OBO ID: DOID:0110340
Term Name: osteogenesis imperfecta type 4 Search Ontology:
Synonyms:
  • OI4
  • osteogenesis imperfecta type IV
  • osteogenesis imperfecta with normal sclera
Definition: An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (2)
References:
Ontology: Human Disease   ( DOID:0110340 )
Relationships
is a type of:
OTHER osteogenesis imperfecta type 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL1A1 Osteogenesis imperfecta, type IV 166220
COL1A2 Osteogenesis imperfecta, type IV 166220
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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