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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
4
I: Photoreceptor Diseases
4
IA: Isolated
4
IA1: Acquired/Progressive
3
IA1a: Retinitis Pigmentosa
IA1b: Cone and Cone Rod Dystrophy
3
IA1bi: X-linked
IA1bii: Autosomal Dominant
3
SR1066
| AD Cone and Cone Rod Dystrophy | Gene: GUCA1A
SR1740
| AD Cone and Cone Rod Dystrophy | Gene: GUCA1A
SR1868
| AD Cone and Cone Rod Dystrophy | Gene: GUCA1A
SR2332
| AD Cone and Cone Rod Dystrophy | Gene: GUCA1A
SR47
| AD Cone and Cone Rod Dystrophy | Gene: GUCA1A
SR48
| AD Cone and Cone Rod Dystrophy | Gene: GUCA1A
SR1062
| AD Cone and Cone Rod Dystrophy | Gene: GUCY2D
SR2306
| AD Cone and Cone Rod Dystrophy | Gene: GUCY2D
SR513
| AD Cone and Cone Rod Dystrophy | Gene: GUCY2D
SR256
| AD Cone and Cone Rod Dystrophy | Gene: PROM1
IA1biii: Autosomal Recessive
Other Cone and Cone Rod Dystrophy
IA2: Congenital/Stationary
1
IA2a: LCA
1
SR644
| Leber Congenital Amaurosis | Gene: CEP290
SR2325
| Leber Congenital Amaurosis | Gene: CEP290
SR2624
| Leber Congenital Amaurosis | Gene: CEP290
SR715
| Leber Congenital Amaurosis | Gene: CEP290
SR703
| Leber Congenital Amaurosis | Gene: AIPL1
SR82
| Leber Congenital Amaurosis | Gene: CRX
SR206
| Leber Congenital Amaurosis | Gene: NMNAT1
SR2292
| Leber Congenital Amaurosis | Gene: NMNAT1
SR561
| Leber Congenital Amaurosis | Gene: NMNAT1
SR2709
| Leber Congenital Amaurosis | Gene: GUCY2D
IA2b: SECORD
IA2c: ECORD
IA2d: Achromatopsia (Congenital Stationary Cone Dysfunction)
IA2e: Blue Cone Monochromacy
IA2f: Congenital Stationary Night Blindness
IA2g: Congenital Stationary Synaptic Dysfunction
IB: Syndromic
IB1: Usher Syndrome
IB2: Bardet Biedl Syndrome
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
SR497
| Cohen Syndrome | Gene: VPS13B
SR531
| Cohen Syndrome | Gene: VPS13B
SR597
| Cohen Syndrome | Gene: VPS13B
IB10: Retinitis Pigmentosa with Anemia
IB11: Retinitis Pigmentosa with Cognitive Impairment
Other Syndromic
II: Macular Diseases
III: Third Branch Disorders