FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term punctate palmoplantar keratoderma type III ID (Ontology) DOID:0060362 (Human Disease)
Definition A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
Also Known As "acrokeratoelastoidosis of Costa" ; "punctate palmoplantar hyperkeratosis type 3" ; "punctate palmoplantar keratoderma type 3"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_________
palmoplantar keratosis                 |
 |__punctate palmoplantar keratoderma__|
                                       punctate palmoplantar keratoderma type III
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Is a autosomal dominant disease
punctate palmoplantar keratoderma
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Synonyms
  • "acrokeratoelastoidosis of Costa" EXACT
    "punctate palmoplantar hyperkeratosis type 3" EXACT
    "punctate palmoplantar keratoderma type 3" EXACT
Secondary IDs
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MESH:C535653
MIM:101850
ORDO:38
SNOMEDCT_US_2023_03_01:111029001
UMLS_CUI:C0545044