Rare Disease Library

Autosomal recessive spastic paraplegia type 71

SPG71

Autosomal recessive spastic paraplegia type 74

SPG74

Autosomal recessive spastic paraplegia type 75

SPG75

Autosomal recessive spastic paraplegia type 76

SPG76

Autosomal recessive spastic paraplegia type 77

SPG77

Autosomal recessive spastic paraplegia type 78

SPG78

Autosomal recessive spastic paraplegia type 82

Autosomal recessive spastic paraplegia type 83

Autosomal recessive spastic paraplegia type 84

Autosomal recessive spastic paraplegia type 85

Autosomal recessive spastic paraplegia type 86

Autosomal recessive spastic paraplegia type 87

Autosomal recessive spastic paraplegia type 9B

AR-SPG9B

Autosomal spastic paraplegia type 18

SPG18

Autosomal spastic paraplegia type 30

SPG30

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

Autosomal spastic paraplegia type 72

SPG72

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive spastic paraplegia type 79

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

HSAN due to TECPR2 mutation · Autosomal recessive spastic paraplegia type 49

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Spastic ataxia

SPAX

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia