OBO ID: DOID:0111539 |
Term Name: | parastremmatic dwarfism | Search Ontology: | |
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Definition: | An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (2) | ||
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Ontology: | Human Disease ( DOID:0111539 ) |
OTHER parastremmatic dwarfism PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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