Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613195 http://purl.bioontology.org/ontology/OMIM/613195
Preferred Name	WEILL-MARCHESANI SYNDROME 4
Synonyms	WMSL WMS4 WEILL-MARCHESANI-LIKE SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	WMSL WMS4 WEILL-MARCHESANI-LIKE SYNDROME
prefLabel	WEILL-MARCHESANI SYNDROME 4
Gene Symbol	WMS4 ADAMTS17
Scope Statement	Caused by mutation in the ADAM metallopeptidase domain with thrombospondin type 1 motif, 17 gene (ADAMTS17, 607511.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU032993 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU030256 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU060443 http://purl.bioontology.org/ontology/OMIM/MTHU004673 http://purl.bioontology.org/ontology/OMIM/MTHU041462 http://purl.bioontology.org/ontology/OMIM/MTHU039374 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU060444 http://purl.bioontology.org/ontology/OMIM/MTHU042979 http://purl.bioontology.org/ontology/OMIM/MTHU060442 See more See less
tui	T047
Gene Locus	15q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613195
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C2750787
OMIM Entry Type	3
OMIM MimType Value	pound

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