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"

155 matching diseasesClear search ×

Autosomal recessive spastic paraplegia type 57

SPG57 · Spastic paraplegia due to partial TFG deficiency

ORPHA:431329

Autosomal recessive spastic paraplegia type 59

SPG59

ORPHA:401795

Autosomal recessive spastic paraplegia type 5A

SPG5A

ORPHA:100986

Autosomal recessive spastic paraplegia type 60

SPG60

ORPHA:401800

Autosomal recessive spastic paraplegia type 61

SPG61

ORPHA:401780

Autosomal recessive spastic paraplegia type 62

SPG62

ORPHA:401785

Autosomal recessive spastic paraplegia type 63

SPG63

ORPHA:401805

Autosomal recessive spastic paraplegia type 64

SPG64

ORPHA:401810

Autosomal recessive spastic paraplegia type 66

SPG66

ORPHA:401815

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

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

ORPHA:2311

Autosomal recessive Stickler syndrome

ORPHA:250984

Autosomal recessive syndromic cerebellar ataxia

ORPHA:98099

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

ORPHA:1234

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

ORPHA:175

Charcot-Marie-Tooth disease type 2B1

AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1

ORPHA:98856

Charcot-Marie-Tooth disease type 2B2

AR-CMT2B2 · Autosomal recessive axonal CMT4C3

ORPHA:101101

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

ORPHA:228374

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

ORPHA:101102

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

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

ORPHA:139552

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

ORPHA:139547

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

ORPHA:707983

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

Exfoliative ichthyosis

Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa

ORPHA:289586

Fukutin-related limb-girdle muscular dystrophy R13

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

ORPHA:206554

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

ORPHA:171876

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

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

ORPHA:320385

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

ORPHA:970

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

ORPHA:685067