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- B644425b37bee7dc283c8305029f26b0c hasDbXref "NCIT:C126691" @default.
- B644425b37bee7dc283c8305029f26b0c type Axiom @default.
- B644425b37bee7dc283c8305029f26b0c annotatedProperty IAO_0000115 @default.
- B644425b37bee7dc283c8305029f26b0c annotatedSource MONDO_0011271 @default.
- B644425b37bee7dc283c8305029f26b0c 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.