Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

85 matching diseasesClear search ×

Autosomal recessive spastic paraplegia type 67

SPG67

ORPHA:401820

Autosomal recessive spastic paraplegia type 68

SPG68

ORPHA:401825

Autosomal recessive spastic paraplegia type 69

SPG69

ORPHA:401830

Autosomal recessive spastic paraplegia type 70

SPG70

ORPHA:401835

Autosomal recessive spastic paraplegia type 71

SPG71

ORPHA:401840

Autosomal recessive spastic paraplegia type 74

SPG74

ORPHA:468661

Autosomal recessive spastic paraplegia type 75

SPG75

ORPHA:459056

Autosomal recessive spastic paraplegia type 76

SPG76

ORPHA:488594

Autosomal recessive spastic paraplegia type 77

SPG77

ORPHA:466722

Autosomal recessive spastic paraplegia type 78

SPG78

ORPHA:513436

Autosomal recessive spastic paraplegia type 82

ORPHA:631073

Autosomal recessive spastic paraplegia type 83

ORPHA:631076

Autosomal recessive spastic paraplegia type 84

ORPHA:631079

Autosomal recessive spastic paraplegia type 85

ORPHA:631082

Autosomal recessive spastic paraplegia type 86

ORPHA:631085

Autosomal recessive spastic paraplegia type 87

ORPHA:631088

Autosomal recessive spastic paraplegia type 9B

AR-SPG9B

ORPHA:447760

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

ORPHA:293603

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

ORPHA:221145

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

Autosomal recessive spastic paraplegia type 79

ORPHA:352654

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

ORPHA:313772

Fukutin-related limb-girdle muscular dystrophy R13

LGMD2M · Autosomal recessive limb-girdle muscular dystrophy type 2M

ORPHA:206554

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

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

ORPHA:320385

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2

ORPHA:88660

Kjellin syndrome

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

ORPHA:100996

Liddle syndrome

Pseudoaldosteronism

ORPHA:526

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

ORPHA:178389

Pseudohypoaldosteronism

ORPHA:444916

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

ORPHA:756

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

ORPHA:757

Pseudohypoaldosteronism type 2A

PHA2A

ORPHA:88938

Pseudohypoaldosteronism type 2B

PHA2B

ORPHA:88939

Pseudohypoaldosteronism type 2C

PHA2C

ORPHA:88940

Pseudohypoaldosteronism type 2D

PHA2D

ORPHA:300525

Pseudohypoaldosteronism type 2E

PHA2E

ORPHA:300530

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

ORPHA:171871

Transient pseudohypoaldosteronism

TPHA · Secondary pseudohypoaldosteronism

ORPHA:93164