|
Description | Omim Number | Sample Count |
ACHROMATOPSIA 2; ACHM2 | 216900 | 1 |
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 | 203200 | 2 |
ANIRIDIA 1; AN1 | 106210 | 5 |
BARDET-BIEDL SYNDROME 1; BBS1 | 209900 | 13 |
CHOROIDEREMIA; CHM | 303100 | 1 |
CILIARY DYSKINESIA, PRIMARY, 1; CILD1 | 244400 | 1 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 | 129600 | 1 |
KEARNS-SAYRE SYNDROME; KSS | 530000 | 2 |
LEBER CONGENITAL AMAUROSIS 1; LCA1 | 204000 | 2 |
LEBER OPTIC ATROPHY | 535000 | 3 |
LEOPARD SYNDROME 1; LPRD1 | 151100 | 4 |
LOWE OCULOCEREBRORENAL SYNDROME; OCRL | 309000 | 2 |
MACULAR DYSTROPHY, CORNEAL; MCD | 217800 | 1 |
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 | 136550 | 2 |
PSEUDOXANTHOMA ELASTICUM; PXE | 264800 | 1 |
PTERYGIUM OF CONJUNCTIVA AND CORNEA | 178000 | 2 |
RETINITIS PIGMENTOSA 1; RP1 | 180100 | 28 |
RETINITIS PIGMENTOSA 1; RP1 | 180100 | 136 |
RETINITIS PIGMENTOSA 2; RP2 | 312600 | 28 |
RETINITIS PIGMENTOSA; RP | 268000 | 28 |