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spondylometaphyseal dysplasia

Summary
Definition
An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:0112295
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54 ACP5 acid phosphatase 5, tartrate resistant
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P13686 Tartrate-resistant acid phosphatase type 5
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 4, 2025