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 Central Hypoventilation Syndrome |
Disease Literature AI (820) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Hirschsprung Disease-ganglioneuroblastoma Syndrome |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
Orphanet:
|
PubMed | ||
| Hirschsprung Disease |
Disease Literature AI (531) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Ichthyosis Follicularis-alopecia-photophobia Syndrome |
Disease Literature AI (53) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Waardenburg-shah Syndrome |
Disease Literature AI (139) | GARD:
OMIM:
Orphanet:
|
PubMed |