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