Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B0b5d25f321ca09e9c19cf97309c446a9> ?p ?o ?g. }
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- B0b5d25f321ca09e9c19cf97309c446a9 hasDbXref "Orphanet:206564" @default.
- B0b5d25f321ca09e9c19cf97309c446a9 type Axiom @default.
- B0b5d25f321ca09e9c19cf97309c446a9 annotatedProperty IAO_0000115 @default.
- B0b5d25f321ca09e9c19cf97309c446a9 annotatedSource MONDO_0013161 @default.
- B0b5d25f321ca09e9c19cf97309c446a9 annotatedTarget "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." @default.