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Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D006223
http://purl.bioontology.org/ontology/MESH/D006223
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|---|---|
| Preferred Name | Hamartoma Syndrome, Multiple |
| 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.
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| Synonyms |
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
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
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| 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
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| prefLabel | Hamartoma Syndrome, Multiple
|
| TH |
OMIM (2013)
NLM (2008)
NLM (2012)
NLM (1987)
UNK (19XX)
GHR (2014)
NLM (2011)
ORD (2010)
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| notation | D006223
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| DX | 19910101
|
| Machine permutation | 91; was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90
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| MN |
C04.651.435
C04.700.435
C04.445.435
C16.320.700.435
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| MMR | 20180629
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| Mapped from |
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| 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
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| HN | 91(87); was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90
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| subClassOf | |
| Semantic type UMLS property | |
| DC | 1
|
| MDA | 19860623
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| type | |
| tui |
T047
T191
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| cui |
C1959582
C0265326
C0391826
C0018553
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| Inverse of AQ |
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| TERMUI |
T677673
T677674
T782956
T769474
T677679
T018877
T018876
T018875
T677672
T677675
T839728
T677678
T769791
T018878
T840984
T681637
T840983
T677677
T782955
T677676
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