Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4e630cdef87f4568bd49dc68165d88f7> ?p ?o ?g. }
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- B4e630cdef87f4568bd49dc68165d88f7 hasDbXref "Orphanet:276432" @default.
- B4e630cdef87f4568bd49dc68165d88f7 type Axiom @default.
- B4e630cdef87f4568bd49dc68165d88f7 annotatedProperty IAO_0000115 @default.
- B4e630cdef87f4568bd49dc68165d88f7 annotatedSource MONDO_0010457 @default.
- B4e630cdef87f4568bd49dc68165d88f7 annotatedTarget "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." @default.