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MIRAGE
osteogenesis imperfecta type 12

Summary
Synonym
  • OI12
  • osteogenesis imperfecta type XII
Definition
An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
Super Class
autosomal recessive disease osteogenesis imperfecta
Disease Ontology
DOID:0110348
Mondo Disease Ontology
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
121340 SP7 Sp7 transcription factor
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8TDD2 Transcription factor Sp7
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026