| Metadata | |
|---|---|
| ID | DOID:0111554 |
| Name | spondylometaphyseal dysplasia 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254077000 |
| Subsets |
DO_rare_slim |
| Synonyms |
dysmorphism arthrogryposis skeletal maturation advanced [EXACT] Jequier Kozlowski skeletal dysplasia [EXACT] Jequier-Kozlowski syndrome [EXACT] skeletal dysplasia Jequier-Kozlowski type [EXACT] SMD Kozlowski type [EXACT] |
| Parent Relationships |