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GENETIC ABNORMALITY
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I. (noun)
Sense 1
Meaning:
A disease or disorder that is inherited genetically
Synonyms:
congenital disease; genetic abnormality; genetic defect; genetic disease; genetic disorder; hereditary condition; hereditary disease; inherited disease; inherited disorder
Classified under:
Nouns denoting stable states of affairs
Hypernyms ("genetic abnormality" is a kind of...):
disease (an impairment of health or a condition of abnormal functioning)
Hyponyms (each of the following is a kind of "genetic abnormality"):
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)
porphyria (a genetic abnormality of metabolism causing abdominal pains and mental confusion)
lactase deficiency; lactose intolerance; 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)
dwarfism; nanism (a genetic abnormality resulting in short stature)
nevoid elephantiasis; pachyderma (thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction)
Albers-Schonberg disease; marble bones disease; osteopetrosis (an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated)
congenital afibrinogenemia (a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma)
juvenile amaurotic idiocy; Spielmeyer-Vogt disease (a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death)
congenital pancytopenia; Fanconi's anaemia; Fanconi's anemia (a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow)
autosomal recessive defect; autosomal recessive disease (a disease caused by the presence of two recessive mutant genes on an autosome)
autosomal dominant disease; autosomal dominant disorder (a disease caused by a dominant mutant gene on an autosome)
otosclerosis (hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness)
oligodontia (congenital condition in which some of the teeth are missing)
oligodactyly (congenital condition in which some fingers or toes are missing)
dystrophy; muscular dystrophy (any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles)
McArdle's disease (an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping)
branched chain ketoaciduria; maple syrup urine disease (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)
ichthyosis (any of several congenital diseases in which the skin is dry and scaly like a fish)
hyperbetalipoproteinemia (a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age)
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)
congenital megacolon; Hirschsprung's disease (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)
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)
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)
achondroplasia; achondroplasty; chondrodystrophy; osteosclerosis congenita (an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism)
polygenic disease; polygenic disorder (an inherited disease controlled by several genes at once)
monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)
Context examples:
Because her physicians suspected she might have a primary immune deficiency — a genetic abnormality affecting her immune system — they performed a genetic analysis.
(Scientists discover rare genetic susceptibility to common cold, National Institutes of Health)
A molecular genetic abnormality that refers to the presence of a mutation in the histone methyltransferase gene EZH2.
(EZH2 Gene Mutation, NCI Thesaurus)
A molecular genetic abnormality that refers to the mutation of the BMPR1A (bone morphogenetic protein receptor, type 1A) gene on chromosome 10q22.3.
(BMPR1A Gene Mutation, NCI Thesaurus)
A molecular genetic abnormality in the kinase domain of the BCR-ABL fusion gene that results in resistance to tyrosine kinase inhibitors.
(BCR-ABL TKI-Resistant Mutation, NCI Thesaurus)
A molecular genetic abnormality that refers to the presence of a mutation in the ASXL1 gene.
(ASXL1 Gene Mutation, NCI Thesaurus)
A molecular genetic abnormality indicating the presence of mutations in the AKT family of genes.
(AKT Family Gene Mutation, NCI Thesaurus)
A molecular genetic abnormality indicating the presence of multiple copies of the PIK3CA (phosphatidyl inositol 3-kinase) gene.
(PIK3CA Gene Amplification, NCI Thesaurus)
A molecular genetic abnormality indicating the presence of resistance in the epidermal growth factor receptor-tyrosine kinase inhibitor domain, due to secondary mutations of the EGFR gene.
(EGFR-TKI Resistant Mutation, NCI Thesaurus)
A molecular genetic abnormality that refers to the presence of a mutation in the ETV6 gene (ETS variant gene 6).
(ETV6 Gene Mutation, NCI Thesaurus)
A molecular genetic abnormality indicating the presence of a mutation in the ERBB2 gene on chromosome 17q12.
(ERBB2 Gene Mutation, NCI Thesaurus)
