autosomal deafness

autosomal deafness
常染色体性聋

Medical Chinese dictionary (湘雅医学词典). 2013.

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  • 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

  • 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

  • Keratitis-Ichthyosis-Deafness — Klassifikation nach ICD 10 H90.5 Hörverlust durch Schallempfindungsstörung, nicht näher bezeichnet Angeborene Schwerhörigkeit oder Taubheit o. n. A. Q80.8 Sonstige Ichthyosis congenita …   Deutsch Wikipedia

  • Keratitis-ichthyosis-deafness syndrome — An inherited disorder in which affected persons have: {{}}Keratitis gradual destruction of the cornea of the eye, sometimes leading to blindness Ichthyosis localized areas of disfiguring reddish thickened skin ( fish skin ) Deafness at birth… …   Medical dictionary

  • Congenital deafness and retinitis pigmentosa — (Also called Usher syndrome.) A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems. It is the most… …   Medical dictionary

  • Retinitis pigmentosa and congenital deafness — (Also called Usher syndrome.) A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems. It is the most… …   Medical dictionary

  • DFNB31 — Deafness, autosomal recessive 31 PDB rendering based on 1uez …   Wikipedia

  • DFNA5 — Deafness, autosomal dominant 5 Identifiers Symbols DFNA5; ICERE 1 External IDs OMIM …   Wikipedia

  • Waardenburg's syndrome — Autosomal dominant disorder with deafness and pigmentary disturbances probably as a result of defects in function of neural crest. Various forms of the syndrome are recognized. Waardenburg Syndrome 1 (WS1) and WS3 (also known as Klein Waardenburg …   Dictionary of molecular biology

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