Mondo Disease Ontology

Last uploaded: November 25, 2024
Jump to:
loading...
Preferred Name

Thomsen and Becker disease
Synonyms

Batten-Turner congenital myopathy

myopathy, congenital

myotonia congenita
Definitions

A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
ID

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

NCIT:C84912

NANDO:1200497

ICD9:359.22

SCTID:726051002

MedDRA:10028655

GARD:12301

MESH:D009224

MedDRA:10043461

Orphanet:614

ICD10CM:G71.12

DOID:2106

NANDO:1200498
definition

A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
has_exact_synonym

myotonia congenita
has_related_synonym

Batten-Turner congenital myopathy

myopathy, congenital
id

MONDO:0009710
in_subset

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

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

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

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

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

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

Thomsen and Becker disease
notation

MONDO:0009710
prefLabel

Thomsen and Becker disease
skos_closeMatch

http://identifiers.org/meddra/10043461

http://identifiers.org/meddra/10028655
skos_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://purl.obolibrary.org/obo/Orphanet_614

http://purl.obolibrary.org/obo/NCIT_C84912
treeView

http://purl.obolibrary.org/obo/MONDO_0019119
excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016121

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

http://purl.obolibrary.org/obo/MONDO_0019119
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display