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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
pseudoachondroplasia
Summary
- Synonym
-
- SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
- pseudoachondroplastic dysplasia
- Definition
- An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080047
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
