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Metadata
ID DOID:0111849
Name osteogenesis imperfecta type 20
Definition An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.
https://www.ncbi.nlm.nih.gov/pubmed/31564437
Xrefs

OMIM:618644

Synonyms

OI20 [EXACT]

osteogenesis imperfecta type XX [EXACT]

Parent Relationships

is_a osteogenesis imperfecta

is_a autosomal recessive disease

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