Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

myotonia congenita, autosomal recessive
Synonyms

myotonia, generalised

Becker disease

myotonia, generalized

autosomal recessive myotonia congenita

myotonia congenita, autosomal recessive

myotonia congenita, recessive

Definitions

Autosomal recessive form of myotonia congenita.

ID

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

database_cross_reference

UMLS:C0751360

NANDO:1200499

MEDGEN:155852

OMIM:255700

GARD:844

definition

Autosomal recessive form of myotonia congenita.

has_exact_synonym

autosomal recessive myotonia congenita

myotonia congenita, autosomal recessive

myotonia congenita, recessive

has_related_synonym

myotonia, generalised

Becker disease

myotonia, generalized

IAO_0000233

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

id

MONDO:0009715

in_subset

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

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

label

myotonia congenita, autosomal recessive

notation

MONDO:0009715

preferred label

myotonia congenita, autosomal recessive

prefLabel

myotonia congenita, autosomal recessive

skos_exactMatch

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

https://omim.org/entry/255700

http://identifiers.org/medgen/155852

subClassOf

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

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

http://www.ebi.ac.uk/efo/EFO_1000017

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