Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Rippling muscle disease, 1
Synonyms	Rippling Muscle Disease 1
ID	http://purl.bioontology.org/ontology/MESH/C535686
altLabel	Rippling Muscle Disease 1 Rippling muscle disease Rippling Muscle Disease 2
cui	C1853698 C1838254 C1832560
HM	D009135
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009135
MDA	20100825
MeSH Frequency	26
MMR	20171016
notation	C535686
prefLabel	Rippling muscle disease, 1
SC	3
Scope Statement	hereditary autosomal dominant disorders characterized by mechanically triggered contractions of skeletal muscle. OMIM: 600332 and OMIM: 606072
TERMUI	T803949 T736886 T736888 T802732
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10069417	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/600332	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/606072	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/606072	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10069417	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10069417	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/709281006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/709281006	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/601253	OMIM	CUI
http://purl.obolibrary.org/obo/MONDO_0010868	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	DOID	LOOM
http://purl.bioontology.org/ontology/OMIM/600332	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535686	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0010868	DOVES	LOOM