OBO ID: DOID:0111647
Term Name: Schopf-Schulz-Passarge syndrome Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0111647 )
OTHER Schopf-Schulz-Passarge syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WNT10A Schopf-Schulz-Passarge syndrome 224750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None