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| Term | Schopf-Schulz-Passarge syndrome | ID (Ontology) | DOID:0111647 (Human Disease) |
| 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. | ||
| Also Known As | "eccrine tumors-ectodermal dysplasia" ; "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" ; "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__ectodermal dysplasia________| Schopf-Schulz-Passarge syndrome 1 rec. |
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autosomal dominant disease ectodermal dysplasia |
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External Crossreferences & Linkouts
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MESH:C565607 MIM:224750 ORDO:50944 SNOMEDCT_US_2023_03_01:700062000 UMLS_CUI:C1857069 |
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