| Metadata | |
|---|---|
| ID | DOID:0111647 |
| Name | Schopf-Schulz-Passarge 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. https://www.ncbi.nlm.nih.gov/pubmed/2947556, https://www.ncbi.nlm.nih.gov/pubmed/19559398 |
| Xrefs |
SNOMEDCT_US_2023_03_01:700062000 |
| Subsets |
DO_rare_slim |
| Synonyms |
eccrine tumors-ectodermal dysplasia [EXACT] keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome [EXACT] palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome [EXACT] palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome [EXACT] SSPS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |