(Q56013596)

English

Bethlem myopathy 2

human disease

BETHLEM MYOPATHY 2
Bethlem Myopathy type 2
BETHLEM MYOPATHY 2; BTHLM2
BTHLM2
Ehlers-Danlos syndrome myopathic type
mEDS

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Ehlers-Danlos syndrome

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genetic association

COL12A1

1 reference

stated in

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q56013596)

Bethlem myopathy 2

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