(Q2309604)

English

spheroid body myopathy

Human disease

Autosomal dominant spheroid body myopathy
MYOPATHY, SPHEROID BODY

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Statements

0 references

0 references

1 reference

15 May 2019

qualitative or quantitative defects of myotilin

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008448

myofibrillar myopathy

1 reference

30 November 2020

2 references

13 August 2019

A mutation in myotilin causes spheroid body myopathy

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0080091

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0080091

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_268129

0 references

Identifiers

MeSH descriptor ID

C000598645

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

30 November 2020

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

28 August 2019

Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

28 August 2019

mapping relation type

exact 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

retrieved

28 July 2018

Mondo ID

MONDO_0008448

Sitelinks

Wikipedia(1 entry)

dewiki Spheroid-Körper-Myopathie

(Q2309604)

spheroid body myopathy

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Identifiers

Sitelinks

Wikipedia(1 entry)

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