- autosomal recessive hereditary deafness
- 常染色体隐性遗传性聋
Medical Chinese dictionary (湘雅医学词典). 2013.
Medical Chinese dictionary (湘雅医学词典). 2013.
Deafness with goiter — Deafness with goiter, which is Pendred syndrome, is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of thyroid… … Medical dictionary
Hereditary spastic paraplegia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|G|11|4|g|10 ICD9 = ICD9|334.1 ICDO = OMIM = MedlinePlus = eMedicineSubj = pmr eMedicineTopic = 45 MeshID = D015419 Hereditary Spastic Paraplegia (HSP), also called Familial… … Wikipedia
Hereditary sensory and autonomic neuropathy — For the gene HSN2, see HSN2. Not to be confused with Hereditary motor and sensory neuropathy. Hereditary sensory and autonomic neuropathy Classification and external resources ICD 9 356.2 OMIM … Wikipedia
Nonsyndromic deafness — is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of… … Wikipedia
Goiter-deafness syndrome — The goiter deafness syndrome, commonly called Pendred syndrome, is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the… … Medical dictionary
Syndrome, goiter-deafness — The goiter deafness syndrome, commonly called Pendred syndrome, is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the… … Medical dictionary
Chromosome 3 (human) — Short and long arms Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent … Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Medical genetics of Jewish people — The medical genetics of Jewish people is the study, screening and treatment of genetic disorders that are more common in particular Jewish populations than in the population as a whole.[1] The genetics of Ashkenazi Jews have been particularly… … Wikipedia
Usher syndrome — Classification and external resources OMIM 276900 276901 DiseasesDB 13611 … 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