| D008297 |
Male |
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Males |
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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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| D005799 |
Genes, Dominant |
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. |
Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant |
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| D005820 |
Genetic Testing |
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. |
Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic |
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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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| D000091344 |
Filaggrin Proteins |
S100 proteins that aggregate KERATINS. Filaggrin precursor proteins are localized in keratohyalin granules and processed into individual functional filaggrin molecules during terminal epidermis differentiation. Mutations in fillagrins are associated with ICHTHYOSIS VULGARIS. |
Filaggrin,Filaggrin Protein,Profilaggrin,Stratum Corneum Basic Protein,Stratum Corneum Basic Protein Precursor,Protein, Filaggrin,Proteins, Filaggrin |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D016112 |
Ichthyosis Vulgaris |
Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait. |
Ichthyosis Simplex,Ichthyosis Vulgaris, Dominant,Dominant Ichthyosis Vulgaris,Ichthyosis Simplices |
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| D040181 |
Genetic Diseases, X-Linked |
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. |
X-Linked Genetic Diseases,Genetic Diseases, X-Chromosome Linked,Disease, X-Linked Genetic,Diseases, X-Linked Genetic,Genetic Disease, X-Linked,Genetic Diseases, X Chromosome Linked,Genetic Diseases, X Linked,X Linked Genetic Diseases,X-Linked Genetic Disease |
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| D041321 |
Chromosomes, Human, X |
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans. |
X Chromosome, Human,Chromosome, Human X,Chromosomes, Human X,Human X Chromosome,Human X Chromosomes,X Chromosomes, Human |
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