eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ichthyosis |
| Comorbidity | C0022593|keratosis |
| Sentences | 3 |
| PubMedID- 23352280 | Association between abnormal upr activation and hereditary keratoses, including darier's disease, keratosis linearis with ichthyosis congenita and keratoderma syndrome, erythrokeratoderma variabilis, and ichthyosis follicularis with atrichia and photophobia syndrome, have been elucidated recently. |
| PubMedID- 22235297 | keratosis linearis with ichthyosis congenita and keratoderma (klick) is an autosomal recessive skin disorder associated with a single-nucleotide deletion in the 5'untranslated region of the proteasome maturation protein (pomp) gene. |
| PubMedID- 21738991 | keratosis linearis with ichthyosis congenita and sclerosing keratoderma (klick) syndrome is a rare autosomal recessive skin disorder characterized by the association of diffuse, transgressive palmoplantar keratoderma with sclerodactyly, linear hyperkeratotic plaques generally located in flexures, and congenital ichthyosis. |
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