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General Information
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| Term |
palmoplantar keratoderma and woolly hair |
ID (Ontology) |
DOID:0070554 (Human Disease) |
| Definition |
A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. |
| Also Known As |
"keratoderma with woolly hair type IV" ; "PPKWH" ; "woolly hair-palmoplantar keratoderma syndrome type 4" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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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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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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palmoplantar keratoderma and woolly hair | 1 | for disease ribbon | palmoplantar keratoderma and woolly hair | 1 | model of | palmoplantar keratoderma and woolly hair | 1 |
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Relationships