Medical genetics

(genetics) either of a pair (or series) of alternative forms of a gene that can occupy the same locus on a particular chromosome and that contro…

(genetics) either of a pair (or series) of alternative forms of a gene that can occupy the same locus on a particular chromosome and that contro…

(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as…

a disease or disorder that is inherited genetically

(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as…

part of a patient's medical history in which questions are asked in an attempt to find out whether the patient has hereditary tendencies toward…

(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as…

a disease or disorder that is inherited genetically

guidance for prospective parents on the likelihood of genetic disorders in their future children

a disease or disorder that is inherited genetically

a disease or disorder that is inherited genetically

a disease or disorder that is inherited genetically

a disease or disorder that is inherited genetically

a disease or disorder that is inherited genetically

a disease or disorder that is inherited genetically

a disease or disorder that is inherited genetically

what an organism looks like as a consequence of the interaction of its genotype and the environment

any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality

(genetics) an organism that possesses a recessive gene whose effect is masked by a dominant allele; the associated trait is not apparent but can…

a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes)…

an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated

(pregnancy) extraction by centesis of amniotic fluid from a pregnant woman (after the 15th week of pregnancy) to aid in the diagnosis of fetal a…

(pregnancy) extraction by centesis of amniotic fluid from a pregnant woman (after the 15th week of pregnancy) to aid in the diagnosis of fetal a…

a disease caused by a dominant mutant gene on an autosome

a disease caused by a dominant mutant gene on an autosome

a disease caused by the presence of two recessive mutant genes on an autosome

a disease caused by the presence of two recessive mutant genes on an autosome

an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation…

an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma

congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and…

a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow

an allele that produces the same phenotype whether its paired allele is identical or different

an allele that produces the same phenotype whether its paired allele is identical or different

gene that produces the same phenotype in the organism whether or not its allele identical; "the dominant gene for brown eyes"

a genetic abnormality resulting in short stature

any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles

using the reflections of high-frequency sound waves to construct an image of a body organ (a sonogram); commonly used to observe fetal growth or…

An epistatic gene is a gene that determines whether or not a given trait will be expressed.; "The gene responsible for albinism is an epistatic…

a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow

a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow

prenatal diagnosis that allows direct observation of a fetus in the uterus and the withdrawal of fetal blood

prenatal diagnosis that allows direct observation of a fetus in the uterus and the withdrawal of fetal blood

a specific gene that produces a recognizable trait and can be used in family or population studies

a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain

congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and…

a gene located on a Y chromosome

one the genes that are involved in embryologic development

a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age

any of several congenital diseases in which the skin is dry and scaly like a fish

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death

congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hyd…

congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hyd…

any gene that has an effect that causes the death of the organism at any stage of life

any pair of genes that tend to be transmitted together; "the genes of Drosophila fall into four linkage groups"

any pair of genes that tend to be transmitted together; "the genes of Drosophila fall into four linkage groups"

an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation…

an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated

an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping

congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hyd…

a gene that modifies the effect produced by another gene

a gene that modifies the effect produced by another gene

an inherited disease controlled by a single pair of genes

an inherited disease controlled by a single pair of genes

any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucop…

any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles

a gene that has changed so that the normal transmission and expression of a trait is affected

a genetic abnormality resulting in short stature

thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction

genes that are not competitors at the same locus

congenital condition in which some fingers or toes are missing

congenital condition in which some of the teeth are missing

a gene that disposes normal cells to change into cancerous tumor cells

a gene that activates the production of messenger RNA by adjacent structural genes

an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated

an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness

thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction

a gene that by itself has little effect on the phenotype but which can act together with others to produce observable variations

an inherited disease controlled by several genes at once

an inherited disease controlled by several genes at once

a genetic abnormality of metabolism causing abdominal pains and mental confusion

a normal gene that has the potential to become an oncogene

an allele that produces its characteristic phenotype only when its paired allele is identical

an allele that produces its characteristic phenotype only when its paired allele is identical

gene that produces its characteristic phenotype only when its allele is identical; "the recessive gene for blue eyes"

a gene that produces a repressor substance that inhibits an operator gene

a gene that produces a repressor substance that inhibits an operator gene

gene that prevents a nonallele from being transcribed

using the reflections of high-frequency sound waves to construct an image of a body organ (a sonogram); commonly used to observe fetal growth or…

a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death

a gene that controls the production of a specific protein or peptide

a gene that suppresses the phenotypic expression of another gene (especially of a mutant gene)

a gene that suppresses the phenotypic expression of another gene (especially of a mutant gene)

a gene that suppresses the phenotypic expression of another gene (especially of a mutant gene)

a gene that suppresses the phenotypic expression of another gene (especially of a mutant gene)

a gene that disposes normal cells to change into cancerous tumor cells

an exogenous gene introduced into the genome of another organism

using the reflections of high-frequency sound waves to construct an image of a body organ (a sonogram); commonly used to observe fetal growth or…

using the reflections of high-frequency sound waves to construct an image of a body organ (a sonogram); commonly used to observe fetal growth or…

a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain

a gene located on an X chromosome

a gene located on a Y chromosome

(genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism

(genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism

(genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism

the use of ultrasonography to measure the length of the eyeball

the use of ultrasonography to view structure in the back of the eye

the most common hereditary disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single…

the most common hereditary disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single…

a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urinati…

the most common hereditary disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single…

hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity

the most common hereditary disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single…

the most common hereditary disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single…

a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible t…

a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible t…