sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
developmental defect during embryogenesis
malformation of the neurenteric canal, spinal cord and column
Monarch Disease Ontology release 2018-06-29
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal