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
SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN	View info
SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME	View info
SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA; SPAHGC	View info
SPECIFIC GRANULE DEFICIENCY 2; SGD2	View info
SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1	View info
SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5	View info
SPEECH-LANGUAGE DISORDER 1; SPCH1	View info
SPERMATOGENIC FAILURE 17; SPGF17	View info
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

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