Preferred Name

Congenital myopathy

ID

http://www.orpha.net/ORDO/Orphanet_97245

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245

hasDbXref

UMLS:C0270960

ICD-10:G71.2

ICD-11:8C72

MedDRA:10062547

label

Congenital myopathy

notation

Category

ORPHA:97245

prefixIRI

ORDO:Orphanet_97245

prefLabel

Congenital myopathy

present_in

United States AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_206656

http://www.orpha.net/ORDO/Orphanet_557492

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_97245 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.obolibrary.org/obo/DOID_0081337 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019952 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019952 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU065401 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM