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Metadata
ID DOID:2106
Name myotonia congenita
Definition A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
https://medlineplus.gov/genetics/condition/myotonia-congenita/, http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614, http://rarediseases.org/rare-diseases/myotonia-congenita/
Xrefs

GARD:12301

ICD9CM:359.22

MESH:D009224

NCI:C84912

ORDO:614

UMLS_CUI:C0027127

Alternateids

DOID:0080100

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Batten Turner congenital myopathy [EXACT]

Thomsen and Becker disease [EXACT]

Parent Relationships

is_a muscle tissue disease

is_a physical disorder

Subclass Logical Relationships

disease has basis in some Abnormality of prenatal development or birth

has symptom some muscle weakness

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