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.
| Ankyloblepharon Filiforme Adnatum-cleft Palate Syndrome |
Disease Literature AI (103) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Autosomal Dominant Popliteal Pterygium Syndrome |
Disease Literature AI (1212) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Blepharo-cheilo-odontic Syndrome |
Disease Literature AI (1253) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Bor Syndrome |
Disease Literature AI (358) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Branchio-oculo-facial Syndrome |
Disease Literature AI (97) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Cleft Lip/palate-ectodermal Dysplasia Syndrome |
Disease Literature AI (23) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Eec Syndrome |
Disease Literature AI (263) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Hartsfield Syndrome |
Disease Literature AI (18) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Kallmann Syndrome |
Disease Literature AI (108) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Orofaciodigital Syndrome Type 5 |
Disease Literature AI (83) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Orofaciodigital Syndrome Type 6 |
Disease Literature AI (45) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Roberts Syndrome |
Disease Literature AI (264) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Uveal Coloboma-cleft Lip And Palate-intellectual Disability |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
Orphanet:
|
PubMed | ||
| Van Der Woude Syndrome |
Disease Literature AI (972) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Vici Syndrome |
Disease Literature AI (77) | GARD:
OMIM:
Orphanet:
|
PubMed |