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Disease Ontology Browser
pseudoachondroplasia (DOID:0080047)
Alliance: disease page
Synonyms: pseudoachondroplastic dysplasia; SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
Alt IDs: OMIM:177170, DOID:14800, MESH:C535819
Definition: An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.

Disease References using Mouse Models (5)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory