DISEASES

Disease-gene associations mined from literature

Human genes for spondyloepimetaphyseal dysplasia

Spondyloepimetaphyseal dysplasia [DOID:0080027]

An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.

Synonyms:  spondyloepimetaphyseal dysplasia,  DOID:0080027