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.
| Non-acquired Combined Pituitary Hormone Deficiency-sensorineural Hearing Loss-spine Abnormalities Syndrome |
Disease Literature AI (3) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Pituitary Hormone Deficiency, Combined 1 |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
|
PubMed | ||
| Septo-optic Dysplasia Spectrum |
Disease Literature AI (848) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Short Stature-pituitary And Cerebellar Defects-small Sella Turcica Syndrome |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
Orphanet:
|
PubMed |