Browse Rare Disease Information
The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the disease name, lists all the disease aliases available in RARe-SOURCE™ for this disease as well as recent publications obtained from PubMed. Clicking on the associated gene lands on the ‘Gene Information’ page with specific details on the gene.
| Achromatopsia 3 |
Disease Literature AI (16) | GARD:
Orphanet:
|
PubMed | |||
| Congenital Stationary Night Blindness |
Disease Literature AI (454) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Donnai-barrow Syndrome |
Disease Literature AI (44) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| High Myopia-sensorineural Deafness Syndrome |
Disease Literature AI (1) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Knobloch Syndrome |
Disease Literature AI (88) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Marshall Syndrome |
Disease Literature AI (71) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Myopia 6 |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
|
PubMed |