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
Bor Syndrome Bof Syndrome Bor	SIX1 EYA1 SIX5	Gene Disease Literature AI	Disease Literature AI (358)	GARD: 0010147 OMIM: 113650 Orphanet: 107	PubMed
Borjeson-forssman-lehmann Syndrome Bfls Borj	PHF6	Gene Disease Literature AI	Disease Literature AI (51)	GARD: 0000936 OMIM: 301900 Orphanet: 127	PubMed
Branchiootic Syndrome Anterior Segment Anomalies With Or Without Cataract Bo Syndrome 1	EYA1 SIX1	Gene Disease Literature AI	Disease Literature AI (121)	GARD: 0010148 OMIM: 602588 Orphanet: 52429	PubMed
Cerebellar Ataxia-areflexia-pes Cavus-optic Atrophy-sensorineural Hearing Loss Syndrome Adoa Plus Adoa Plus (autosomal Dominant Optic Atrophy Plus)	ATP1A3	Gene Disease Literature AI	Disease Literature AI (272)	GARD: 0001188 OMIM: 601338 Orphanet: 1171	PubMed
Congenital Alveolar Capillary Dysplasia Acd Mpv Acd-mpv	FOXF1	Gene Disease Literature AI	Disease Literature AI (1237)	GARD: 0008644 OMIM: 265380 Orphanet: 210122	PubMed
Dicarboxylic Aminoaciduria Dcbxa Dicarboxylic Amino Aciduria	SLC1A1	Gene Disease Literature AI	Disease Literature AI (744)	GARD: 0001855 OMIM: 222730 Orphanet: 2195	PubMed
Floating-harbor Syndrome Fhs Flhs	SRCAP	Gene Disease Literature AI	Disease Literature AI (293)	GARD: 0006455 OMIM: 136140 Orphanet: 2044	PubMed
Frank-ter Haar Syndrome Autosomal Recessive Melnick-needles Syndrome (formerly) Borrone Dermatocardioskeletal Syndrome	SH3PXD2B	Gene Disease Literature AI	Disease Literature AI (239)	GARD: 0005138 OMIM: 249420 Orphanet: 137834	PubMed
Jeune Syndrome Atd Atd1	IFT172 WDR19 DYNC2I1 DYNC2LI1 TTC21B CEP120 DYNC2I2 IFT140 IFT80 DYNC2H1	Gene Disease Literature AI	Disease Literature AI (836)	GARD: 0003049 OMIM: 614376 Orphanet: 474	PubMed
King-denborough Syndrome Anesthetic-induced Malignant Hyperpyrexia In Children Kds	RYR1	Gene Disease Literature AI	Disease Literature AI (76)	GARD: 0008433 OMIM: 145600 Orphanet: 99741	PubMed
Lamellar Ichthyosis Baby Syndrome, Collodion Baby Syndrome, Harlequin	LIPN ALOXE3 TGM1 SDR9C7 ABCA12 NIPAL4 SULT2B1 CYP4F22 ALOX12B	Gene Disease Literature AI	Disease Literature AI (1493)	GARD: 0010803 OMIM: 604777 Orphanet: 313	PubMed
Mehmo Syndrome Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, Obesity Syndrome	EIF2S3	Gene Disease Literature AI	Disease Literature AI (16)	GARD: 0009178 OMIM: 300148 Orphanet: 85282	PubMed
Norrie Disease Atrophia Bulborum Hereditaria Anderson-warburg Syndrome	NDP	Gene Disease Literature AI	Disease Literature AI (3313)	GARD: 0007224 OMIM: 310600 Orphanet: 649	PubMed
Progressive Myoclonic Epilepsy Type 1 Baltic Myoclonic Epilepsy Baltic Myoclonic Epilepsies	PRICKLE1 CSTB SCARB2	Gene Disease Literature AI	Disease Literature AI (780)	GARD: 0003876 OMIM: 310370 Orphanet: 308	PubMed
Smith-lemli-opitz Syndrome 7-dehydrocholesterol Reductase Deficiencies 7-dehydrocholesterol Reductase Deficiency	DHCR7	Gene Disease Literature AI	Disease Literature AI (819)	GARD: 0005683 OMIM: 270400 Orphanet: 818	PubMed

Showing 1 to 15 of 15 entries (filtered from 2,142 total entries)