GENETIC ABNORMALITY

Pronunciation (US):

(GB):

IPA (US):

 Dictionary entry overview: What does genetic abnormality mean? 

• GENETIC ABNORMALITY (noun)
  The noun GENETIC ABNORMALITY has 1 sense:

1. a disease or disorder that is inherited genetically

  Familiarity information: GENETIC ABNORMALITY used as a noun is very rare.

 Dictionary entry details 

• GENETIC ABNORMALITY (noun)

Sense 1

Meaning:

A disease or disorder that is inherited genetically

Classified under:

Nouns denoting stable states of affairs

Synonyms:

congenital disease; genetic abnormality; genetic defect; genetic disease; genetic disorder; hereditary condition; hereditary disease; inherited disease; inherited disorder

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"):

oligodontia (congenital condition in which some of the teeth are missing)

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)

monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)

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)

 Context examples 

A molecular genetic abnormality indicating the presence of a mutation in exon 13 of the KIT gene located within 4q11-q12.

(KIT Exon 13 Mutation, NCI Thesaurus)

A molecular genetic abnormality indicating the presence of a mutation in exon 11 of the KIT gene located within 4q11-q12.

(KIT Exon 11 Mutation, NCI Thesaurus)

A molecular genetic abnormality indicating the presence of inactivating mutation of the HNF1A (hepatocyte nuclear factor 1-alpha) gene.

(HNF1A Gene Mutation, NCI Thesaurus)

The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence.

(Hereditary Multiple Exostoses, NCI Thesaurus)

A molecular genetic abnormality indicating the presence of a mutation in exon 9 of the KIT gene located within 4q11-q12.

(KIT Exon 9 Mutation, NCI Thesaurus)

A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene.

(KIT Gene Mutation, NCI Thesaurus)

A molecular genetic abnormality indicating the presence of a mutation in the PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) gene on chromosome 4q12.

(PDGFRA Gene Mutation, NCI Thesaurus)

A molecular genetic abnormality indicating the presence of multiple copies of the PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) gene.

(PDGFRA Gene Amplification, NCI Thesaurus)

A molecular genetic abnormality that refers to a change in the nucleotide sequence of the PALB2 gene.

(PALB2 Gene Mutation, NCI Thesaurus)

A molecular genetic abnormality that refers to the mutation of the MUTYH gene on chromosome 1p34.1.

(MUTYH Gene Mutation, NCI Thesaurus)