multiple hamartoma syndrome
(Q3508737)
syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene
syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene
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Current Data About
multiple hamartoma syndrome
| (P31) |
(Q55788864)
(Q112193867) |
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| (P279) |
(Q179630)
(Q55789095)
(Q55785832)
(Q55788604)
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| (P1995) |
(Q162555)
(Q1071953) |
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| (P2293) |
(Q14878377)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0080191
http://identifiers.org/doid/DOID:0080191
http://www.orpha.net/ORDO/Orphanet_306498 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
PTEN hamartoma tumor syndrome PHTS Hamartoma Syndrome, Multiple |
| description | syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene |
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