Useful english dictionary. 2012.
autosomal recessive disease — noun a disease caused by the presence of two recessive mutant genes on an autosome • Syn: ↑autosomal recessive defect • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital di … Useful english dictionary
Autosomal recessive — A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do … Medical dictionary
Recessive, autosomal — A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do … Medical dictionary
defect — An imperfection, malformation, dysfunction, or absence; an attribute of quality, in contrast with deficiency, which is an attribute of quantity. [L. deficio, pp. fectus, to fail, to lack] aortic septal d., aorticopulmonary septal d. a small… … Medical dictionary
genetic defect — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑congenital disease, ↑inherited disease, ↑inherited disorder, ↑hereditary disease, ↑ … Useful english dictionary
Thyroid hormone organification defect IIb — This condition, clinically called Pendred syndrome, is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of… … Medical dictionary
abetalipoproteinaemia — Autosomal recessive defect in which there is total absence of apoprotein B (a component of LDL, VLDL and chylomicrons). Characteristic feature is presence of acanthocytes; later in life neurological disorders and retinitis pigmentosa develop and… … Dictionary of molecular biology
Ehlers–Danlos syndrome — Classification and external resources The collagen fibril and EDS. (a) Normal collagen fibrils are of uniform size and spacing. Fibrils from a patient with dermatosparaxis (b) show dramatic alterations in fibril morphology with severe effects on… … Wikipedia
Tay-Sachs disease — noun a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood • Syn: ↑Tay Sachs, ↑Sachs disease,… … Useful english dictionary
tyrosinemia — noun autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation • Hypernyms: ↑autosomal recessive disease, ↑autosomal recessive defect * * * /tuy roh si nee mee euh, tir oh /, n. Pathol. an … Useful english dictionary
