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Preferred Name

Myotonia congenita
Synonyms

Acetazolamide responsive myotonia congenita
ID

http://purl.bioontology.org/ontology/ICD10CM/G71.12
altLabel

Acetazolamide responsive myotonia congenita

Recessive myotonia congenita [Becker disease]

Myotonia levior

Dominant myotonia congenita [Thomsen disease]
cui

C0270959

C0751360

C2931826

C2936781
notation

G71.12
Order number

06725
prefLabel

Myotonia congenita
tui

T047
subClassOf

http://purl.bioontology.org/ontology/ICD10CM/G71.1
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http://purl.bioontology.org/ontology/OMIM/118425 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/118425 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/118425 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
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 CUI
http://purl.bioontology.org/ontology/MESH/D009224 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D009224 Medical Subject Headings / 医学主题词表 CUI
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/OMIM/160800 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/160800 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/MESH/C538353 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/DOID_2106 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_2106 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/255700 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/608390 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/603967 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI