Schopf-Schulz-Passarge syndrome

Summary

DOID:0111647 - Schopf-Schulz-Passarge syndrome

Disease Ontology 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.

Synonyms: 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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: wnt10a

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), ectodermal dysplasia (is_a)