myotonia congenita

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muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres

Välised allikad

Freebase	/m/0820gw^[1]
Microsoft Academic ID	2776767690 2909425333
Quora topic ID	Myotonia-Congenita^[2]
PatientsLikeMe condition ID	myotonia-congenita
DiseasesDB	8736
Gran Enciclopèdia Catalana ID	miotonia-congenita
Orphanet ID	614^[3] 206973^[4] mapping relation type: täpne vaste
Disease Ontology ID	DOID:2106^[5]
Gran Enciclopèdia Catalana ID (former scheme)	0194512
WikiProjectMed ID	Myotonia congenita
Genetics Home Reference Conditions ID	myotonia-congenita
MedlinePlus ID	001424
Mondo ID	MONDO_0016121
JSTOR topic ID	myotonia-congenita
ICD-10	G71.1
ICD-11 ID (MMS)	8C71.2 teema nimetus kujul: Myotonia congenita
UMLS CUI	C0027127^[3]
Encyclopædia Britannica Online ID	science/myotonia-congenita teema nimetus kujul: myotonia congenita
GARD rare disease ID	12301^[3]
MeSH tree code	C05.651.662.500 C10.574.500.545 C10.668.491.606.500 C16.320.400.540
ICD-11 (foundation)	1916703439
ICD-10-CM	G71.1^[4]
OMIM ID	160800^[3] 255700^[3]
MeSH descriptor ID	D009224^[3] teema nimetus kujul: Myotonia Congenita
KEGG ID	H00705
OpenAlex ID	C2776767690^[6]

rare disease

class of disease

muscle tissue disease^[5]

channelopathy

Asmus Julius Thomsen

myotonia

ranolazine^[7]

CLCN1^[8]^[9]

359.22^[3]

C84912^[3]

Myotonia congenita

↑ Freebase Data Dumps, 28. oktoober 2013
↑ Quora
↑ ^3,0 ^3,1 ^3,2 ^3,3 ^3,4 ^3,5 ^3,6 ^3,7 Disease Ontology, 15. mai 2019, DOID:2106
↑ ^4,0 ^4,1 Monarch Disease Ontology release 2018-06-29, 28. juuli 2018, MONDO_0016121
↑ ^5,0 ^5,1 ^5,2 Disease Ontology, 29. november 2020, DOID:2106
↑ OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
↑ CHEMBL1404, 25. mai 2016, ChEMBL, inglise keel
↑ Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
↑ The skeletal muscle chloride channel in dominant and recessive human myotonia
↑ Identifiers.org, https://registry.identifiers.org/registry/doid