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Schopf-Schulz-Passarge syndrome
Summary
- Synonym
-
- SSPS
- eccrine tumors-ectodermal dysplasia
- keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
- palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
- palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
- Definition
- An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35.
- Super Class
- autosomal dominant disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0111647
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZT5 | Protein Wnt-10a |
