| D007645 |
Keratoderma, Palmoplantar |
Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis). |
Hyperkeratosis Palmaris et Plantaris,Keratosis Palmaris et Plantaris,Keratosis, Palmoplantar,Meleda Disease,Palmoplantar Keratoderma,Keratosis Palmoplantaris Transgradiens of Siemens,Mal de Meleda,Disease, Meleda,Keratodermas, Palmoplantar,Keratoses, Palmoplantar,Meleda, Mal de,Palmoplantar Keratodermas,Palmoplantar Keratoses,Palmoplantar Keratosis,de Meleda, Mal |
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| D008875 |
Middle Aged |
An adult aged 45 - 64 years. |
Middle Age |
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| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
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| D005260 |
Female |
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Females |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D001706 |
Biopsy |
Removal and pathologic examination of specimens from the living body. |
Biopsies |
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| D053556 |
Keratin-1 |
A type II keratin that is found associated with the KERATIN-10 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-1 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC. |
Keratin 1 |
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| D020022 |
Genetic Predisposition to Disease |
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. |
Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic |
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