(Q4973199)

English

Brody myopathy

neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles

Sarcoplasmic reticulum -Ca2+ATPase deficiency
BRODY MYOPATHY
Brody disease

In more languages

Statements

0 references

class of disease

0 references

atrophic muscular disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

non-dystrophic myopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

qualitative or quantitative defects of protein SERCA1

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

health specialty

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196296/MONDO_0010977

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

359.89

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0050692

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050692

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_53347

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

PatientsLikeMe condition ID

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

GARD rare disease ID

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

28 August 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

0 references

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

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

WikiProjectMed ID

0 references

Sitelinks

Wikipedia(4 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)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q4973199&oldid=2087192753"