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Summary Literature (0)
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, pseudoachondroplastic dysplasia, SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC

Xenbase Genes : comp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008322 - pseudoachondroplasia

MIM:
MIM:177170 - PSEUDOACHONDROPLASIA; PSACH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)