| ARPD | autosomal recessive polycystic disease |
|---|---|
| ARPKD | autosomal recessive polycystic kidney disease |
| ARSACS | autosomal recessive spastic ataxia of Charlevoix-Saguenay |
| PHAVER | pterygia-heart defects-autosomal recessive inheritance-vertebral defects-ear anomalies-radial defect... |
| ACED | anhydrotic congenital ectodermal dysplasia |
| congenital ectodermal defect | Incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient. Synonym: congenital ectodermal dysplasia. (05 Mar 2000) |
|---|---|
| ectodermal | Relating to the ectoderm. Synonym: ectodermic. (05 Mar 2000) |
| ectodermal cloaca | The proctodeum of the embryo. (05 Mar 2000) |
| genes, recessive | Genes that are reflected in the phenotype only in the homozygous state. (12 Dec 1998) |
| recessive | <genetics> An allele or mutation that is only expressed phenotypically when it is present in the homozygous form. In the heterozygote it is obscured by dominant alleles. (18 Nov 1997) |
| recessive character | An inherited character determined by an allele in homozygous state only. See: dominance of traits. (05 Mar 2000) |
| recessive gene | A gene that is expressed onlywhen it is present in two copies or if theother copy is missing. (09 Oct 1997) |
| recessive inheritance | dominance of traits |
| recessive oncogene | <molecular biology> A single copy of this gene issufficient to suppress cell proliferation, the loss of both copies of the gene contributes to cancer formation. (09 Oct 1997) |
| recessive trait | See: dominance of traits. (05 Mar 2000) |
| recessive, x-linked | A gene on the X chromosome that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, duchenne muscular dystrophy (dmd) is an x-linked recessive disorder. A dmd boy has the dmd gene on his sole x chromosome (and so is said to be hemizgous for dmd). Although it is much rarer, a girl can have dmd (by several different means as, for example, if she has the dmd gene on both her x chromosomes and so is homozygous for dmd). (12 Dec 1998) |
| anterofacial dysplasia | Abnormal growth of the face or cranium in an anteroposterior direction as seen and measured with a cephalogram. (05 Mar 2000) |
| arrhythmogenic right ventricular dysplasia | A congenital cardiomyopathy in which transmural infiltration of adipose tissue results in weakness and aneurysmal bulging of the infundibulum, apex, and posterior basilar region of the right ventricle and leads to ventricular tachycardia arising in the right ventricle. (12 Dec 1998) |
| asphyxiating thoracic dysplasia | Hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. Synonym: asphyxiating thoracic chondrodystrophy, Jeune's syndrome, thoracic-pelvic-phalangeal dystrophy. (05 Mar 2000) |
| bronchopulmonary dysplasia | <embryology, paediatrics> A form of chronic lung disease of uncertain cause sometimes seen in children who have received mechanical respiratory support (with high oxygenation) in the neonatal period. Often associated with those infants who have been treated for hyaline membrane disease. Origin: Gr. Plassein = to form (27 Sep 1997) |