Search Ontology:
Human Disease

osteogenesis imperfecta type 20

Term ID
DOID:0111849
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. https://www.ncbi.nlm.nih.gov/pubmed/31564437
References
Ontology
Human Disease   ( DOID:0111849 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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