- Behr syndrome [DOID:0111580]
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
- kyphosis [DOID:4667]
A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column.
- spondylosis [DOID:2247]
A bone structure disease that involves degeneration between vertebra located_in vertebral column.
- Paget's disease of bone [DOID:5408]
A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
- acromesomelic dysplasia, Maroteaux type [DOID:0080050]
An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.
- achondrogenesis type II [DOID:0080056]
An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.