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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

MIM:619131
Synonyms

OI21 [EXACT]

osteogenesis imperfecta type XXI [EXACT]
Parent Relationships

is_a osteogenesis imperfecta

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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