Term Name: | pseudoachondroplasia |
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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 ) |