Term Name: pseudoachondroplasia
Synonyms: pseudoachondroplastic dysplasia, SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
Definition: An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
Ontology: Human Disease [DOID:0080047]   ( DOID:0080047 )

Relationships
is a type of: autosomal dominant disease osteochondrodysplasia