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Disease association ontology term - MONDO:0011169 - keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Term summary

ID
MONDO:0011169
Name
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Ontology or CV name
Disease association
Definition
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.

Parents

Annotation

Disease association

MONDO:0011169 - keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

References:

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