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Disease Ontology Browser
spondylometaphyseal dysplasia Kozlowski type (DOID:0111554)
Alliance: disease page
Synonyms: dysmorphism arthrogryposis skeletal maturation advanced; Jequier Kozlowski skeletal dysplasia; Jequier-Kozlowski syndrome; skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type
Alt IDs: OMIM:184252, MESH:C535797, ORDO:93314, UMLS_CUI:C0265280
Definition: A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis 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
11/12/2024
MGI 6.24 		The Jackson Laboratory