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.

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	Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links

Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links
Autosomal Dominant Omodysplasia Omod2 Omodysplasia, Autosomal Dominant	FZD2	Gene Disease Literature AI	Disease Literature AI (12651)	GARD: 0003643 OMIM: 164745 Orphanet: 93328	PubMed
Autosomal Recessive Omodysplasia Micromelic Dysplasia, Congenital, With Dislocation Of Radius Micromelic Dysplasia - Dislocation Of Radius	GPC6	Gene Disease Literature AI	Disease Literature AI (12)	GARD: 0004076 OMIM: 258315 Orphanet: 93329	PubMed
Epidermodysplasia Verruciformis Disease, Lewandowsky-lutz Disease, Lutz-lewandowsky	IL7 TMC8 CIB1 TMC6	Gene Disease Literature AI	Disease Literature AI (1526)	GARD: 0006357 OMIM: 618231 Orphanet: 302	PubMed
Mody Diabetes, Maturity-onset, Of The Young (mody) Mason-type Diabetes	KLF11 CEL HNF1A BLK APPL1 NEUROD1 PAX4 KCNJ11 GCK INS PDX1 ABCC8 HNF4A	Gene Disease Literature AI	Disease Literature AI (1399)	GARD: 0003697 OMIM: 616511 Orphanet: 552	PubMed
Opsismodysplasia Opsismodysplasia; Opsmd Opsmd	INPPL1	Gene Disease Literature AI	Disease Literature AI (26)	GARD: 0004098 OMIM: 258480 Orphanet: 2746	PubMed

Showing 1 to 5 of 5 entries (filtered from 2,142 total entries)