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| Term | palmoplantar keratoderma and congenital alopecia 2 | ID (Ontology) | DOID:0111245 (Human Disease) |
| Definition | An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. | ||
| Also Known As | "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" ; "autosomal recessive palmoplantar keratoderma and congenital alopecia" ; "CASS" (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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syndrome |__ectodermal dysplasia__ disease | |__physical disorder_____| palmoplantar keratoderma and congenital alopecia 2 |
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| Is a |
physical disorder ectodermal dysplasia |
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External Crossreferences & Linkouts
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MESH:C535336 MIM:212360 ORDO:1366 UMLS_CUI:C1859316 |
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