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 72, AUTOSOMAL RECESSIVE; SPG72	View info
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73	View info
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74	View info
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75	View info
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76	View info
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE; SPG77	View info
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78	View info
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8	View info
SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A	View info
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B	View info
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS	View info
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO	View info
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

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