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Standards Ontologies Notations
mucopolysaccharidosis IX

Summary
Definition
A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
Super Class
mucopolysaccharidosis
Disease Ontology
DOID:0050809
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3373 HYAL1 hyaluronidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15586 Hyal1 hyaluronoglucosaminidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
367166 Hyal1 hyaluronidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
664772 hyal1 hyaluronidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100498156 hyal1 hyaluronidase 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
174383 chhy-1 Chondroitin hydrolase
The Human Phenotype Ontology
Displaying entries 11 - 15 of 15 in total
HPO ID HPO Term
HP:0006094 Finger joint hypermobility
HP:0000193 Bifid uvula
HP:0011463 Childhood onset
HP:0000934 Chondrocalcinosis
HP:0005072 Wrist hypermobility
Displaying 1 entry
Gene ID Gene Symbol Description
3373 HYAL1 hyaluronidase 1
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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: December 9, 2024