Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

myotonia congenita

Synonyms

Batten Turner congenital myopathy

Thomsen and Becker disease

Definitions

OMIM mapping confirmed by DO. [SN]. A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

ID

http://purl.obolibrary.org/obo/DOID_2106

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

NCI:C84912

MESH:D009224

ICD9CM:359.22

ORDO:614

GARD:12301

UMLS_CUI:C0027127

definition

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

disease has basis in

http://purl.obolibrary.org/obo/HP_0001197

has exact synonym

Batten Turner congenital myopathy

Thomsen and Becker disease

has symptom

http://purl.obolibrary.org/obo/SYMP_0000094

has_alternative_id

DOID:0080100

has_obo_namespace

disease_ontology

id

DOID:2106

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

myotonia congenita

notation

DOID:2106

prefLabel

myotonia congenita

subClassOf

http://purl.obolibrary.org/obo/DOID_66

http://purl.obolibrary.org/obo/DOID_0080015

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