Metadata | |
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ID | DOID:0112201 |
Name | osteogenesis imperfecta type 21 |
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/ |
Xrefs | |
Synonyms |
OI21 [EXACT] osteogenesis imperfecta type XXI [EXACT] |
Parent Relationships |