OBO ID: DOID:0080844 |
Term Name: | omodysplasia 1 | Search Ontology: | |
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Definition: | An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. https://pubmed.ncbi.nlm.nih.gov/17823719/ | ||
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Ontology: | Human Disease ( DOID:0080844 ) |
OTHER omodysplasia 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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