Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Hamartoma Syndrome, Multiple

Synonyms

Dysplastic Gangliocytoma of the Cerebellum

Cowdens Disease

Definitions

A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

ID

http://purl.bioontology.org/ontology/MESH/D006223

altLabel

Dysplastic Gangliocytoma of the Cerebellum

Cowden's Disease

Cowdens Syndrome

Bannayan Zonana Syndrome

Lhermitte Duclos Disease

Bannayan-Riley-Ruvalcaba Syndrome

Riley Smith Syndrome

Ruvalcaba-Myhre Syndrome

Ruvalcaba-Myhre-Smith Syndrome

Cerebellum Dysplastic Gangliocytoma

Cowden's Syndrome

Myhre-Riley-Smith Syndrome

Cowden Syndrome

Bannayan-Zonana Syndrome

Hamartoma Syndromes, Multiple

PTEN Hamartoma Tumor Syndrome

Dysplastic Gangliocytoma of Cerebellum

Ruvalcaba Myhre Smith Syndrome

Cerebellum Dysplastic Gangliocytomas

Bannayan-Ruvalcaba-Riley Syndrome

Myhre Riley Smith Syndrome

Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas

Lhermitte-Duclos Disease

Multiple Hamartoma Syndrome

Riley-Smith Syndrome

Macrocephaly, Multiple Lipomas, and Hemangiomata

Cowden Disease

Bannayan Riley Ruvalcaba Syndrome

Multiple Hamartoma Syndromes

Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata

Cowdens Disease

AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C1959582

C0265326

C0391826

C0018553

DC

1

definition

A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

DX

19910101

HN

91(87); was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000151

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

91; was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90

Mapped from

http://purl.bioontology.org/ontology/MESH/C566636

http://purl.bioontology.org/ontology/MESH/C567337

http://purl.bioontology.org/ontology/MESH/C535849

http://purl.bioontology.org/ontology/MESH/C537292

http://purl.bioontology.org/ontology/MESH/C537656

http://purl.bioontology.org/ontology/MESH/C537222

http://purl.bioontology.org/ontology/MESH/C563564

http://purl.bioontology.org/ontology/MESH/C563565

MDA

19860623

MMR

20180629

MN

C04.651.435

C04.700.435

C04.445.435

C16.320.700.435

notation

D006223

prefLabel

Hamartoma Syndrome, Multiple

TERMUI

T677673

T677674

T782956

T769474

T677679

T018877

T018876

T018875

T677672

T677675

T839728

T677678

T769791

T018878

T840984

T681637

T840983

T677677

T782955

T677676

TH

OMIM (2013)

NLM (2008)

NLM (2012)

NLM (1987)

UNK (19XX)

GHR (2014)

NLM (2011)

ORD (2010)

tui

T047

T191

subClassOf

http://purl.bioontology.org/ontology/MESH/D009378

http://purl.bioontology.org/ontology/MESH/D006222

http://purl.bioontology.org/ontology/MESH/D009386

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q85.81 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-01037 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/67944007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10051906 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/158350 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/722859001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/722859001 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/Xa0Yw RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.440 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234138005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/234138005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10080314 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000758212 PDQ CUI
http://purl.bioontology.org/ontology/RCD/X207k RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10080314 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01043 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10080314 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU017010 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/128791005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/128791005 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/601728 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D006223 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/158350 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-01060 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/67944007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-01005 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10051915 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10051915 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58037000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/601728 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10051916 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000601787 PDQ CUI
http://purl.bioontology.org/ontology/MSHFRE/D006223 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10051916 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/158350 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001406 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10051906 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10051906 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X50H3 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10051915 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10051916 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/58037000 SCTSPA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006223 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.435 RH-MESH LOOM
http://purl.jp/bio/4/id/200906052998160711 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0007398 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038149 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.435 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.435 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.445.435 RH-MESH LOOM