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 |
|
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 |
|
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 |