(Q3961676)

English

Keppen–Lubinsky syndrome

human disease

KEPPEN-LUBINSKY SYNDROME; KPLBS
KPLBS
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
KEPPEN-LUBINSKY SYNDROME

In more languages

Statements

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class of disease

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genetic lipodystrophy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

UniProt protein ID

13 August 2019

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

http://www.orpha.net/ORDO/Orphanet_435628

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Identifiers

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1 reference

Freebase Data Dumps

publication date

28 October 2013

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(4 entries)

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Wikiversity(0 entries)

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Multilingual sites(0 entries)

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