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"

190 matching diseasesClear search ×

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

ORPHA:448251

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

ORPHA:642747

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

ORPHA:352403

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

ORPHA:98920

Spinocerebellar ataxia type 14

SCA14

ORPHA:98763

Spinocerebellar ataxia type 20

SCA20

ORPHA:101110

Spinocerebellar ataxia type 22

SCA22

ORPHA:101107

Spinocerebellar ataxia type 23

SCA23

ORPHA:101108

Spinocerebellar ataxia type 25

SCA25

ORPHA:101111

Spinocerebellar ataxia type 26

SCA26

ORPHA:101112

Spinocerebellar ataxia type 27A

SCA27A

ORPHA:98764

Spinocerebellar ataxia type 27B

ORPHA:675216

Spinocerebellar ataxia type 28

SCA28

ORPHA:101109

Spinocerebellar ataxia type 29

Congenital nonprogressive spinocerebellar ataxia · SCA29

ORPHA:208513

Spinocerebellar ataxia type 30

SCA30

ORPHA:211017

Spinocerebellar ataxia type 31

SCA31

ORPHA:217012

Spinocerebellar ataxia type 32

Cerebellar ataxia with azoospermia and intellectual disability · SCA32

ORPHA:276183

Spinocerebellar ataxia type 34

Erythrokeratodermia with ataxia · SCA34

ORPHA:1955

Spinocerebellar ataxia type 35

SCA35

ORPHA:276193

Spinocerebellar ataxia type 36

Asidan · SCA36

ORPHA:276198

Spinocerebellar ataxia type 37

SCA37 · Spinocerebellar ataxia with altered vertical eye movements

ORPHA:363710

Spinocerebellar ataxia type 38

SCA38

ORPHA:423296

Spinocerebellar ataxia type 4

SCA4

ORPHA:98765

Spinocerebellar ataxia type 40

SCA40

ORPHA:423275

Spinocerebellar ataxia type 41

SCA41

ORPHA:458798

Spinocerebellar ataxia type 42

SCA42

ORPHA:458803

Spinocerebellar ataxia type 43

SCA43

ORPHA:497764

Spinocerebellar ataxia type 44

ORPHA:631095

Spinocerebellar ataxia type 45

SCA45

ORPHA:589527

Spinocerebellar ataxia type 46

SCA46

ORPHA:589522

Spinocerebellar ataxia type 48

ORPHA:631103

Spinocerebellar ataxia type 49

ORPHA:631106

Spinocerebellar ataxia type 5

SCA5

ORPHA:98766

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

ORPHA:94147

Spinocerebellar ataxia type 8

SCA8

ORPHA:98760

Spinocerebellar ataxia with axonal neuropathy type 1

SCAN1

ORPHA:94124

Spinocerebellar ataxia with axonal neuropathy type 2

AOA2 · Ataxia-oculomotor apraxia type 2

ORPHA:64753

Spinocerebellar ataxia with epilepsy

MSCAE · Mitochondrial spinocerebellar ataxia with epilepsy

ORPHA:254881

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

ORPHA:34514

Titin-related limb-girdle muscular dystrophy R10

Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD2J

ORPHA:140922

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

ORPHA:424261

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

ORPHA:369840

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

ORPHA:1878

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

ORPHA:85292

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN

ORPHA:314485