preferred_name: SRD5A3-congenital disorder of glycosylation
preferred_name_lc: srd5a3-congenital disorder of glycosylation
label: coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities
label_lc: coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities