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Standards Ontologies Notations
pseudoxanthoma elasticum

Summary
Synonym
  • Gronblad-Strandberg syndrome
Definition
A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Super Class
autosomal recessive disease connective tissue disease
External Links
Disease Ontology
DOID:2738
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 42 in total
Gene ID Gene Symbol Description Source
9526 MPDU1 mannose-P-dolichol utilization defect 1
9663 LPIN2 lipin 2
10682 EBP EBP cholestenol delta-isomerase
10908 PNPLA6 patatin like phospholipase domain containing 6
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
27306 HPGDS hematopoietic prostaglandin D synthase
56983 POGLUT1 protein O-glucosyltransferase 1
57104 PNPLA2 patatin like phospholipase domain containing 2
64131 XYLT1 xylosyltransferase 1
64132 XYLT2 xylosyltransferase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
18605 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
217119 Xylt2 xylosyltransferase II
233781 Xylt1 xylosyltransferase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
64133 Xylt1 xylosyltransferase 1
64134 Xylt2 xylosyltransferase 2
85496 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38288 oxt peptide O-xylosyltransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
560951 xylt1 xylosyltransferase I
563446 xylt2 xylosyltransferase II
Displaying all 5 entries
Gene ID Gene Symbol Description Source Organism
444363 xylt1.L xylosyltransferase I L homeolog Xenopus laevis (African clawed frog)
448400 xylt2 xylosyltransferase II Xenopus tropicalis (tropical clawed frog)
100145490 xylt1 xylosyltransferase I Xenopus tropicalis (tropical clawed frog)
108701100 xylt2.L xylosyltransferase II L homeolog Xenopus laevis (African clawed frog)
108703114 xylt1.S xylosyltransferase I S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
190099 sqv-6 Xylosyltransferase sqv-6;protein xylosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 51 - 55 of 55 in total
HPO ID HPO Term
HP:0004943 Accelerated atherosclerosis
HP:0007663 Reduced visual acuity
HP:0011506 Choroidal neovascularization
HP:0012426 Optic disc drusen
HP:0100817 Renovascular hypertension
Displaying all 3 entries
Gene ID Gene Symbol Description
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
64131 XYLT1 xylosyltransferase 1
64132 XYLT2 xylosyltransferase 2
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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: August 19, 2024