Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb0e0ec8fd47f096e988c3707954a9ea8> ?p ?o ?g. }
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- Bb0e0ec8fd47f096e988c3707954a9ea8 hasDbXref "Orphanet:201" @default.
- Bb0e0ec8fd47f096e988c3707954a9ea8 type Axiom @default.
- Bb0e0ec8fd47f096e988c3707954a9ea8 annotatedProperty IAO_0000115 @default.
- Bb0e0ec8fd47f096e988c3707954a9ea8 annotatedSource MONDO_0016063 @default.
- Bb0e0ec8fd47f096e988c3707954a9ea8 annotatedTarget "A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group." @default.