(Q3331459)

English

tibial muscular dystrophy

late-onset muscular dystrophy beginning in the anterior comparment of the legs

TMD
Tardive tibial muscular dystrophy
Udd type distal myopathy
distal titinopathy
Finnish tibial muscular dystrophy
Udd myopathy
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
Distal myopathy, Udd type

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Statements

0 references

0 references

distal muscular dystrophy

1 reference

18 January 2022

autosomal dominant distal myopathy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010870

qualitative or quantitative defects of titin

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

autosomal dominant disease

1 reference

18 January 2022

0 references

3 references

13 August 2019

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000155657/MONDO_0010870

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_0111078

1 reference

18 January 2022

http://identifiers.org/doid/DOID:0111078

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_609

0 references

Identifiers

MeSH descriptor ID

C536815

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

18 January 2022

Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

7 August 2019

1 reference

7 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

7 August 2019

0 references

Sitelinks

Wikipedia(2 entries)

fiwiki Tibiaalinen lihasdystrofia
frwiki Myopathie distale de Udd

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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