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Disease Atlas
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Disease Atlas
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Show Cases Added By Recency:
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All Diseases
2
I: Photoreceptor Diseases
IA: Isolated
IB: Syndromic
IB1: Usher Syndrome
IB2: Bardet Biedl Syndrome
SR1065
| Bardet Biedl Syndrome | Gene: BBS1
SR114
| Bardet Biedl Syndrome | Gene: BBS1
SR2059
| Bardet Biedl Syndrome | Gene: BBS1
SR2842
| Bardet Biedl Syndrome | Gene: BBS1
SR343
| Bardet Biedl Syndrome | Gene: BBS1
SR540
| Bardet Biedl Syndrome | Gene: BBS1
SR56
| Bardet Biedl Syndrome | Gene: BBS1
SR451
| Bardet Biedl Syndrome | Gene: BBS2
SR1897
| Bardet Biedl Syndrome | Gene: BBS10
SR1914
| Bardet Biedl Syndrome | Gene: BBS10
SR32
| Bardet Biedl Syndrome | Gene: BBS10
SR1058
| Bardet Biedl Syndrome | Gene: MKKS
SR321
| Bardet Biedl Syndrome | Gene: BBS9
IB3: Neuronal Ceroid Lipofucinosis
IB4: Senior-Loken Syndrome
IB5: Joubert Syndrome
IB6: Microcephaly with or without Chorioretinopathy, Lymphedema
IB7: Retinitis Pigmentosa with Ataxia
IB8: Peroxisomal Biogenesis Disorders
IB9: Cohen Syndrome
IB10: Retinitis Pigmentosa with Anemia
IB11: Retinitis Pigmentosa with Cognitive Impairment
Other Syndromic
II: Macular Diseases
2
IIA: Autosomal Recessive Stargardt Disease
IIB: Best Disease
IIC: Pattern Dystrophy
IID: Syndromic Macular Diseases
IID1: Mitochondrial Macular Dystrophy
IID2: Pseudoxanthoma Elasticum
SR2274
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR1702
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR1899
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR2289
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR2291
| Pseudoxanthoma Elasticum | Gene: ABCC6
SR65
| Pseudoxanthoma Elasticum | Gene: ABCC6
IID3: Homocystinuria with Macular Atrophy
IID4: Spinocerebellar Atrophy
IIE: Occult Macular Dystrophy
IIF: Stargardt-like Dominant Macular Dystrophy
IIG: North Carolina Macular Dystrophy
2
SR20
| North Carolina Macular Dystrophy | Gene: PRDM13
SR2018
| North Carolina Macular Dystrophy | Gene: PRDM13
SR614
| North Carolina Macular Dystrophy | Gene: PRDM13
SR1751
| North Carolina Macular Dystrophy | Gene: IRX1
SR763
| North Carolina Macular Dystrophy | Gene: IRX1
IIH: Sorsby Fundus Dystrophy
IIJ: Malattia Leventinese
Other Macular Diseases
III: Third Branch Disorders