Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	WELANDER DISTAL MYOPATHY
Synonyms	MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT
ID	http://purl.bioontology.org/ontology/OMIM/604454
altLabel	MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT WDM MYOPATHY, DISTAL, SWEDISH
cui	C0221054
Gene Locus	2p13
Gene Symbol	TIA1 WDM
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU038678 http://purl.bioontology.org/ontology/OMIM/MTHU038676 http://purl.bioontology.org/ontology/OMIM/MTHU038679 http://purl.bioontology.org/ontology/OMIM/MTHU000357 http://purl.bioontology.org/ontology/OMIM/MTHU038682 http://purl.bioontology.org/ontology/OMIM/MTHU038680 http://purl.bioontology.org/ontology/OMIM/MTHU001118 http://purl.bioontology.org/ontology/OMIM/MTHU038683 http://purl.bioontology.org/ontology/OMIM/MTHU038677 http://purl.bioontology.org/ontology/OMIM/MTHU038675 http://purl.bioontology.org/ontology/OMIM/MTHU038681 http://purl.bioontology.org/ontology/OMIM/MTHU036966 http://purl.bioontology.org/ontology/OMIM/MTHU003169 http://purl.bioontology.org/ontology/OMIM/MTHU005706 http://purl.bioontology.org/ontology/OMIM/MTHU000327 http://purl.bioontology.org/ontology/OMIM/MTHU003312
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	604454
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	WELANDER DISTAL MYOPATHY
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