DO_rare_slim NCIthesaurus Proteus syndrome MIM:176920 GARD:7475 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. MESH:D016715 NCI:C85032 disease_ontology GARD:7475 MIM:176920 ORDO:744 DOID:13482 NCI:C85032 OMIM mapping confirmed by DO. [SN]. UMLS_CUI:C0085261 ORDO:744 UMLS_CUI:C0085261 SNOMEDCT_US_2025_09_01:394527003 MESH:D016715 Wiedemann's syndrome syndrome