Version: 8.0.0
Date: Tue Jan 28 2025
metatropic dysplasia
DOID:0111514
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

metatropic dysplasia

Definition
A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Synonyms
  • metatropic dwarfism
Cross References
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