Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
SPERMATOGENIC FAILURE 21; SPGF21	View info
SPERMATOGENIC FAILURE 23; SPGF23	View info
SPERMATOGENIC FAILURE 6; SPGF6	View info
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2	View info
SPHEROCYTOSIS, TYPE 1; SPH1	View info
SPHEROCYTOSIS, TYPE 4; SPH4	View info
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1	View info
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1	View info
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5	View info
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3	View info
SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ	View info
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK	View info
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT; SMALED2	View info
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	View info
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3	View info
SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2	View info
SPINOCEREBELLAR ATAXIA 10; SCA10	View info
SPINOCEREBELLAR ATAXIA 12; SCA12	View info
SPINOCEREBELLAR ATAXIA 15; SCA15	View info
SPINOCEREBELLAR ATAXIA 17; SCA17	View info

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