Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4561fdefca747d8ddcc6a3ca61918142> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B4561fdefca747d8ddcc6a3ca61918142 hasDbXref "Orphanet:199329" @default.
- B4561fdefca747d8ddcc6a3ca61918142 type Axiom @default.
- B4561fdefca747d8ddcc6a3ca61918142 annotatedProperty IAO_0000115 @default.
- B4561fdefca747d8ddcc6a3ca61918142 annotatedSource MONDO_0016049 @default.
- B4561fdefca747d8ddcc6a3ca61918142 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.