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bn:00592684n
Noun Concept
Categories: Membrane transport protein disorders, Deafness, Syndromes, Diseases named for discoverer, Congenital disorders of endocrine system
EN
Pendred syndrome  Autosomal Recessive Sensorineural Hearing Impairment and Goiter  congenital hypothyroidism due to dyshormonogenesis 2B  deafness with goiter  genetic defect in thyroid hormonogenesis 2B
EN
Pendred syndrome is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism. Wikipedia
Definitions
Relations
Sources
EN
Pendred syndrome is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism. Wikipedia
A genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism. Wiktionary
IS A
rare disease
syndrome
congenital hypothyroidism
thyroid dyshormonogenesis
autosomal recessive disease
GENETIC ASSOCIATION
pendrin
HEALTH SPECIALTY
endocrinology
Wikipedia
EN
Pendred syndrome
Wikidata
EN
Pendred syndrome
Wiktionary
EN
Pendred syndrome
Wikipedia Redirections
EN
Autosomal Recessive Sensorineural Hearing Impairment and Goiter, Deafness with goiter, Penderd's syndrome, Pendred's syndrome
Wikidata Alias
EN
congenital hypothyroidism due to dyshormonogenesis 2B, deafness with goiter, genetic defect in thyroid hormonogenesis 2B, goiter-deafness syndrome, Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2B, PDS, Pendred Syndrome, PENDRED SYNDROME; PDS, TDH2B, thyroid dyshormonogenesis 2B, Thyroid Hormonogenesis, Genetic Defect In, 2B

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