FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondylometaphyseal dysplasia Kozlowski type ID (Ontology) DOID:0111554 (Human Disease)
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.
Also Known As "dysmorphism arthrogryposis skeletal maturation advanced" ; "Jequier Kozlowski skeletal dysplasia" ; "Jequier-Kozlowski syndrome" (for all, see Synonyms field below)
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 Genes
 spondylometaphyseal dysplasia Kozlowski type       1
 for disease ribbon | spondylometaphyseal dysplasia Kozlowski type       1
 model of | spondylometaphyseal dysplasia Kozlowski type       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
osteochondrodysplasia              |
 |__spondylometaphyseal dysplasia__|
                                   spondylometaphyseal dysplasia Kozlowski type  1 rec.
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Is a autosomal dominant disease
spondylometaphyseal dysplasia
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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
Secondary IDs
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GARD:3047
MESH:C535797
MIM:184252
ORDO:93314
SNOMEDCT_US_2023_03_01:254077000
UMLS_CUI:C0265280