DISEASES

Disease-gene associations mined from literature

Human genes for pseudoachondroplasia

Pseudoachondroplasia [DOID:0080047]

An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.

Synonyms:  pseudoachondroplasia,  DOID:0080047,  SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC,  pseudoachondroplastic dysplasia,  PSEUDOACHONDROPLASTIC SPONDYLOEPIPHYSEAL DYSPLASIA ...