Search Ontology:
Human Disease

metatropic dysplasia

Term ID
DOID:0111514
Synonyms
  • metatropic dwarfism
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. (3)
References
Ontology
Human Disease   ( DOID:0111514 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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