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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

MONDO:0007947

MeSH

D008382

UMLS

C0024796

NCI Thesaurus

C34807

OMIM

154700

GARD

6975

MGI genotype (from TogoID)

Related Genes

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Gene ID	Gene Symbol	Description	Source
135228	CD109	CD109 molecule	DisGeNET
139189	DGKK	diacylglycerol kinase kappa	DisGeNET
151056	PLB1	phospholipase B1	DisGeNET
284004	HEXD	hexosaminidase D	DisGeNET
347527	ARSH	arylsulfatase family member H	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of **109** in total

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UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET DisGeNET
O00400	Acetyl-coenzyme A transporter 1	DisGeNET DisGeNET
O00767	Stearoyl-CoA desaturase	DisGeNET
O14561	Acyl carrier protein, mitochondrial	DisGeNET
O15305	Phosphomannomutase 2	DisGeNET
O60502	Protein O-GlcNAcase	DisGeNET
O75015	Low affinity immunoglobulin gamma Fc region receptor III-B	DisGeNET
O75874	Isocitrate dehydrogenase [NADP] cytoplasmic	DisGeNET
O94766	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	DisGeNET
O95340	Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	DisGeNET