OBO ID: DOID:0112201 |
Term Name: | osteogenesis imperfecta type 21 | Search Ontology: | |
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Definition: | An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. https://pubmed.ncbi.nlm.nih.gov/33053334/ | ||
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Ontology: | Human Disease ( DOID:0112201 ) |
OTHER osteogenesis imperfecta type 21 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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