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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 31 - 40 of 82 in total
HPO ID HPO Term
HP:0100578 Lipoatrophy
HP:0000007 Autosomal recessive inheritance
HP:0000158 Macroglossia
HP:0000179 Thick lower lip vermilion
HP:0000240 Abnormality of skull size
HP:0000316 Hypertelorism
HP:0000369 Low-set ears
HP:0000445 Wide nose
HP:0000503 Tortuosity of conjunctival vessels
HP:0000574 Thick eyebrow
Displaying 1 entry
Gene ID Gene Symbol Description
2517 FUCA1 alpha-L-fucosidase 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