Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615109 http://purl.bioontology.org/ontology/OMIM/615109
Preferred Name	COWDEN SYNDROME 6
Synonyms	CWS6
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CWS6
prefLabel	COWDEN SYNDROME 6
Gene Symbol	CWS6 AKT1
Scope Statement	Based on a report of 2 patients (last curated February 2013) [MISCELLANEOUS] Caused by mutation in the AKT serine/threonine kinase 1 gene (AKT1, 164730.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU017027 http://purl.bioontology.org/ontology/OMIM/MTHU079549 http://purl.bioontology.org/ontology/OMIM/MTHU079550 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU016105 http://purl.bioontology.org/ontology/OMIM/MTHU079548 See more See less
tui	T047
Gene Locus	14q32.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615109
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3554519
OMIM Entry Type	3
OMIM MimType Value	pound

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