acrodysostosis

Summary
Definition
A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
Super Class
dysostosis
External Links
Disease Ontology
DOID:14669
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
2023 ENO1 enolase 1
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P06733 Alpha-enolase
P07741 Adenine phosphoribosyltransferase

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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 19, 2024