Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd3a0fb19811ba45cd57a01fc1c765cec> ?p ?o ?g. }
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- Bd3a0fb19811ba45cd57a01fc1c765cec hasDbXref "Orphanet:445110" @default.
- Bd3a0fb19811ba45cd57a01fc1c765cec type Axiom @default.
- Bd3a0fb19811ba45cd57a01fc1c765cec annotatedProperty IAO_0000115 @default.
- Bd3a0fb19811ba45cd57a01fc1c765cec annotatedSource MONDO_0014489 @default.
- Bd3a0fb19811ba45cd57a01fc1c765cec annotatedTarget "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." @default.