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| Term | palmoplantar keratoderma-esophageal carcinoma syndrome | ID (Ontology) | DOID:0111506 (Human Disease) |
| Definition | A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. | ||
| Also Known As | "Bennion-Patterson syndrome" ; "Howell-Evans syndrome" ; "keratosis palmaris et plantaris with esophageal cancer" (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__ disease | |__syndrome____________________| palmoplantar keratoderma-esophageal carcinoma syndrome 1 rec. |
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autosomal dominant disease syndrome |
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GARD:3102 MESH:C536164 MIM:148500 ORDO:2198 UMLS_CUI:C1835664 |
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