GlyCosmos Portal

Loeys-Dietz syndrome 4

Synonym

Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
LDS4

Definition

A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

Super Class

Loeys-Dietz syndrome

Disease Ontology

DOID:0070233

Mondo Disease Ontology

OMIM

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
7042	TGFB2	transforming growth factor beta 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
21808	Tgfb2	transforming growth factor, beta 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
81809	Tgfb2	transforming growth factor, beta 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
373801	tgfb2.L	transforming growth factor beta 2 L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Displaying entries **1 - 10** of 41 in total

1

2

3

4

5

Next ›

Last »
HPO ID	HPO Term
HP:0000023	Inguinal hernia
HP:0000098	Tall stature
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000525	Abnormality iris morphology
HP:0000766	Abnormal sternum morphology
HP:0000822	Hypertension
HP:0000965	Cutis marmorata
HP:0000978	Bruising susceptibility
HP:0001166	Arachnodactyly