OBO ID: DOID:0111608 |
Term Name: | distal arthrogryposis type 5 | Search Ontology: | |
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Definition: | A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (2) | ||
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Ontology: | Human Disease ( DOID:0111608 ) |
OTHER distal arthrogryposis type 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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