genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, ...

a disease or disorder that is inherited genetically

• monogenic disorder, monogenic disease — an inherited disease controlled by a single pair of genes
• polygenic disorder, polygenic disease — an inherited disease controlled by several genes at once
• achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophy — an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
• abetalipoproteinemia — a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
• inborn error of metabolism — any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
• Hirschsprung's disease, congenital megacolon — 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 cause megacolon
• mucopolysaccharidosis — any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
• hyperbetalipoproteinemia — a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
• ichthyosis — any of several congenital diseases in which the skin is fishlike (dry and scaly)
• maple syrup urine disease, branched chain ketoaciduria — an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
• McArdle's disease — an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
• muscular dystrophy, dystrophy — any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
• oligodactyly — congenital condition in which some fingers or toes are missing
• oligodontia — congenital condition in which some of the teeth are missing
• otosclerosis — hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
• autosomal dominant disease, autosomal dominant disorder — a disease caused by a dominant mutant gene on an autosome
• autosomal recessive disease, autosomal recessive defect — a disease caused by the presence of two recessive mutant genes on an autosome
• Fanconi's anemia, Fanconi's anaemia, congenital pancytopenia — a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
• Spielmeyer-Vogt disease, juvenile amaurotic idiocy — a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
• congenital afibrinogenemia — a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
• osteopetrosis, Albers-Schonberg disease, marble bones disease — an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
• nevoid elephantiasis, pachyderma — thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
• dwarfism, nanism — a genetic abnormality resulting in short stature
• lactose intolerance, lactase deficiency, milk intolerance — congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
• porphyria — a genetic abnormality of metabolism causing abdominal pains and mental confusion
• hepatolenticular degeneration, Wilson's disease — a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain

• disease — an impairment of health or a condition of abnormal functioning