You are using an outdated browser. Please upgrade your browser to improve your experience.

cataract 13 with adult I phenotype

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
Uniprot Description An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen.
Disease Ontology Description A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
Mondo Term and Equivalent IDs
MONDO:0007289:  cataract 13 with adult I phenotype
UMLS:C3805373: