| D008297 |
Male |
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Males |
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| D010375 |
Pedigree |
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. |
Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical |
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| D004303 |
Dosage Compensation, Genetic |
Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE DOSAGE. This term is usually used in discussing genes that lie on the SEX CHROMOSOMES. Because the sex chromosomes are only partially homologous, there is a different copy number, i.e., dosage, of these genes in males vs. females. In DROSOPHILA, dosage compensation is accomplished by hypertranscription of genes located on the X CHROMOSOME. In mammals, dosage compensation of X chromosome genes is accomplished by random X CHROMOSOME INACTIVATION of one of the two X chromosomes in the female. |
Dosage Compensation (Genetics),Gene Dosage Compensation,Hypertranscription, X-Chromosome,X-Chromosome Hypertranscription,Compensation, Dosage (Genetics),Compensation, Gene Dosage,Compensation, Genetic Dosage,Dosage Compensation, Gene,Gene Dosage Compensations,Genetic Dosage Compensation,Genetic Dosage Compensations,Hypertranscription, X Chromosome,X Chromosome Hypertranscription |
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| D005260 |
Female |
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Females |
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| D006579 |
Heterozygote |
An individual having different alleles at one or more loci regarding a specific character. |
Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes |
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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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| D000293 |
Adolescent |
A person 13 to 18 years of age. |
Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths |
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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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| D000519 |
alpha-Galactosidase |
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids. |
Beano,Melibiase,alpha-D-Galactopyranosidase,alpha-D-Galactosidase,alpha-Galactisidase,alpha-Galactosidase A,alpha-Galactosidases,alpha D Galactopyranosidase,alpha D Galactosidase,alpha Galactisidase,alpha Galactosidase,alpha Galactosidase A,alpha Galactosidases |
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| D000795 |
Fabry Disease |
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. |
Anderson-Fabry Disease,Angiokeratoma Corporis Diffusum,Angiokeratoma Diffuse,Angiokeratoma, Diffuse,Ceramide Trihexosidase Deficiency,Fabry's Disease,GLA Deficiency,Hereditary Dystopic Lipidosis,alpha-Galactosidase A Deficiency,alpha-Galactosidase A Deficiency Disease,Anderson Fabry Disease,Deficiency, Ceramide Trihexosidase,Deficiency, GLA,Deficiency, alpha-Galactosidase A,Diffuse Angiokeratoma,Lipidosis, Hereditary Dystopic,alpha Galactosidase A Deficiency,alpha Galactosidase A Deficiency Disease |
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