Dyshormonogenesis — is a rare condition due to genetic defects in the synthesis of thyroid hormones; patients develop hypothyroidism with a goitre. One particular familial form is associated with sensorineural deafness (Pendred s syndrome) … Wikipedia
dyshormonogenesis — n. a collection of inherited disorders of thyroid hormone synthesis resulting in low levels of thyroxine and triiodothyronine and high levels of thyroid stimulating hormone, with consequent goitre formation. The result may be cretinism with a… … The new mediacal dictionary
Pendred syndrome — Classification and external resources OMIM 274600 DiseasesDB 9771 GeneReviews … Wikipedia
Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or … Wikipedia
Congenital disorder of glycosylation — Congenital disorders of glycosylation Classification and external resources ICD 10 E77.8 ICD 9 271.8 … Wikipedia
Congenital hypothyroidism — Classification and external resources ICD 10 E00, E03.0, E03.1 … Wikipedia
Fructose malabsorption — Classification and external resources Fructose ICD 10 E … Wikipedia
Cystinuria — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E … Wikipedia
Diastrophic dysplasia — Classification and external resources OMIM 222600 DiseasesDB 30759 eMedicine … Wikipedia
Fuchs' dystrophy — Classification and external resources Fuchs corneal dystrophy. Light microscopic appearance of the cornea showing numerous excrescences (guttae) on the posterior surface of Descemet s membrane and the presence of cysts in the corneal epithelium… … Wikipedia
