OBO ID: DOID:0111514 |
Term Name: | metatropic dysplasia | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111514 ) |
OTHER metatropic dysplasia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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