Mondo Disease Ontology

Last uploaded: November 25, 2024
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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
database_cross_reference

DOID:0081335

UMLS:C0027127

MEDGEN:10158

OMIM:255300
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.
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/2575

https://github.com/monarch-initiative/mondo/issues/6751
id

MONDO:0100468
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
label

Batten-Turner congenital myopathy
notation

MONDO:0100468
prefLabel

Batten-Turner congenital myopathy
skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0027127

http://identifiers.org/medgen/10158

http://purl.obolibrary.org/obo/DOID_0081335

https://omim.org/entry/255300
terms_creator

https://orcid.org/0000-0001-5208-3432
treeView

http://purl.obolibrary.org/obo/MONDO_0019952
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019952
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