(Q55345885)

English

severe neurodegenerative syndrome with lipodystrophy

human disease

ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
PELD
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD
Severe neurodegenerative syndrome due to BSCL2 deficiency

In more languages

Statements

0 references

class of disease

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nervous system heredodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

genetic lipodystrophy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

A new seipin-associated neurodegenerative syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000168000/MONDO_0014402

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_363400

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

UniProt disease ID

0 references

Sitelinks

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