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
Bernard-soulier Syndrome Bdplt1 Bernard-soulier Syndrome, Type A1	GP1BB GP1BA GP9	Gene Disease Literature AI	Disease Literature AI (934)	GARD: 0002470 OMIM: 153670 Orphanet: 274	PubMed
Cerebellar Ataxia-hypogonadism Syndrome Cahh Cerebellar Ataxia And Hypogonadotropic Hypogonadism	RNF216 PNPLA6	Gene Disease Literature AI	Disease Literature AI (41)	GARD: 0003314 OMIM: 212840 Orphanet: 1173	PubMed
Hyperimmunoglobulinemia D With Periodic Fever Hids Hyperimmunoglobulinemia D And Periodic Fever Syndrome	MVK	Gene Disease Literature AI	Disease Literature AI (325)	GARD: 0002788 OMIM: 260920 Orphanet: 343	PubMed
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia Anos1 Hypogonadotropic Hypogonadism Anosmic Hypogonadism	ANOS1	Gene Disease Literature AI	Disease Literature AI (78)	GARD: 0003071 Orphanet: 478	PubMed
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia Autosomal Dominant Form Of Kallmann Syndrome Fgfr1 Hypogonadotropic Hypogonadism	FGFR1	Gene Disease Literature AI	Disease Literature AI (3)	GARD: 0003070	PubMed
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia Hh3 Hypogonadotropic Hypogonadism 3 With Anosmia	PROKR2	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0003073	PubMed
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia Hh4 Hypogonadotropic Hypogonadism 4 With Anosmia	PROK2	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0010772	PubMed
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia Chd7 Hypogonadotropic Hypogonadism Chd7-related Gnrh Deficiency (kallmann Syndrome 5)	CHD7	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0010773	PubMed
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia Fgf8 Hypogonadotropic Hypogonadism Fgf8-related Gnrh Deficiency (kallmann Syndrome 6)	FGF8	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0010774	PubMed
Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome Autoimmunity-immunodeficiency Syndrome, X-linked Autoimmune Enteropathy Type 1	FOXP3	Gene Disease Literature AI	Disease Literature AI (324)	GARD: 0001850 OMIM: 304790 Orphanet: 37042	PubMed
Leukocyte Adhesion Deficiency Type Ii Cdg 2c Cdg Iic	SLC35C1	Gene Disease Literature AI	Disease Literature AI (270)	GARD: 0004634 OMIM: 266265 Orphanet: 99843	PubMed
Obesity Due To Pro-opiomelanocortin Deficiency Obairh Obesity, Early-onset, With Adrenal Insufficiency And Red Hair	POMC	Gene Disease Literature AI	Disease Literature AI (42)	GARD: 0010823 OMIM: 609734 Orphanet: 71526	PubMed
Recurrent Metabolic Encephalomyopathic Crises-rhabdomyolysis-cardiac Arrhythmia-intellectual Disability Syndrome Mecrcn Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	TANGO2	Gene Disease Literature AI	Disease Literature AI (21)	GARD: 0013423 OMIM: 616878 Orphanet: 480864	PubMed
Rh Deficiency Syndrome Rh Deficiency Syndrome Rh-mod	RHAG RHCE RHD	Gene Disease Literature AI	Disease Literature AI (20)	GARD: 0012916 OMIM: 617970 Orphanet: 71275	PubMed

Showing 1 to 14 of 14 entries (filtered from 2,142 total entries)