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Preferred Name

Congenital myopathies
Synonyms

Minicore disease
ID

http://purl.bioontology.org/ontology/ICD10CM/G71.2
altLabel

Minicore disease

Central core disease

Fiber-type disproportion

Myotubular (centronuclear) myopathy

Multicore disease

Nemaline myopathy
cui

C0206157

C0751951

C0546264

C0270960

C2875316

C0270962
EXCLUDES1

arthrogryposis multiplex congenita (Q74.3)
Inverse of SIB

http://purl.bioontology.org/ontology/ICD10CM/G71.1

http://purl.bioontology.org/ontology/ICD10CM/G71.9

http://purl.bioontology.org/ontology/ICD10CM/G71.3

http://purl.bioontology.org/ontology/ICD10CM/G71.8

http://purl.bioontology.org/ontology/ICD10CM/G71.0
notation

G71.2
Order number

06397
prefLabel

Congenital myopathies
tui

T019

T047
subClassOf

http://purl.bioontology.org/ontology/ICD10CM/G71
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http://purl.bioontology.org/ontology/OMIM/255310 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/117000 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/MTHU032350 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/606210 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/180901 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/MESH/D020512 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD11CN/8C72 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10/G71.2 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10/G71.2 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU023732 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/MESH/D017696 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/OMIM/MTHU053095 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/191030 Online Mendelian Inheritance in Man CUI
http://purl.bmicc.cn/ontology/ICD10CN/G71.2 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D020914 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/OMIM/102610 Online Mendelian Inheritance in Man CUI