Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:judge
hair |
| gptkbp:characterizedBy |
sensorineural hearing loss
pili torti |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
Roar Theodor Bjørnstad
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bjornstad syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
BCS1L gene
|
| gptkbp:namedAfter |
Roar Theodor Bjørnstad
|
| gptkbp:OMIM |
262000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
brittle hair
progressive hearing loss |
| gptkbp:bfsParent |
gptkb:BCS1L
|
| gptkbp:bfsLayer |
8
|