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Standards Ontologies Notations
osteogenesis imperfecta type 8

Summary
Synonym
  • OI8
  • osteogenesis imperfecta type VIII
Definition
An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.
Super Class
autosomal recessive disease osteogenesis imperfecta
Disease Ontology
DOID:0110336
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
64175 P3H1 prolyl 3-hydroxylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
56401 P3h1 prolyl 3-hydroxylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
114200 P3h1 prolyl 3-hydroxylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
178435 Y73F8A.26 Uncharacterized protein
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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: December 9, 2024