Cowden disease
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
MONDO:0015185
intestinal polyposis syndrome
excluded_subClassOf
MONDO:0015356
hereditary neoplastic syndrome
excluded_subClassOf
MONDO:0017623
PTEN hamartoma tumor syndrome
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0100118
hereditary skin disorder
is_a
CD
related
Cowden disease
exact
Cowden syndrome
exact
Cowden's disease
exact
MHAM
related
multiple hamartoma syndrome
exact
SPBC609.02 SPBC776.04 SPAC22E12.14c SPCC24B10.07 SPAC1B9.02c SPCC31H12.07