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English
Cowden syndrome 6
rare genetic disease
CWS6
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Statements
instance of
disease
2 references
stated in
Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome
stated in
Gene-Rare Disease-Provenance dataset collection
rare disease
1 reference
stated in
Gene-Rare Disease-Provenance dataset collection
subclass of
Cowden syndrome 1
0 references
genetic association
AKT1
1 reference
stated in
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes
Identifiers
Mondo ID
MONDO_0014048
0 references
OMIM ID
615109
1 reference
stated in
Online Mendelian Inheritance in Man
UniProt disease ID
DI-03697
0 references
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