COWDEN SYNDROME 1

BBRS

http://purl.bioontology.org/ontology/OMIM/158350

BBRS

CS

CPD6

CEREBELLOPARENCHYMAL DISORDER VI

CD

LHERMITTE-DUCLOS DISEASE

PROTEUS-LIKE SYNDROME

BANNAYAN-ZONANA SYNDROME

RUVALCABA-MYHRE-SMITH SYNDROME

CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY

CWS1

RMSS

BZS

BANNAYAN-RILEY-RUVALCABA SYNDROME

LDD

MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA

MHAM

PTEN HAMARTOMA TUMOR SYNDROME

PTEN HAMARTOMA TUMOR SYNDROME WITH GRANULAR CELL TUMOR

RILEY-SMITH SYNDROME

MULTIPLE HAMARTOMA SYNDROME

DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM

MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA

PHTS

C1834712

C1959582

C1866398

C1834711

C1866376

C0391826

C0018553

10q23.31

CWS1

MMAC1

PTEN

GLM2

http://purl.bioontology.org/ontology/OMIM/MTHU017027

http://purl.bioontology.org/ontology/OMIM/MTHU024055

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU017022

http://purl.bioontology.org/ontology/OMIM/MTHU024053

http://purl.bioontology.org/ontology/OMIM/MTHU036377

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU000068

http://purl.bioontology.org/ontology/OMIM/MTHU017028

http://purl.bioontology.org/ontology/OMIM/MTHU017016

http://purl.bioontology.org/ontology/OMIM/MTHU017039

http://purl.bioontology.org/ontology/OMIM/MTHU014594

http://purl.bioontology.org/ontology/OMIM/MTHU036543

http://purl.bioontology.org/ontology/OMIM/MTHU017029

http://purl.bioontology.org/ontology/OMIM/MTHU017025

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU017015

http://purl.bioontology.org/ontology/OMIM/MTHU017020

http://purl.bioontology.org/ontology/OMIM/MTHU067283

http://purl.bioontology.org/ontology/OMIM/MTHU008216

http://purl.bioontology.org/ontology/OMIM/MTHU017010

http://purl.bioontology.org/ontology/OMIM/MTHU017008

http://purl.bioontology.org/ontology/OMIM/MTHU004223

http://purl.bioontology.org/ontology/OMIM/MTHU017038

http://purl.bioontology.org/ontology/OMIM/MTHU036912

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU017023

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU017037

http://purl.bioontology.org/ontology/OMIM/MTHU001214

http://purl.bioontology.org/ontology/OMIM/MTHU001684

http://purl.bioontology.org/ontology/OMIM/MTHU007455

http://purl.bioontology.org/ontology/OMIM/MTHU044639

http://purl.bioontology.org/ontology/OMIM/MTHU017021

http://purl.bioontology.org/ontology/OMIM/MTHU026521

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000912

http://purl.bioontology.org/ontology/OMIM/MTHU006263

http://purl.bioontology.org/ontology/OMIM/MTHU036938

http://purl.bioontology.org/ontology/OMIM/MTHU017013

http://purl.bioontology.org/ontology/OMIM/MTHU017032

http://purl.bioontology.org/ontology/OMIM/MTHU017035

http://purl.bioontology.org/ontology/OMIM/MTHU017031

http://purl.bioontology.org/ontology/OMIM/MTHU036940

http://purl.bioontology.org/ontology/OMIM/MTHU036941

http://purl.bioontology.org/ontology/OMIM/MTHU017019

http://purl.bioontology.org/ontology/OMIM/MTHU043282

http://purl.bioontology.org/ontology/OMIM/MTHU067282

http://purl.bioontology.org/ontology/OMIM/MTHU005511

http://purl.bioontology.org/ontology/OMIM/MTHU007730

http://purl.bioontology.org/ontology/OMIM/MTHU036939

http://purl.bioontology.org/ontology/OMIM/MTHU017018

http://purl.bioontology.org/ontology/OMIM/MTHU003590

http://purl.bioontology.org/ontology/OMIM/MTHU017026

http://purl.bioontology.org/ontology/OMIM/MTHU017036

http://purl.bioontology.org/ontology/OMIM/MTHU067281

http://purl.bioontology.org/ontology/OMIM/MTHU017030

http://purl.bioontology.org/ontology/OMIM/MTHU017034

http://purl.bioontology.org/ontology/OMIM/MTHU016093

http://purl.bioontology.org/ontology/OMIM/MTHU017017

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU001215

http://purl.bioontology.org/ontology/OMIM/MTHU067280

Phenotype description, molecular basis known.

612359

615106

153480

158350

3

pound

COWDEN SYNDROME 1

Skin lesions are fully penetrant by second decade [MISCELLANEOUS]

Symptoms usually occur in adults [MISCELLANEOUS]

Skeletal abnormalities are variable [MISCELLANEOUS]

Caused by mutation in the phosphatase and tensin homolog gene (PTEN, 601728.0001) [MOLECULAR BASIS]

Approximately 80% of CS patients have PTEN mutations [MISCELLANEOUS]

T047

T191