876086)

English

UV-sensitive syndrome

autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines)

Uv-Sensitive Syndrome type 1
UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1; UVSS1
UVSS1

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autosomal recessive disease

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30 November 2020

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30 November 2020

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Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome

ERCC8

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stated in

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

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WikiProject Medicine

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NCI Thesaurus ID

C173106

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exact match

http://purl.obolibrary.org/obo/DOID_0060240

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30 November 2020

http://identifiers.org/doid/DOID:0060240

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stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_178338

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Identifiers

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28 August 2019

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30 November 2020

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Genetics Home Reference Conditions ID

uv-sensitive-syndrome

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Microsoft Academic ID

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1 reference

28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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Sitelinks

Wikipedia(1 entry)

enwiki UV-sensitive syndrome

(Q7876086)

UV-sensitive syndrome

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