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- Ba84b7b13de9e435d74bebfb44c9a67fb hasDbXref "https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome" @default.
- Ba84b7b13de9e435d74bebfb44c9a67fb type Axiom @default.
- Ba84b7b13de9e435d74bebfb44c9a67fb annotatedProperty IAO_0000115 @default.
- Ba84b7b13de9e435d74bebfb44c9a67fb annotatedSource MONDO_0009872 @default.
- Ba84b7b13de9e435d74bebfb44c9a67fb annotatedTarget "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." @default.