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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 1 - 10 of 15 in total
HPO ID HPO Term
HP:0003170 Abnormal acetabulum morphology
HP:0004322 Short stature
HP:0004626 Lumbar scoliosis
HP:0000403 Recurrent otitis media
HP:0010485 Hyperextensibility at elbow
HP:0000176 Submucous cleft hard palate
HP:0005280 Depressed nasal bridge
HP:0100769 Synovitis
HP:0003621 Juvenile onset
HP:0000007 Autosomal recessive inheritance
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