(Q3456637)

English

X-linked myopathy with excessive autophagy

Human disease

XMEA
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
MEAX
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
Vacuolar myopathy

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Statements

0 references

0 references

2 references

15 May 2019

30 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010684

progressive muscular dystrophy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010684

X-linked recessive disease

1 reference

30 November 2020

Autophagic vacuolar myopathy

0 references

0 references

3 references

13 August 2019

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000160131/MONDO_0010684

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0050760

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0050760

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_25980

0 references

Identifiers

MeSH descriptor ID

C536522

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010684

PatientsLikeMe condition ID

x-linked-myopathy-with-excessive-autophagy

0 references

1 reference

30 November 2020

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

7 August 2019

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

7 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

0 references

(Q3456637)

X-linked myopathy with excessive autophagy

Statements

Identifiers

Sitelinks

Wikipedia(3 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)