Search Ontology:
Human Disease

spondylometaphyseal dysplasia Kozlowski type

Term ID
DOID:0111554
Synonyms
  • dysmorphism arthrogryposis skeletal maturation advanced
  • Jequier Kozlowski skeletal dysplasia
  • Jequier-Kozlowski syndrome
  • skeletal dysplasia Jequier-Kozlowski type
  • SMD Kozlowski type
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. https://www.ncbi.nlm.nih.gov/pubmed/19232556
References
Ontology
Human Disease   ( DOID:0111554 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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