Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Myotonic Disorders
Synonyms	Eulenburg Disease Myopathy, Myotonic
Definitions	Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.
ID	http://purl.bioontology.org/ontology/MESH/D020967
altLabel	Eulenburg Disease Paralysis Periodica Paramyotonia Myotonic Myopathies Disorders, Myotonic Myotonia Fluctuans Paramyotonia Congenita of von Eulenberg Paramyotonia Congenita Without Cold Paralysis Von Eulenberg's Disease Myotonic Myopathy Disorder, Myotonic Myotonic Disorder Eulenburg's Disease Myopathies, Myotonic Von Eulenberg Disease Paramyotonia Congenita Myopathy, Myotonic
AQL	BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0752355 C0221055 C0553604 C1868619
DC	1
definition	Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.
DX	20000101
HN	2000
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2000
Mapped from	http://purl.bioontology.org/ontology/MESH/C563535
MDA	19991103
MMR	20150706
MN	C10.668.491.606 C05.651.662
notation	D020967
prefLabel	Myotonic Disorders
TERMUI	T372484 T809196 T372491 T372489 T000880809 T372490 T000880807 T358274 T372485 T000880810
TH	OMIM (2013) NLM (2000) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D009135

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D020967	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020967	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/168300	OMIM	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715788001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/715788001	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/608390	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/603967	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10088318	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10088318	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/DA-51270	SNMI	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/F3922	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10088318	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/41574007	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/168300	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/603967	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/41574007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020967	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10/G71.1	ICD10	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRGER/10028658	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/193237003	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/193237003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004237	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10028658	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/F392.	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10028658	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD9CM/359.2	ICD9CM	CUI
http://doe-generated-ontology.com/OntoAD#C0553604	ONTOAD	LOOM
http://purl.bioontology.org/ontology/ICD10/G71.1	ICD10	LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.1	ICD10CM	LOOM
http://purl.bioontology.org/ontology/RCTV2/F392.00	RCTV2	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020967	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0020787	OMIT	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037747	PMAPP-PMO	LOOM
http://purl.jp/bio/4/id/200906052257109204	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.662	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.606	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0553604	OCHV	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028658	MEDDRA	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#39093	OCHV	LOOM
http://purl.bioontology.org/ontology/ICD9CM/359.2	ICD9CM	LOOM