| PHAVER | pterygia-heart defects-autosomal recessive inheritance-vertebral defects-ear anomalies-radial defect... |
|---|---|
| OMIM | Online Mendelian Inheritance in Man [database] |
| XL | excess lactate; X-linked [inheritance]; xylose-lysine [agar base] |
| XR | xeroradiography; X-linked recessive [inheritance]; x-ray |
| ACD | 1) Absolute Cardiac Dullness; Àý´ë½ÉµÐŹÀ½ 2) Anemia of Chronic Disease &nbs... |
| OMIM | On-Line Mendelian Inheritance in Man |
|---|---|
| AD | Autosomal Dominant |
| ADCA | Autosomal Dominant Cerebellar Ataxia |
| ADPKD | Autosomal Dominant Polycystic Kidney Disease |
| AR | Autosomal Recessive |
| autosomal | Pertaining to an autosome. (05 Mar 2000) |
|---|---|
| autosomal dominant | <genetics> Requires only one affected parent have the trait to pass it to offspring. (02 Jan 1998) |
| autosomal gene | A gene located on any chromosome other than the sex chromosomes (X or Y). (05 Mar 2000) |
| autosomal recessive | <genetics> Mutation carried on an autosome that is deleterious only in homozygotes. (02 Jan 1998) |
| recessive, autosomal | A gene on a nonsex chromosome (an autosome) that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, cystic fibrosis (cf) is an autosomal recessive disorder. A cf child has the cf gene on both chromosome 7's (and so is said to be homozygous for cf). (12 Dec 1998) |
| kidney, polycystic, autosomal dominant | A genetic disorder with autosomal dominant inheritance characterised by multiple cysts in both kidneys and progressive deterioration of renal function. It is usually caused by a mutant gene at the pkd1 locus on the short arm of chromosome 16, though mutations elsewhere in the genome can also cause the disease. The age of onset of symptoms varies widely. (12 Dec 1998) |
| kidney, polycystic, autosomal recessive | Rare genetic disorder with autosomal recessive inheritance characterised by multiple cysts in both kidneys and associated hepatic lesions. Serious manifestations are usually present at birth and there is high perinatal mortality. (12 Dec 1998) |
| alternative inheritance | Galton's term for an assumed form in which all the characters are derived from one parent. (05 Mar 2000) |
| blending inheritance | Galton's term for inheritance in which no component is conspicuous or obtrusive. (05 Mar 2000) |
| galtonian inheritance | Inheritance in which a measurable phenotype is generated by many loci, the contributions of which are statistically independent, additive, and of about equal value. (The latter are in accordance with the classical central limit therein and justify the use of the multivariate normal distribution in galtonian genetics). Synonym: polygenic inheritance. (05 Mar 2000) |
| recessive inheritance | dominance of traits |
| maternal inheritance | Inheritance through the maternal cell line, for example through the oocyte and eggs. Mitochondrial genes are maternally inherited and various other nonMendelian forms of inheritance may also appear as maternal inheritance. (18 Nov 1997) |
| Mendelian inheritance | <genetics> Inheritance of characters according to the classical laws formulated by Gregor Mendel, which give the classic ratios of segregation in the F2 generation. In sexually reproducing organisms, any process of heredity explicable in terms of chromosomal segregation, independent assortment and homologous exchange. (18 Nov 1997) |
| Mendelian Inheritance in Man | A standard, comprehensive, perpetually updated reference source for traits in humans that have been shown to be mendelian or that are thought on reasonable grounds to be so. Each entry has a six-digit catalog number. Those securely established (by molecular biology or by extensive clinical studies) are marked with an asterisk. (05 Mar 2000) |
| mitochondrial inheritance | The inheritance of a trait encoded in the mitochondrial genome. Because of the oddities of mitochondria, mitochondrial inheritance does not obey the classic rules of genetics. Persons with a mitochondrial disease may be male or female but they are always related in the maternal line and no male with the disease can transmit it to his children. (12 Dec 1998) |
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