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| Term | Bothnian type palmoplantar keratoderma | ID (Ontology) | DOID:0111707 (Human Disease) |
| Definition | A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. | ||
| Also Known As | "diffuse palmoplantar keratoderma, Bothnian type" ; "PPKB" | ||
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| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
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_________________ palmoplantar keratosis | |__nonepidermolytic palmoplantar keratoderma__| Bothnian type palmoplantar keratoderma 6 rec. |
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Relationships
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| Is a |
nonepidermolytic palmoplantar keratoderma autosomal dominant disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:1862 MESH:C536173 MIM:600231 ORDO:2337 UMLS_CUI:C1838359 |
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