Genetic Disease
Of disease. May also be referred to as congenital disease, genetic abnormality, genetic defect, genetic disorder, hereditary condition, hereditary disease, inherited disease and inherited disorder.
A disease or disorder that is inherited genetically.
This concept's ID is @1~71270
Contains
- monogenic disorder
An inherited disease controlled by a single pair of genes.
- dystrophy
Any of several hereditary diseases of the muscular system characterized by weakness and...
- autosomal recessive disease
A disease caused by the presence of two recessive mutant genes on an...
- autosomal dominant disease
A disease caused by a dominant mutant gene on an autosome.
- inborn error of metabolism
Any of a number of diseases in which an inherited defect (usually a missing...
- mucopolysaccharidosis
Any of a group of genetic disorders involving a defect in the metabolism of...
- ichthyosis
Any of several congenital diseases in which the skin is dry and scaly like a fish.
- dwarfism
A genetic abnormality resulting in short stature.
- polygenic disorder
An inherited disease controlled by several genes at once.
- abetalipoproteinemia
A rare inherited disorder of fat metabolism; characterized by severe deficiency...
- hyperbetalipoproteinemia
A genetic disorder characterized by high levels of beta-lipoproteins and...
- osteopetrosis
An inherited disorder characterized by an increase in bone density; in severe forms...
- lactose intolerance
Congenital disorder consisting of an inability to digest milk and milk products;...
- maple syrup urine disease
An inherited disorder of metabolism in which the urine has a odor characteristic...
- porphyria
A genetic abnormality of metabolism causing abdominal pains and mental confusion.
- McArdle's disease
An inherited disease in which abnormal amounts of glycogen accumulate in skeletal...
- oligodontia
Congenital condition in which some of the teeth are missing.
- oligodactyly
Congenital condition in which some fingers or toes are missing.
- otosclerosis
Hereditary disorder in which ossification of the labyrinth of the inner ear causes...
- achondroplasia
An inherited skeletal disorder beginning before birth; cartilage is converted to...
- hepatolenticular degeneration
A rare inherited disorder of copper metabolism; copper accumulates...
- Fanconi's anemia
A rare congenital anemia characterized by pancytopenia and hypoplasia of the bone...
- nevoid elephantiasis
Thickening of the skin (usually unilateral on an extremity) caused by congenital...
- Spielmeyer-Vogt disease
A congenital progressive disorder of lipid metabolism having an onset at...
- congenital afibrinogenemia
A rare congenital disorder of blood coagulation in which no fibrinogen...
- Hirschsprung's disease
Congenital condition in which the colon does not have the normal network...