- autosomal recessive
Mutation carried on an autosome that is deleterious only in homozygotes.
Dictionary of molecular biology. 2004.
Look at other dictionaries:
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
autosomal recessive — see recessive … The new mediacal dictionary
Autosomal recessive distal spinal muscular atrophy 1 — Classification and external resources OMIM 604320 Autosomal recessive distal spinal muscular atrophy 1 (or spinal muscular atrophy with respiratory distress type 1, or distal spinal muscular atrophy 1) … Wikipedia
autosomal recessive defect — noun a disease caused by the presence of two recessive mutant genes on an autosome • Syn: ↑autosomal recessive disease • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital … Useful english dictionary
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 ocular albinism — a type of albinism formerly believed to be an autosomal recessive form of ocular albinism but now considered to belong within the phenotypes of oculocutaneous albinism types 1 and 2 … Medical dictionary
autosomal recessive polycystic kidney disease — (ARPKD) see polycystic kidney d … Medical dictionary
autosomal recessive colorectal adenomatous polyposis — MUTYH associated p … Medical dictionary
Medullary cystic kidney disease, autosomal recessive type — A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria (decreased ability to… … Medical dictionary
Recessive multiple epiphyseal dysplasia — is a disorder of cartilage and bone development. This condition has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees. Some affected individuals are born with an inward and… … Wikipedia