OBO ID: DOID:0111244 |
Term Name: | palmoplantar keratoderma and congenital alopecia 1 | Search Ontology: | |
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Definition: | An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (2) | ||
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Ontology: | Human Disease ( DOID:0111244 ) |
OTHER palmoplantar keratoderma and congenital alopecia 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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