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.
| Achondroplasia |
Disease Literature AI (2279) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Maffucci Syndrome |
Disease Literature AI (400) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Ollier Disease |
Disease Literature AI (964) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Pseudoachondroplasia |
Disease Literature AI (1203) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Severe Achondroplasia-developmental Delay-acanthosis Nigricans Syndrome |
Disease Literature AI (22) | GARD:
OMIM:
Orphanet:
|
PubMed |