FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Cowden syndrome 1 ID (Ontology) DOID:0050657 (Human Disease)
Definition A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
Also Known As "PHTS" ; "PTEN hamartoma tumor syndrome"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes Human Disease Models
 Cowden syndrome 1       1      1
 for disease ribbon | Cowden syndrome 1       1       --
 model of | Cowden syndrome 1       1       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
hamartoma syndrome              |
 |__Cowden syndrome_____________|
                                Cowden syndrome 1  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
Cowden syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Bannayan-Riley-Ruvalcaba syndrome" NARROW
    "Bannayan-Zonana syndrome" NARROW
    "BRRS" NARROW OMO:0003012
    "dysplastic cerebellar gangliocytoma" NARROW
    "dysplastic gangliocytoma of cerebellum" NARROW
    "Lhermitte-Duclos disease" NARROW
    "PHTS" EXACT OMO:0003012
    "Proteus-like syndrome" NARROW
    "PTEN hamartoma tumor syndrome" EXACT
    "Riley-Smith syndrome" NARROW
    "Ruvalcaba-Myhre-Smith syndrome" NARROW
    "segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome" NARROW
    "SOLAMEN syndrome" NARROW
Secondary IDs
hide External Crossreferences & Linkouts
GARD:12800
GARD:5887
GARD:6901
ICD10CM:Q85.81
ICD10CM:Q87.89
ICDO:9493/0
MESH:D006223
MESH:D016715
MIM:158350
NCI:C179915
NCI:C179930
NCI:C3939
NCI:C8419
ORDO:109
ORDO:137608
ORDO:306498
ORDO:65285
SNOMEDCT_US_2023_03_01:67944007
SNOMEDCT_US_2025_03_01:716862002
SNOMEDCT_US_2025_03_01:763867001
SNOMEDCT_US_2025_05_01:722859001
UMLS_CUI:C0391826
UMLS_CUI:C1866398
UMLS_CUI:C1959582
UMLS_CUI:C4706610