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- B7bbe879e600f2b71ec34987b2a61e8f4 hasDbXref "Orphanet:2909" @default.
- B7bbe879e600f2b71ec34987b2a61e8f4 type Axiom @default.
- B7bbe879e600f2b71ec34987b2a61e8f4 annotatedProperty IAO_0000115 @default.
- B7bbe879e600f2b71ec34987b2a61e8f4 annotatedSource MONDO_0010002 @default.
- B7bbe879e600f2b71ec34987b2a61e8f4 annotatedTarget "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." @default.