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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/19559398, https://www.ncbi.nlm.nih.gov/pubmed/2947556
Xrefs

MESH:C565607

OMIM:224750

ORDO:50944

SNOMEDCT_US_2023_03_01:700062000

UMLS_CUI:C1857069

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 ectodermal dysplasia

is_a autosomal dominant disease

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