preferred_name: SRD5A3-congenital disorder of glycosylation
preferred_name_lc: srd5a3-congenital disorder of glycosylation
label: Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
label_lc: coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities