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 131 - 135 of 135 in total
Gene ID Gene Symbol Description Source
135228 CD109 CD109 molecule
139189 DGKK diacylglycerol kinase kappa
151056 PLB1 phospholipase B1
284004 HEXD hexosaminidase D
347527 ARSH arylsulfatase family member H

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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