Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B751f08e541e3c53dccb7c1a4d607b20a> ?p ?o ?g. }
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- B751f08e541e3c53dccb7c1a4d607b20a hasDbXref "Orphanet:199329" @default.
- B751f08e541e3c53dccb7c1a4d607b20a type Axiom @default.
- B751f08e541e3c53dccb7c1a4d607b20a annotatedProperty IAO_0000115 @default.
- B751f08e541e3c53dccb7c1a4d607b20a annotatedSource MONDO_0016049 @default.
- B751f08e541e3c53dccb7c1a4d607b20a annotatedTarget "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." @default.