Description |
OMIM Number |
ACHROMATOPSIA 2; ACHM2 |
216900 |
ALBINISM OCULOCUTANEOUS TYPE II; OCA2 |
203200 |
AMAUROSIS CONGENITA OF LEBER I |
204000 |
AMAUROSIS CONGENITA OF LEBER II |
204100 |
ANIRIDIA II, FORMERLY |
106210 |
BARDET-BIEDL SYNDROME, TYPE 2; BBS2 |
209900 |
CHOROIDEREMIA; CHM |
303100 |
CILIARY DYSKINESIA PRIMARY 1; CILD1 |
244400 |
ECTOPIA LENTIS, ISOLATED |
129600 |
KEARNS-SAYRE SYNDROME; KSS |
530000 |
LEBER OPTIC ATROPHY |
535000 |
LEOPARD SYNDROME |
151100 |
LOWE OCULOCEREBRORENAL SYNDROME; OCRL |
309000 |
MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 |
217800 |
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 |
136550 |
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE |
264800 |
PTERYGIUM OF CONJUNCTIVA AND CORNEA |
178000 |
RETINITIS PIGMENTOSA 1; RP1 |
180100 |
RETINITIS PIGMENTOSA 2; RP2 |
312600 |
RETINITIS PIGMENTOSA; RP |
268000 |
RETINOBLASTOMA; RB1 OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED |
180200 |
USHER SYNDROME TYPE I; USH1 |
276900 |
USHER SYNDROME TYPE IC; USH1C |
276904 |
USHER SYNDROME, TYPE IIA; USH2A |
276901 |
VON HIPPEL-LINDAU SYNDROME; VHL |
193300 |