Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bccc75197338c802a36d2805b669587b5> ?p ?o ?g. }
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- Bccc75197338c802a36d2805b669587b5 hasDbXref "NCIT:C126691" @default.
- Bccc75197338c802a36d2805b669587b5 type Axiom @default.
- Bccc75197338c802a36d2805b669587b5 annotatedProperty IAO_0000115 @default.
- Bccc75197338c802a36d2805b669587b5 annotatedSource MONDO_0011271 @default.
- Bccc75197338c802a36d2805b669587b5 annotatedTarget "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." @default.