loading...| Preferred Name |
Hamartoma Syndrome, Multiple |
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| Synonyms |
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| Definitions |
An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038149 |
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| Database_Cross_Reference |
NCI_NCI-GLOSS:CDR0000641941 MTH:NOCODE NCI:C3076 MEDCIN:33109 MDR:10051916 MDR:10051915 NDFRT:N0000001406 CHV:0000005785 NCI_NCI-GLOSS:CDR0000641942 MDR:10051906 NCI_NCI-GLOSS:CDR0000641943 DO:DOID:6457 OMIM:158350 SNM:D-5002 SNMI:D4-01005 LCH_NW:sh2008009754 SNOMEDCT_US:58037000 RCD:X50H3 MSH:D006223 |
|
| Definition |
An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. |
|
| label |
Hamartoma Syndrome, Multiple |
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| MCID |
MC00005935 |
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| PMOID |
PMO:00038149 |
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| prefixIRI |
pmo:PMO_00038149 |
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| prefLabel |
Hamartoma Syndrome, Multiple |
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| Synonym |
cowden disease Multiple hamartoma syndrome dysplastic Gangliocytoma of Cerebellum CWS1 multiple hamartoma syndrome COWDEN DIS CS COWDEN SYNDROME 1 CD Cowden Disease cowdens syndrome Hamartoma Syndrome, Multiple [Disease/Finding] MULTIPLE HAMARTOMA SYNDROME Cowden syndrome (disorder) Cowden's disease cowden syndrome cowden's disease Cowdens Disease Cowden's Disease Cowden syndrome (diagnosis) cowden's syndrome PTEN Hamartoma Syndrome cowdens disease Multiple Hamartoma Syndrome Cowden Syndrome Hamartoma Syndromes, Multiple Cowden's Syndrome Cowden syndrome Lhermitte-Duclos disease Cowdens Syndrome cowdens syndromes COWDENS DIS Cowden disease MHAM Multiple Hamartoma Syndromes Cowden's syndrome |
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| Tree Number |
T9.8.4.36.6 T9.12.14.1 T9.12.7.6 T9.12.15.1 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00038144 http://www.phoc.org.cn/pmo/class/PMO_00038140 |