Search Ontology:
Human Disease
Schopf-Schulz-Passarge syndrome
- Term ID
- DOID:0111647
- Synonyms
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- 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
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- MESH:C565607
- MIM:224750
- ORDO:50944
- SNOMEDCT_US_2023_03_01:700062000
- UMLS_CUI:C1857069
- Ontology
- Human Disease ( DOID:0111647 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models