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punctate palmoplantar keratoderma type III
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease punctate palmoplantar keratoderma
External Links
- Disease Ontology
- DOID:0060362
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43451 | Maltase-glucoamylase | |
| P14410 | Sucrase-isomaltase, intestinal |
