OBO ID: DOID:0111848
Term Name: osteogenesis imperfecta type 18 Search Ontology:
Synonyms:
  • OI18
  • osteogenesis imperfecta, type XVIII
Definition: An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. https://www.ncbi.nlm.nih.gov/pubmed/29358272
References:
Ontology: Human Disease   ( DOID:0111848 )
Relationships
is a type of:
OTHER osteogenesis imperfecta type 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TENT5A Osteogenesis imperfecta, type XVIII 617952
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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