MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Spastic paraplegia-precocious puberty syndrome

ORPHA:2826Disease
Autosomal dominant

Spastic paraplegia-severe developmental delay-epilepsy syndrome

ORPHA:464282Disease
Autosomal recessive

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

ORPHA:3011Disease
Autosomal recessive

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ORPHA:447997Disease
Autosomal recessive

Spectrin-associated autosomal recessive cerebellar ataxia

ORPHA:352403Disease
Autosomal recessive

Spermatocytic seminoma

ORPHA:99865Disease
Unknown

Spheroid body myopathy

ORPHA:268129Disease
Autosomal dominant

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

ORPHA:1217Disease

Spinal muscular atrophy with respiratory distress type 1

ORPHA:98920Disease
Autosomal recessive

Spinal muscular atrophy with respiratory distress type 2

ORPHA:404521Disease
Unknown

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

ORPHA:2590Disease
Autosomal recessive

Spinal pial arteriovenous fistula

ORPHA:715302Disease
Not applicable

Spindle cell hemangioma

ORPHA:210584Disease
Not applicable

Spinocerebellar ataxia type 1

ORPHA:98755Disease
Autosomal dominant

Spinocerebellar ataxia type 10

ORPHA:98761Disease
Autosomal dominant

Spinocerebellar ataxia type 11

ORPHA:98767Disease
Autosomal dominant

Spinocerebellar ataxia type 12

ORPHA:98762Disease
Autosomal dominant

Spinocerebellar ataxia type 13

ORPHA:98768Disease
Autosomal dominant

Spinocerebellar ataxia type 14

ORPHA:98763Disease
Autosomal dominant

Spinocerebellar ataxia type 15/16

ORPHA:98769Disease
Autosomal dominant

Spinocerebellar ataxia type 17

ORPHA:98759Disease
Autosomal dominant

Spinocerebellar ataxia type 18

ORPHA:98771Disease
Autosomal dominant

Spinocerebellar ataxia type 19/22

ORPHA:98772Disease
Autosomal dominant

Spinocerebellar ataxia type 2

ORPHA:98756Disease
Autosomal dominant