Visualize Submit Comment

Metadata
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	OMIM:619131
Synonyms	OI21 [EXACT] osteogenesis imperfecta type XXI [EXACT]
Parent Relationships	is_a osteogenesis imperfecta is_a autosomal recessive disease