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CLOVES syndrome

Summary

Synonym

congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

Definition

A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26.

Super Class

syndrome

External Links

Disease Ontology

DOID:0080351

Mondo Disease Ontology

ORDO

140944

OMIM

612918

GARD

10939

MGI genotype (from TogoID)

6197269

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
5290	PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
18706	Pik3ca	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
170911	Pik3ca	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 20 in total

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HPO ID	HPO Term
HP:0001852	Sandal gap
HP:0010301	Spinal dysraphism
HP:0001442	Typified by somatic mosaicism
HP:0100559	Lower limb asymmetry
HP:0003577	Congenital onset
HP:0000324	Facial asymmetry
HP:0004099	Macrodactyly
HP:0001548	Overgrowth
HP:0012721	Venous malformation
HP:0002650	Scoliosis