Waardenburg Syndrome Type 2

Download in:

Switch to

Named Graph Language Inference

Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:DISO, calbc-group:GENE
skos:definition	NCI: A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum.
skos:inScheme	lld:umls
skos-xl:prefLabel	umls-label:A16773890
skos-xl:altLabel	umls-label:A16763373, umls-label:A18455397, umls-label:A16761066