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
SOTOS SYNDROME 1; SOTOS1	View info
SOTOS SYNDROME 2; SOTOS2	View info
SOTOS SYNDROME 3; SOTOS3	View info
SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1	View info
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2	View info
SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3	View info
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5	View info
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP	View info
SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10	View info
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11	View info
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12	View info
SPASTIC PARAPLEGIA 16, X-LINKED; SPG16	View info
SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17	View info
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18	View info
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19	View info
SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20	View info
SPASTIC PARAPLEGIA 23; SPG23	View info
SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29	View info
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A	View info
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30	View info

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