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.
| Becker Nevus Syndrome |
Disease Literature AI (25) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Breast-ovarian Cancer, Familial, Susceptibility To, 1 |
Disease Literature AI (1924) | GARD:
Orphanet:
|
PubMed | |||
| East Syndrome |
Disease Literature AI (33) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Li-fraumeni Syndrome |
Disease Literature AI (1530) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Marden-walker Syndrome |
Disease Literature AI (336) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Partial Androgen Insensitivity Syndrome |
Disease Literature AI (331) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Sanjad-sakati Syndrome |
Disease Literature AI (759) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Transient Familial Neonatal Hyperbilirubinemia |
Disease Literature AI (99) | GARD:
OMIM:
Orphanet:
|
PubMed |