Term Name: | Schopf-Schulz-Passarge syndrome |
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Synonyms: | 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, SSPS |
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. |
Ontology: | Human Disease [DOID:0111647] ( DOID:0111647 ) |