National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Myotonia Congenita
Synonyms

Myotonia Congenita
Definitions

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.
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.
FULL_SYN

Myotonia Congenita
label

Myotonia Congenita
Preferred_Name

Myotonia Congenita
prefixIRI

Thesaurus:C84912
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0027127
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122787
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http://sbmi.uth.tmc.edu/ontology/ochv#C0027127 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2106 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.540 RH-MESH LOOM
rgo:27455 GAMUTS LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.12 ICD10CM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028655 MEDDRA LOOM
http://nanbyodata.jp/ontology/NANDO_1200497 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_2106 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2106 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2106 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2106 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2106 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2106 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2106 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2106 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD9CM/359.22 ICD9CM LOOM
http://purl.bioontology.org/ontology/CSP/1849-6776 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8446 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009224 RH-MESH LOOM
http://doe-generated-ontology.com/OntoAD#C0027127 ONTOAD LOOM
http://purl.jp/bio/4/id/200906034653974378 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.606.500 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038379 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D009224 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.662.500 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Myotonia_Congenita CSEO LOOM
http://purl.bioontology.org/ontology/WHO/1662 WHO-ART LOOM
http://purl.obolibrary.org/obo/OMIT_0010259 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/726051002 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C84912 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.545 RH-MESH LOOM