Search Ontology:
Human Disease

Proteus syndrome

Term ID
DOID:13482
Synonyms
  • Wiedemann's syndrome
Definition
A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis. (3)
References
Ontology
Human Disease   ( DOID:13482 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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