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Standards Ontologies Notations
fucosidosis

Summary
Synonym
  • A-fucosidase deficiency
  • alpha fucosidase deficiency
Super Class
lysosomal storage disease
Disease Ontology
DOID:14500
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2517 FUCA1 alpha-L-fucosidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
71665 Fuca1 fucosidase, alpha-L- 1, tissue
Displaying 1 entry
Gene ID Gene Symbol Description Source
24375 Fuca1 alpha-L-fucosidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
3772574 Fuca alpha-L-fucosidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
189173 W03G11.3 Putative alpha-L-fucosidase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04066 Tissue alpha-L-fucosidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 82 in total
HPO ID HPO Term
HP:0000164 Abnormality of the dentition
HP:0000248 Brachycephaly
HP:0000280 Coarse facial features
HP:0000365 Hearing impairment
HP:0000821 Hypothyroidism
HP:0000943 Dysostosis multiplex
HP:0000975 Hyperhidrosis
HP:0001063 Acrocyanosis
HP:0001250 Seizure
HP:0001252 Hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
2517 FUCA1 alpha-L-fucosidase 1
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International Collaboration

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