Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

myotonia congenita
Synonyms

Thomsen and Becker disease

Batten Turner congenital myopathy
Definitions

A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_2106
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:D009224

ICD9CM:359.22

UMLS_CUI:C0027127

GARD:12301

NCI:C84912

ORDO:614
definition

A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
disease has basis in

http://purl.obolibrary.org/obo/HP_0001197
has exact synonym

Thomsen and Becker disease

Batten Turner congenital myopathy
has symptom

http://purl.obolibrary.org/obo/SYMP_0000094
has_alternative_id

DOID:0080100
has_obo_namespace

disease_ontology
id

DOID:2106
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

myotonia congenita
notation

DOID:2106
prefLabel

myotonia congenita
subClassOf

http://purl.obolibrary.org/obo/DOID_66

http://purl.obolibrary.org/obo/DOID_0080015
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2106 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2106 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2106 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2106 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2106 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2106 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_2106 FNS-H SAME_URI
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 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#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
http://www.gamuts.net/entity#myotonia_congenita GAMUTS REST