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Hamartoma Syndrome, Multiple

Disease ID: disease_node_3657

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DbxrefGARD:6202, ICDO:9493/0, MESH:D006223, MIM:PS158350, NCI:C3076, NCI:C8419, ORDO:201, SNOMEDCT_US_2023_03_01:58037000, SNOMEDCT_US_2023_03_01:67944007, UMLS_CUI:C0018553, UMLS_CUI:C0391826
SubclassofDOID_0080191
Data SourceDOID, MESH
SynonymsCowden disease, Lhermitte-Duclos disease, dysplastic Gangliocytoma of Cerebellum, multiple hamartoma syndrome
Mesh IdD006223
Mesh LabelHamartoma Syndrome, Multiple
Mesh SubclassofD006222, D009378, D009386
Doid LabelCowden syndrome
Doid DescriptionA PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. Xref MGI. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_3657
Doid IdDOID_6457
LabelHamartoma Syndrome, Multiple
Doid Alternate IdsDOID_3471