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DO Term : Schopf-Schulz-Passarge syndrome [DOID:0111647] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • SNOMEDCT_US_2023_03_01:700062000,
  • OMIM:224750,
  • palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome,
  • palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome,
  • SSPS,
  • 224750,
  • eccrine tumors-ectodermal dysplasia,
  • UMLS_CUI:C1857069,
  • keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome,
  • ORDO:50944,
  • MESH:C565607
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents