- autosomal disease
- 常染色体病
Medical Chinese dictionary (湘雅医学词典). 2013.
autosomal disease
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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)[1] … Wikipedia
Autosomal dominant hypophosphatemic rickets — (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects… … Wikipedia
Autosomal-dominante polyzystische Nierenerkrankung — Klassifikation nach ICD 10 Q61.1 Polyzystische Niere, autosomal rezessiv infantiler Typ Q61.2 Polyzystische Niere, autosomal dominant Erwachsenentyp … Deutsch Wikipedia
Autosomal-rezessive polyzystische Nierenerkrankung — Klassifikation nach ICD 10 Q61.1 Polyzystische Niere, autosomal rezessiv infantiler Typ Q61.2 Polyzystische Niere, autosomal dominant Erwachsenentyp … Deutsch Wikipedia
Autosomal dominante polyzystische Nierenerkrankung — Klassifikation nach ICD 10 Q61.1 Polyzystische Niere, autosomal rezessiv infantiler Typ Q61.2 Polyzystische Niere, autosomal dominant Erwachsenentyp … Deutsch Wikipedia
Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical 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
Disease, Tay-Sachs (TSD) — Deficiency of hexosaminidase A causes a disorder known as Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic… … Medical dictionary
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 dominant disease — noun a disease caused by a dominant mutant gene on an autosome • Syn: ↑autosomal dominant disorder • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ … Useful english dictionary
