congenital cataract

GPTKB entity

Statements (35)
Predicate Object
gptkbp:instanceOf gptkb:disease
eye
gptkbp:affects lens of the eye
gptkbp:associatedWith gptkb:Down_syndrome
gptkb:galactosemia
TORCH infections
rubella infection during pregnancy
gptkbp:can_be_unilateral_or_bilateral true
gptkbp:cause gptkb:trauma
gptkb:amblyopia
blindness
genetic mutations
metabolic disorders
vision impairment
clouding of the lens
intrauterine infection
gptkbp:detects red reflex test
gptkbp:diagnosedBy eye examination
https://www.w3.org/2000/01/rdf-schema#label congenital cataract
gptkbp:ICD-10_code Q12.0
gptkbp:inheritance autosomal dominant
autosomal recessive
X-linked
gptkbp:MeSH_ID D002386
gptkbp:onset shortly after birth
at birth
gptkbp:symptom cloudy or blurry vision
white pupillary reflex (leukocoria)
gptkbp:treatment intraocular lens implantation
surgical removal of cataract
gptkbp:bfsParent gptkb:EPHA2
gptkb:leukocoria
gptkb:Aquaporin-1
gptkb:FYCO1
gptkbp:bfsLayer 8