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.
| 22q11.2 Deletion Syndrome |
Disease Literature AI (4413) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Activated Pi3k-delta Syndrome |
Disease Literature AI (249) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Autoimmune Enteropathy And Endocrinopathy-susceptibility To Chronic Infections Syndrome |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
Orphanet:
|
PubMed | ||
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
Disease Literature AI (19) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
Disease Literature AI (129) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Chronic Mucocutaneous Candidiasis |
Disease Literature AI (1201) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Combined Immunodeficiency Due To Lrba Deficiency |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
Orphanet:
|
PubMed | ||
| Combined Immunodeficiency Due To Orai1 Deficiency |
Gene Disease Literature AI (0)
|
Disease Literature AI (0) | GARD:
OMIM:
Orphanet:
|
PubMed | ||
| Combined Immunodeficiency Due To Stim1 Deficiency |
Disease Literature AI (27) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Common Variable Immunodeficiency |
Disease Literature AI (3045) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Dock2 Deficiency |
Disease Literature AI (25) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Hepatic Veno-occlusive Disease-immunodeficiency Syndrome |
Disease Literature AI (9) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Hoyeraal-hreidarsson Syndrome |
Disease Literature AI (775) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
Disease Literature AI (49) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Icf Syndrome |
Disease Literature AI (163) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Idiopathic Cd4 Lymphocytopenia |
Disease Literature AI (311) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Immunodeficiency 61 |
Disease Literature AI (7702) | GARD:
|
PubMed | |||
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency |
Disease Literature AI (49) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Monocytopenia With Susceptibility To Infections |
Disease Literature AI (311) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Pgm3-cdg |
Disease Literature AI (39) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| Reticular Dysgenesis |
Disease Literature AI (151) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| T-b+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
Disease Literature AI (659) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| X-linked Agammaglobulinemia |
Disease Literature AI (1261) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| X-linked Hyper-igm Syndrome |
Disease Literature AI (617) | GARD:
OMIM:
Orphanet:
|
PubMed | |||
| X-linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency |
Disease Literature AI (3) | GARD:
OMIM:
Orphanet:
|
PubMed |