collie eye anomaly

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects gptkb:dog
gptkbp:affectsBreed gptkb:dog
gptkb:Australian_Shepherd
gptkb:Collie
gptkb:Shetland_Sheepdog
gptkb:Lancashire_Heeler
gptkbp:causedBy mutation in NHEJ1 gene
gptkbp:diagnosedBy genetic testing
ophthalmic examination
gptkbp:firstDescribed 1950s
https://www.w3.org/2000/01/rdf-schema#label collie eye anomaly
gptkbp:inheritance autosomal recessive
gptkbp:managedBy supportive care
gptkbp:prevalence high in Collies
gptkbp:prevention genetic screening of breeding dogs
gptkbp:symptom vision loss
choroidal hypoplasia
coloboma
retinal detachment
gptkbp:treatment no cure
gptkbp:bfsParent gptkb:dog
gptkbp:bfsLayer 4