myotonia congenita

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

External resources

ଫ୍ରୀବେସ ସୂଚକ	/m/0820gw^[୧]
Microsoft Academic ID	2776767690 2909425333
Quora topic ID	Myotonia-Congenita^[୨]
PatientsLikeMe condition ID	myotonia-congenita
DiseasesDB	8736
Gran Enciclopèdia Catalana ID	miotonia-congenita
Orphanet ID	614^[୩] 206973^[୪] mapping relation type: exact match
Disease Ontology ID	DOID:2106^[୫]
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 subject named as: Myotonia congenita
UMLS CUI	C0027127^[୩]
Encyclopædia Britannica Online ID	science/myotonia-congenita subject named as: myotonia congenita
GARD rare disease ID	12301^[୩]
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^[୪]
OMIM ID	160800^[୩] 255700^[୩]
MeSH descriptor ID	D009224^[୩] subject named as: Myotonia Congenita
KEGG ID	H00705
OpenAlex ID	C2776767690^[୬]

rare disease

class of disease

muscle tissue disease^[୫]

channelopathy

Asmus Julius Thomsen

neurology

myotonia

CLCN1^[୮]^[୯]

359.22^[୩]

C84912^[୩]

Myotonia congenita

↑ Freebase Data Dumps, ୨୮ ଅକ୍ଟୋବର 2013
↑ Quora
↑ ^୩.୦ ^୩.୧ ^୩.୨ ^୩.୩ ^୩.୪ ^୩.୫ ^୩.୬ ^୩.୭ Disease Ontology, ୧୫ ମଇ 2019, DOID:2106
↑ ^୪.୦ ^୪.୧ Monarch Disease Ontology release 2018-06-29, ୨୮ ଜୁଲାଇ 2018, MONDO_0016121
↑ ^୫.୦ ^୫.୧ ^୫.୨ Disease Ontology, ୨୯ ନଭେମ୍ବର 2020, DOID:2106
↑ OpenAlex, ୨୬ ଜାନୁଆରୀ 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
↑ CHEMBL1404, ୨୫ ମଇ 2016, ChEMBL, ଇଂରାଜୀ ଭାଷା
↑ 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