- autosome recessive disease
- 常染色体隐性遗传病
Medical Chinese dictionary (湘雅医学词典). 2013.
Medical Chinese dictionary (湘雅医学词典). 2013.
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
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
Disease, Wilson — An inherited disorder in which too much copper accumulates in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40. A diagnostic feature of Wilson disease is… … 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
Wilson disease — An inherited disorder in which too much copper accumulates in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40. A diagnostic feature of Wilson disease is… … Medical dictionary
Maple syrup urine disease — Classification and external resources Isoleucine (pictured above), leucine, and valine are the branched chain amino acids that build up in MSUD. ICD … Wikipedia
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
Gunther disease — Classification and external resources Hydroxymethylbilane, precursor to uroporphyrinogen III. ICD 10 E … Wikipedia
Glycogen storage disease type II — Infobox Disease Name = Glycogen storage disease type II Caption = DiseasesDB = 5296 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232300 MedlinePlus = eMedicineSubj = med eMedicineTopic = 908 eMedicine mult = eMedicine2|ped|1866 |… … Wikipedia
Werdnig-Hoffman disease — DiseaseDisorder infobox Name = Werdnig Hoffman disease ICD10 = ICD10|G|12|0|g|10 ICD9 = ICD9|335.0 ICDO = Caption = OMIM = 253300 MedlinePlus = 000996 | eMedicineSubj = orthoped eMedicineTopic = 304 DiseasesDB = MeshID = D014897 Werdnig Hoffman… … Wikipedia
Human genetics — describes the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics,… … Wikipedia