National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

Myotonia Congenita
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84912
code

C84912
DEFINITION

A genetic congenital neuromuscular disorder affecting the skeletal muscles. It is caused by mutations in the chloride channel gene (CLCN1 gene). It is characterized by muscle stiffness, hypertrophy, pain, and cramping.
label

Myotonia Congenita
Preferred_Name

Myotonia Congenita
prefixIRI

C84912
prefLabel

Myotonia Congenita
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0027127
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122787
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D009224 Medical Subject Headings LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8C71.2 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.12 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.obolibrary.org/obo/DOID_2106 Human Disease Ontology 123 LOOM