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bn:01149953n
Noun Concept
Categories: Rare syndromes, TCA and ETC metabolism disorders, Syndromes affecting hearing
EN
Bjornstad syndrome  Björnstad syndrome  BJORNSTAD SYNDROME; BJS  BJS  Deafness-pili torti-hypogonadism syndrome
EN
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. Wikipedia
Definitions
Relations
Sources
EN
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. Wikipedia
Human disease Wikidata
IS A
rare disease
syndrome
autosomal recessive disease
GENETIC ASSOCIATION
BCS1L
Wikipedia
EN
Björnstad syndrome
Wikidata
EN
Bjornstad syndrome
Wikipedia Redirections
EN
Bjornstad syndrome, Pili torti-deafness syndrome
Wikidata Alias
EN
BJORNSTAD SYNDROME, BJORNSTAD SYNDROME; BJS, BJS, Björnstad syndrome, Deafness-pili torti-hypogonadism syndrome, Deafness and pili torti, Bjornstad type, Pili torti-sensorineural hearing loss, Pili Torti and Nerve Deafness, Ptd, PTND

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