malattia di Thomsen

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una delle due principali forme di miotonia congenita

Risorse esterne

identificativo Freebase	/m/0820gw^[1]
identificativo Microsoft Academic	2776767690 2909425333
identificativo Quora di un argomento	Myotonia-Congenita^[2]
PatientsLikeMe condition ID	myotonia-congenita
identificativo DiseasesDB	8736
identificativo Gran Enciclopèdia Catalana	miotonia-congenita
identificativo Orphanet	614^[3] 206973^[4] tipo di relazione: corrispondenza esatta
identificativo Disease Ontology	DOID:2106^[5]
identificativo Gran Enciclopèdia Catalana (obsoleto)	0194512
WikiProjectMed ID	Myotonia congenita
Genetics Home Reference Conditions ID	myotonia-congenita
identificativo MedlinePlus	001424
identificativo MonDO	MONDO_0016121
identificativo JSTOR di un argomento	myotonia-congenita
ICD-10	G71.1
ICD-11 ID (MMS)	8C71.2 soggetto indicato come: Myotonia congenita
UMLS CUI	C0027127^[3]
identificativo Encyclopædia Britannica Online	science/myotonia-congenita soggetto indicato come: myotonia congenita
identificativo GARD di una malattia rara	12301^[3]
codice MeSH	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]
identificativo OMIM	160800^[3] 255700^[3]
identificativo MeSH	D009224^[3] soggetto indicato come: Myotonia Congenita
identificativo KEGG	H00705
identificativo OpenAlex	C2776767690^[6]

malattia rara

classe di malattia

muscle tissue disease^[5]

Canalopatia

Asmus Julius Thomsen

neurologia

miotonia

Ranolazina^[7]

CLCN1^[8]^[9]

Progetto:Medicina

359.22^[3]

C84912^[3]

Myotonia congenita

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