Disease

palmoplantar keratoderma and congenital alopecia 1

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.

Synonyms

autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
autosomal dominant palmoplantar keratoderma and congenital alopecia

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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