StoneRounds
Volunteer
Un-volunteer
Open Diagnosis Box
Leaderboard
StoneRounds
Disease Atlas
SR:
Volunteer
Un-volunteer
Open Diagnosis Box
Leaderboard
Search
Not logged in
Log in
Register
Terms of Use
Join Teaching Session
Log in
Register
Terms of Use
Join Teaching Session
Search
StoneRounds
Disease Atlas
JavaScript is disabled.
Without JavaScript enabled, this site will not function properly.
Please follow
these instructions
in order to enable JavaScript in your browser.
Disease Atlas
Search
Reset
Create
Show Cases Added By Recency:
All Time
Last Month
Last Six Months
Last Year
Expand all
/
Collapse all
All Diseases
2
I: Photoreceptor Diseases
IA: Isolated
IB: Syndromic
IB1: Usher Syndrome
IB1a: Type I
IB1b: Type II
IB1c: Type III
Other 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
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
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
SR869
| Occult Macular Dystrophy | Gene: RP1L1
SR1887
| Occult Macular Dystrophy | Gene: RP1L1
SR879
| Occult Macular Dystrophy | Gene: RP1L1
SR955
| Occult Macular Dystrophy | Gene: RP1L1
SR988
| Occult Macular Dystrophy | Gene: RP1L1
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