DISEASES

Disease-gene associations mined from literature

Human genes for pseudoachondroplasia

Pseudoachondroplasia [DOID:0080047]

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.

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

Linkouts:  OMIM