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"

142 matching diseasesClear search ×

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

ORPHA:206580

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

ORPHA:319332

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

ORPHA:93329

Autosomal recessive optic atrophy, OPA7 type

ORPHA:227976

Autosomal recessive progressive external ophthalmoplegia

arPEO

ORPHA:254886

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

ORPHA:100982

Autosomal recessive secondary polycythemia not associated with VHL gene

Autosomal recessive secondary erythrocytosis not associated with VHL gene · Autosomal recessive secondary erythrocytosis, non-Chuvash type

ORPHA:247378

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

ORPHA:260305

Autosomal recessive spastic ataxia

AR-SPAX

ORPHA:316240

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

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