OBO ID: DOID:0111707 |
Term Name: | Bothnian type palmoplantar keratoderma | Search Ontology: | |
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Synonyms: |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111707 ) |
OTHER Bothnian type palmoplantar keratoderma PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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AQP5 | Palmoplantar keratoderma, Bothnian type |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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