OBO ID: DOID:0112201
Term Name: osteogenesis imperfecta type 21 Search Ontology:
Synonyms:
  • OI21
  • osteogenesis imperfecta type XXI
Definition: An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. https://pubmed.ncbi.nlm.nih.gov/33053334/
References:
Ontology: Human Disease   (DOID:0112201)
OTHER osteogenesis imperfecta type 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KDELR2 Osteogenesis imperfecta, type XXI 619131
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None