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.
| Congenital Glaucoma |
Disease Literature AI (2293) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Glaucoma 3, Primary Infantile, B |
Disease Literature AI (708) | GARD:
Orphanet:
|
PubMed | |||
| Glaucoma-ectopia Lentis-microspherophakia-stiff Joints-short Stature Syndrome |
Disease Literature AI (10) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Peters Anomaly |
Disease Literature AI (372) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Weill-marchesani Syndrome |
Disease Literature AI (304) | GARD:
OMIM:
Orphanet:
|
PubMed |