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Metadata
ID DOID:0060362
Name punctate palmoplantar keratoderma type III
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
Xrefs

MESH:C535653

MIM:101850

ORDO:38

SNOMEDCT_US_2023_03_01:111029001

UMLS_CUI:C0545044

Subsets

DO_rare_slim

Synonyms

acrokeratoelastoidosis of Costa [EXACT]

punctate palmoplantar hyperkeratosis type 3 [EXACT]

punctate palmoplantar keratoderma type 3 [EXACT]

Parent Relationships

is_a punctate palmoplantar keratoderma

is_a autosomal dominant disease

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