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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
5
I: Photoreceptor Diseases
3
IA: Isolated
3
IA1: Acquired/Progressive
IA2: Congenital/Stationary
3
IA2a: LCA
IA2b: SECORD
3
SR302
| SECORD | Gene: CEP290
SR43
| SECORD | Gene: RDH12
SR201
| SECORD | Gene: CEP290
SR2368
| SECORD | Gene: CEP290
SR1796
| SECORD | Gene: CRB1
SR263
| SECORD | Gene: CRB1
SR54
| SECORD | Gene: NMNAT1
SR2921
| SECORD | Gene: RPE65
SR741
| SECORD | Gene: RPE65
SR88
| SECORD | Gene: RPE65
SR627
| SECORD | Gene: RPGRIP1
SR306
| SECORD | Gene: LCA5
SR2702
| SECORD | Gene: OTX2
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
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
2
IIIA: Choroidopathies
2
IIIA1: Choroideremia
2
IIIA1a: X-linked
IIIA1b: Autosomal Dominant
2
SR2666
| AD Choroideremia | Gene: RPE65
SR3010
| AD Choroideremia | Gene: RPE65
IIIA2: Gyrate Atrophy
IIIA3: Late Onset Retinal Dystrophy
IIIA4: Syndromic Choroidopathies
IIIB: Retinoschisis
IIIC: Optic Neuropathies
IIID: Tumors
IIIE: Vitreoretinopathies
IIIF: Albinism
IIIG: Isolated Foveal Hypoplasia