punctate palmoplantar keratoderma type III

Term ID

DOID:0060362

Synonyms

• acrokeratoelastoidosis of Costa
• punctate palmoplantar hyperkeratosis type 3
• punctate palmoplantar keratoderma type 3

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. https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i

References

• MESH:C535653
• MIM:101850
• ORDO:38
• SNOMEDCT_US_2023_03_01:111029001
• UMLS_CUI:C0545044

Ontology

Human Disease   ( DOID:0060362 )