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- B421af4e32ab0d6c0c528cbbf09f51a40 hasDbXref "Orphanet:3409" @default.
- B421af4e32ab0d6c0c528cbbf09f51a40 type Axiom @default.
- B421af4e32ab0d6c0c528cbbf09f51a40 annotatedProperty IAO_0000115 @default.
- B421af4e32ab0d6c0c528cbbf09f51a40 annotatedSource MONDO_0009905 @default.
- B421af4e32ab0d6c0c528cbbf09f51a40 annotatedTarget "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." @default.