Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
palmoplantar keratoderma and congenital alopecia 1
Summary
- Synonym
-
- PPK-CA, Stevanovic type
- PPKCA Stevanovic type
- PPKCA1
- autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
- autosomal dominant palmoplantar keratoderma and congenital alopecia
- keratoderma-hypotrichosis-leukonychia totalis syndrome
- palmoplantar keratoderma and congenital alopecia, Stevanovic type
- Definition
- An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
- Super Class
- ectodermal dysplasia physical disorder
External Links
- Disease Ontology
- DOID:0111244
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
