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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
IA2: Congenital/Stationary
4
IA2a: LCA
IA2b: SECORD
IA2c: ECORD
IA2d: Achromatopsia (Congenital Stationary Cone Dysfunction)
4
SR2211
| Achromatopsia | Gene: CNGB3
SR27
| Achromatopsia | Gene: CNGB3
SR591
| Achromatopsia | Gene: CNGB3
SR729
| Achromatopsia | Gene: CNGB3
SR590
| Achromatopsia | Gene: CNGA3
SR72
| Achromatopsia | Gene: CNGA3
SR331
| Congenital Stationary Cone Dysfunction | Gene: KCNV2
IA2e: Blue Cone Monochromacy
IA2f: Congenital Stationary Night Blindness
IA2g: Congenital Stationary Synaptic Dysfunction
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
III: Third Branch Disorders