OBO ID: DOID:0111847
Term Name: osteogenesis imperfecta type 19 Search Ontology:
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 osteogenesis imperfecta type 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MBTPS2 Osteogenesis imperfecta, type XIX 301014
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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