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sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development.
Mondo Term and Equivalent IDs
MONDO:0014314:  sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Orphanet:397927: 
UMLS:C3810343: