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DOID:0111554 - spondylometaphyseal dysplasia Kozlowski type
Disease Ontology 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.
Synonyms: Jequier Kozlowski skeletal dysplasia, Jequier-Kozlowski syndrome, SMD Kozlowski type, dysmorphism arthrogryposis skeletal maturation advanced, skeletal dysplasia Jequier-Kozlowski type,
Xenbase Genes
:
trpv4
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),
metaphyseal dysplasia (is_a),
spondylometaphyseal dysplasia (is_a)