Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1dff02fece3e97982339f3dd1765d1bf> ?p ?o ?g. }
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- B1dff02fece3e97982339f3dd1765d1bf hasDbXref "Orphanet:206554" @default.
- B1dff02fece3e97982339f3dd1765d1bf type Axiom @default.
- B1dff02fece3e97982339f3dd1765d1bf annotatedProperty IAO_0000115 @default.
- B1dff02fece3e97982339f3dd1765d1bf annotatedSource MONDO_0012699 @default.
- B1dff02fece3e97982339f3dd1765d1bf annotatedTarget "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." @default.