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.
| Acrocallosal Syndrome |
Disease Literature AI (18728) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Joubert Syndrome 2 |
Disease Literature AI (3) | GARD:
|
PubMed | |||
| Joubert Syndrome With Hepatic Defect |
Disease Literature AI (718) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Joubert Syndrome With Ocular Defect |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
Orphanet:
|
PubMed | ||
| Joubert Syndrome With Oculorenal Defect |
Disease Literature AI (25) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Joubert Syndrome With Renal Defect |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
Orphanet:
|
PubMed | ||
| Joubert Syndrome |
Disease Literature AI (927) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Orofaciodigital Syndrome Type 6 |
Disease Literature AI (45) | GARD:
OMIM:
Orphanet:
|
PubMed |