Experimental Factor Ontology

Last uploaded: February 17, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0009710 http://purl.obolibrary.org/obo/MONDO_0009710
Preferred Name	Thomsen and Becker disease
Definitions	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
Synonyms	myopathy, congenital Batten-Turner congenital myopathy myotonia congenita
Type	http://www.w3.org/2002/07/owl#Class

definition	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
preferred label	Thomsen and Becker disease
label	Thomsen and Becker disease
prefLabel	Thomsen and Becker disease
exactMatch	http://purl.bioontology.org/ontology/ICD10CM/G71.12 http://identifiers.org/snomedct/726051002 http://identifiers.org/mesh/D009224 http://purl.obolibrary.org/obo/DOID_2106 http://www.orpha.net/ORDO/Orphanet_614 http://purl.obolibrary.org/obo/NCIT_C84912 See more See less
database_cross_reference	MESH:D009224 Orphanet:614 NCIT:C84912 NANDO:1200498 NANDO:1200497 MedDRA:10028655 SCTID:726051002 MedDRA:10043461 ICD9:359.22 ICD10CM:G71.12 DOID:2106 GARD:12301 See more See less
notation	MONDO:0009710
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare See more See less
has_related_synonym	myopathy, congenital Batten-Turner congenital myopathy
id	MONDO:0009710
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0016121 http://purl.obolibrary.org/obo/MONDO_0019952
subClassOf	http://www.ebi.ac.uk/efo/EFO_1001899
closeMatch	http://identifiers.org/meddra/10043461 http://identifiers.org/meddra/10028655
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	myotonia congenita

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