Term Name: osteogenesis imperfecta type 20
Synonyms: OI20, osteogenesis imperfecta type XX
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.
Ontology: Human Disease [DOID:0111849]   ( DOID:0111849 )

Relationships
is a type of: autosomal recessive disease osteogenesis imperfecta