Preferred Name

Myotonia Congenita

Synonyms

Maladie de Thomsen

Myotonie congénitale de Thomsen

congenital myotonia

Definitions

Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride chan (source : MSH)

ID

http://doe-generated-ontology.com/OntoAD#C0027127

altLabel

Maladie de Thomsen

Myotonie congénitale de Thomsen

congenital myotonia

Myotonia congenital

Batten Turner Congenital Myopathy

Myotonia, Generalized

MYOTONIA CONGEN

definition

Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride chan (source : MSH)

disease_excludes_primary_anatomic_site

http://doe-generated-ontology.com/OntoAD#C0262950

disease_has_associated_anatomic_site

http://doe-generated-ontology.com/OntoAD#C1516798

disease_has_normal_tissue_origin

http://doe-generated-ontology.com/OntoAD#C0225317

hiddenLabel

MyotonieCongénitale

MyotoniaCongenita

prefixIRI

OntoAD:C0027127

prefLabel

Myotonie congénitale

Myotonia Congenita

subClassOf

http://doe-generated-ontology.com/OntoAD#C0553604

http://doe-generated-ontology.com/OntoAD#C0027125

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
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
http://purl.bioontology.org/ontology/ICD10CM/G71.12 ICD10CM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028655 MEDDRA 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 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://www.gamuts.net/entity#myotonia_congenita GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009224 RH-MESH 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#C84912 NCIT 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