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 ×

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

ORPHA:171876

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

ORPHA:67047

Autosomal recessive amelia

ORPHA:1027

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

ORPHA:139485

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

ORPHA:88644

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81

ORPHA:506353

Autosomal recessive cutis laxa type 1

ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement

ORPHA:90349

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

ORPHA:90350

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

ORPHA:357074

Autosomal recessive cutis laxa type 2A

ARCL2A

ORPHA:357058

Autosomal recessive cutis laxa type 2B

ARCL2, progeroid type · ARCL2B

ORPHA:357064

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

ORPHA:140468

Autosomal recessive optic atrophy, OPA7 type

ORPHA:227976

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

ORPHA:100982

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

ORPHA:98

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

ORPHA:314603

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

ORPHA:254343

Autosomal recessive spastic paraplegia type 11

Nakamura-Osame syndrome · SPG11

ORPHA:2822

Autosomal recessive spastic paraplegia type 14

SPG14

ORPHA:100995

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

ORPHA:101000

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

ORPHA:101001

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

ORPHA:101003

Autosomal recessive spastic paraplegia type 24

SPG24

ORPHA:101004

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25

ORPHA:101005

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

ORPHA:101006

Autosomal recessive spastic paraplegia type 27

SPG27

ORPHA:101007

Autosomal recessive spastic paraplegia type 28

SPG28

ORPHA:101008

Autosomal recessive spastic paraplegia type 32

SPG32

ORPHA:171622

Autosomal recessive spastic paraplegia type 35

SPG35

ORPHA:171629

Autosomal recessive spastic paraplegia type 39

SPG39 · Spastic paraplegia due to NTE mutation

ORPHA:139480

Autosomal recessive spastic paraplegia type 43

SPG43

ORPHA:320370

Autosomal recessive spastic paraplegia type 44

SPG44

ORPHA:320401

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 65 · SPG45

ORPHA:320396

Autosomal recessive spastic paraplegia type 46

SPG46

ORPHA:320391

Autosomal recessive spastic paraplegia type 48

SPG48

ORPHA:306511

Autosomal recessive spastic paraplegia type 53

SPG53

ORPHA:319199

Autosomal recessive spastic paraplegia type 54

SPG54

ORPHA:320380

Autosomal recessive spastic paraplegia type 55

SPG55

ORPHA:320375

Autosomal recessive spastic paraplegia type 56

SPG56

ORPHA:320411

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