FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Proteus syndrome ID (Ontology) DOID:13482 (Human Disease)
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.
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 Genes
 Proteus syndrome       1
 for disease ribbon | Proteus syndrome       1
 model of | Proteus syndrome       1
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       |__Proteus syndrome  1 rec.
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Synonyms
  • "Wiedemann's syndrome" RELATED
Secondary IDs
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GARD:7475
MESH:D016715
MIM:176920
NCI:C85032
ORDO:744
SNOMEDCT_US_2025_05_01:23150001
UMLS_CUI:C0085261