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Standards Ontologies Notations
metaphyseal dysplasia

Summary
Synonym
  • Bakwin-Krida syndrome
  • Pyle's disease
  • Pyle-Cohn syndrome
Definition
An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:0080019
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6424 SFRP4 secreted frizzled related protein 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
20379 Sfrp4 secreted frizzled-related protein 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
89803 Sfrp4 secreted frizzled-related protein 4
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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