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 Cataract-progressive Muscular Hypotonia-hearing Loss-developmental Delay Syndrome |
Disease Literature AI (267) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Congenital Factor X Deficiency |
Disease Literature AI (358) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Congenital Factor Xi Deficiency |
Disease Literature AI (607) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Congenital Factor Xii Deficiency |
Disease Literature AI (283) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Congenital Factor Xiii Deficiency |
Disease Literature AI (480) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Congenital Isolated Acth Deficiency |
Disease Literature AI (3656) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Kallmann Syndrome |
Disease Literature AI (108) | GARD:
OMIM:
Orphanet:
|
PubMed |