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.
| King-denborough Syndrome |
Disease Literature AI (76) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Neurofibromatosis-noonan Syndrome |
Disease Literature AI (59) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Noonan Syndrome |
Disease Literature AI (2062) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Noonan Syndrome With Multiple Lentigines |
Disease Literature AI (454) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Noonan Syndrome-like Disorder With Loose Anagen Hair |
Disease Literature AI (24) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Short Rib-polydactyly Syndrome, Saldino-noonan Type |
Disease Literature AI (13) | GARD:
OMIM:
Orphanet:
|
PubMed |