Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Muscular Dystrophy, Congenital, Lmna-Related
Synonyms	Mdcl
ID	http://purl.bioontology.org/ontology/MESH/C567708
altLabel	Mdcl
cui	C2750785
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D034904/Q000172 D009136
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009136 http://purl.bioontology.org/ontology/MESH/D034904
MDA	20121105
MeSH Frequency	4
MMR	20131106
notation	C567708
prefLabel	Muscular Dystrophy, Congenital, Lmna-Related
SC	3
Scope Statement	mutations in LMNA
TERMUI	T810924 T810923
TH	OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/150330	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/771272007	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/613205	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/771272007	SNOMEDCT	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C148369	NCIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567708	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_613205	CCO	LOOM
http://identifiers.org/omim/613205	REXO	LOOM
http://identifiers.org/omim/613205	GEXO	LOOM
http://identifiers.org/omim/613205	RETO	LOOM
http://purl.obolibrary.org/obo/NCIT_C148369	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/613205	OMIM	LOOM