Search Ontology:
Human Disease

osteogenesis imperfecta type 19

Term ID
DOID:0111847
Synonyms
  • OI19
  • osteogenesis imperfecta type XIX
Definition
An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. https://www.ncbi.nlm.nih.gov/pubmed/27380894
References
Ontology
Human Disease   ( DOID:0111847 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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