Alagille syndrome due to 20p12 microdeletion
|
(Orphanet:261600)
|
Alagille syndrome due to a JAG1 point mutation
|
(Orphanet:261619)
|
Alström syndrome
|
(Orphanet:64)
|
Bietti crystalline dystrophy
|
(Orphanet:41751)
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
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(OMIM:613105)
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CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3
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(OMIM:613144)
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CONE-ROD DYSTROPHY 2
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(OMIM:120970)
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Central areolar choroidal dystrophy
|
(Orphanet:75377)
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Choroideremia
|
(Orphanet:180)
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Choroideremia - deafness - obesity
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(Orphanet:1435)
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Cone rod dystrophy
|
(Orphanet:1872)
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Dandy-Walker malformation - postaxial polydactyly
|
(Orphanet:1566)
|
Gyrate atrophy of choroid and retina
|
(Orphanet:414)
|
Hyperornithinemia-hyperammonemia-homocitrullinuria
|
(Orphanet:415)
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
(Orphanet:5)
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Progressive bifocal chorioretinal atrophy
|
(Orphanet:75373)
|
RETINITIS PIGMENTOSA 27
|
(OMIM:613750)
|
RETINITIS PIGMENTOSA 30
|
(OMIM:607921)
|
RETINITIS PIGMENTOSA 47
|
(OMIM:613758)
|
RETINITIS PIGMENTOSA 7
|
(OMIM:608133)
|
Renal coloboma syndrome
|
(Orphanet:1475)
|
Sarcoidosis
|
(Orphanet:797)
|
Wagner disease
|
(Orphanet:898)
|
X-linked retinoschisis
|
(Orphanet:792)
|