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 |