Marfan syndrome

Summary
Synonym
  • Marfan's syndrome
Definition
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Super Class
aortic disease connective tissue disease eye disease
External Links
Disease Ontology
DOID:14323
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 101 - 110 of 135 in total
Gene ID Gene Symbol Description Source
10724 OGA O-GlcNAcase
11141 IL1RAPL1 interleukin 1 receptor accessory protein like 1
22845 DOLK dolichol kinase
23417 MLYCD malonyl-CoA decarboxylase
23443 SLC35A3 solute carrier family 35 member A3
23483 TGDS TDP-glucose 4,6-dehydratase
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
23600 AMACR alpha-methylacyl-CoA racemase
23659 PLA2G15 phospholipase A2 group XV
26033 ATRNL1 attractin like 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: August 19, 2024