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Disease Ontology Browser
parastremmatic dwarfism (DOID:0111539)
Alliance: disease page
Synonyms: parastremmatic dysplasia
Alt IDs: OMIM:168400, MESH:C537172, ORDO:2646, UMLS_CUI:C1868616
Definition: An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.

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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory