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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Bjornstad syndrome
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Accession:EFO:MONDO:0009872 term browser browse the term
Definition:Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.
Synonyms:exact_synonym: deafness-pili torti-hypogonadism syndrome
 related_synonym: BJS;   BJörnstad syndrome;   PTD;   PTND;   deafness and pili torti, Bjornstad type;   pili torti and nerve deafness;   pili torti-sensorineural hearing loss
 alt_id: MONDO:0009872
 xref: DOID:0050677;   GARD:22;   MEDGEN:82728;   MESH:C537633;   MIM:262000;   NORD:859;   ORDO:123;   UMLS:C0266006
 see_also: https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome" xsd:anyURI {source="GARD:0000022


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                Bjornstad syndrome 0
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