Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	TIBIAL MUSCULAR DYSTROPHY, TARDIVE
Synonyms	TARDIVE TIBIAL MUSCULAR DYSTROPHY
ID	http://purl.bioontology.org/ontology/OMIM/600334
altLabel	TARDIVE TIBIAL MUSCULAR DYSTROPHY TMD UDD MYOPATHY
cui	C1450052 C1838244
Gene Locus	2q31
Gene Symbol	MPRM SALMY LGMD2J TMD HMERF TTN CMD1G
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049446 http://purl.bioontology.org/ontology/OMIM/MTHU006518 http://purl.bioontology.org/ontology/OMIM/MTHU006522 http://purl.bioontology.org/ontology/OMIM/MTHU006524 http://purl.bioontology.org/ontology/OMIM/MTHU001112 http://purl.bioontology.org/ontology/OMIM/MTHU049445 http://purl.bioontology.org/ontology/OMIM/MTHU006519 http://purl.bioontology.org/ontology/OMIM/MTHU006517 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU006520 http://purl.bioontology.org/ontology/OMIM/MTHU006523 http://purl.bioontology.org/ontology/OMIM/MTHU006521
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600334
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	TIBIAL MUSCULAR DYSTROPHY, TARDIVE
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D049310	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D049310	Medical Subject Headings	CUI