Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614819 http://purl.bioontology.org/ontology/OMIM/614819
Preferred Name	WEILL-MARCHESANI SYNDROME 3
Synonyms	WMS3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	WMS3
prefLabel	WEILL-MARCHESANI SYNDROME 3
Gene Symbol	GLC3D LTBP2 WMS3 MSPKA LTBP3
Scope Statement	Caused by mutation in the latent transforming growth factor-beta-binding protein 2 gene (LTBP2, 602091.0012) [MOLECULAR BASIS] Based on 1 family (last curated September 2012) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002325 http://purl.bioontology.org/ontology/OMIM/MTHU002713 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU037728 http://purl.bioontology.org/ontology/OMIM/MTHU002342 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU004673 http://purl.bioontology.org/ontology/OMIM/MTHU012748 http://purl.bioontology.org/ontology/OMIM/MTHU002343 http://purl.bioontology.org/ontology/OMIM/MTHU000145 See more See less
tui	T047
Gene Locus	14q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614819
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3553785
OMIM Entry Type	3
OMIM MimType Value	pound

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