BioAssay Ontology / 生物活性分析本体 - myotonia congenita - Classes

Preferred Name	myotonia congenita
Synonyms	Thomsen 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	OMIM:255700 NCI:C84912 OMIM:160800 MESH:D009224 ICD9CM:359.22 ORDO:614 GARD:12301 UMLS_CUI:C0027127
has exact synonym	Thomsen disease Thomsen's disease Congenital myotonia, autosomal dominant form
id	DOID:2106
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label	myotonia congenita
notation	DOID:2106
prefLabel	myotonia congenita
textual definition	A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
引自	http://purl.obolibrary.org/obo/doid.owl
有_obo_命名空间	disease_ontology
subClassOf	http://purl.obolibrary.org/obo/DOID_66

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84912	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.bioontology.org/ontology/MESH/D009224	Medical Subject Headings / 医学主题词表	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8C71.2	《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.12	International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改	LOOM
http://purl.obolibrary.org/obo/DOID_2106	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.obolibrary.org/obo/DOID_2106	Human Disease Ontology / 人类疾病本体	SAME_URI