Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

myotonia congenita, autosomal recessive
Synonyms

Becker disease

myotonia, generalized

myotonia, generalised

myotonia congenita, autosomal recessive

myotonia congenita, recessive

autosomal recessive myotonia congenita

Definitions

Autosomal recessive form of myotonia congenita.

ID

http://purl.obolibrary.org/obo/MONDO_0009715

database_cross_reference

GARD:844

UMLS:C0751360

OMIM:255700

NANDO:1200499

MEDGEN:155852

definition

Autosomal recessive form of myotonia congenita.

has_exact_synonym

myotonia congenita, autosomal recessive

myotonia congenita, recessive

autosomal recessive myotonia congenita

has_related_synonym

Becker disease

myotonia, generalized

myotonia, generalised

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0009715

in_subset

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

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

label

myotonia congenita, autosomal recessive

notation

MONDO:0009715

prefLabel

myotonia congenita, autosomal recessive

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0751360

https://omim.org/entry/255700

http://identifiers.org/medgen/155852

treeView

http://purl.obolibrary.org/obo/MONDO_0009710

http://purl.obolibrary.org/obo/MONDO_0100546

http://purl.obolibrary.org/obo/MONDO_0006025

subClassOf

http://purl.obolibrary.org/obo/MONDO_0009710

http://purl.obolibrary.org/obo/MONDO_0100546

http://purl.obolibrary.org/obo/MONDO_0006025

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