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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 21 - 30 of 82 in total
HPO ID HPO Term
HP:0003199 Decreased muscle mass
HP:0005264 Abnormality of the gallbladder
HP:0005595 Generalized hyperkeratosis
HP:0007256 Abnormal pyramidal sign
HP:0007957 Corneal opacity
HP:0008155 Mucopolysacchariduria
HP:0008430 Anterior beaking of lumbar vertebrae
HP:0010864 Intellectual disability, severe
HP:0011220 Prominent forehead
HP:0011276 Vascular skin abnormality
Displaying 1 entry
Gene ID Gene Symbol Description
2517 FUCA1 alpha-L-fucosidase 1
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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