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DOID:0080047 - pseudoachondroplasia
Disease Ontology Definition:An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
Synonyms: PSEUDOACHONDROPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC, pseudoachondroplastic dysplasia,
Echinobase Genes :
MIM:177170 - pseudoachondroplasia; psach |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)