Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	Batten-Turner congenital myopathy
Synonyms
Definitions	A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.
ID	http://purl.obolibrary.org/obo/MONDO_0100468
created_by	https://orcid.org/0000-0001-5208-3432
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/2575
label	Batten-Turner congenital myopathy
prefixIRI	MONDO:0100468
prefLabel	Batten-Turner congenital myopathy
textual definition	A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016121

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100468	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100468	MONDO	LOOM
http://purl.bioontology.org/ontology/OMIM/255300	OMIM	LOOM