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.
| Carpenter Syndrome |
Disease Literature AI (98) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Cole-carpenter Syndrome |
Disease Literature AI (13) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Corpus Callosum Agenesis-abnormal Genitalia Syndrome |
Disease Literature AI (5) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Infantile Neuroaxonal Dystrophy |
Disease Literature AI (357) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Intellectual Developmental Disorder, X-linked, Syndromic, Turner Type |
Disease Literature AI (38159) | GARD:
|
PubMed | |||
| Intellectual Disability-developmental Delay-contractures Syndrome |
Disease Literature AI (1286) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Intellectual Disability-hypotonic Facies Syndrome, X-linked, 1 |
Disease Literature AI (1556) | GARD:
|
PubMed |