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| Term | palmoplantar keratoderma and congenital alopecia 1 | ID (Ontology) | DOID:0111244 (Human Disease) |
| 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. | ||
| Also Known As | "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" ; "autosomal dominant palmoplantar keratoderma and congenital alopecia" ; "keratoderma-hypotrichosis-leukonychia totalis syndrome" (for all, see Synonyms field below) | ||
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syndrome |__ectodermal dysplasia__ disease | |__physical disorder_____| palmoplantar keratoderma and congenital alopecia 1 |
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| Is a |
physical disorder ectodermal dysplasia |
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GARD:604 MESH:C537050 MIM:104100 ORDO:1010 UMLS_CUI:C1863093 |
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