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"

44 matching diseasesClear search ×

Multiple system atrophy, cerebellar type

MSA, cerebellar type · MSA-c

ORPHA:227510

Cerebellar ataxia, Cayman type

Cayman ataxia

ORPHA:94122

Cerebellar malformation

ORPHA:182061

Machado-Joseph disease type 2

SCA3, Thomas type · Spinocerebellar ataxia, Thomas type

ORPHA:276241

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

ORPHA:2254

Pontocerebellar hypoplasia type 2

PCH2

ORPHA:2524

Pontocerebellar hypoplasia type 3

Cerebellar atrophy with progressive microcephaly · PCH3

ORPHA:97249

Pontocerebellar hypoplasia type 4

Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia

ORPHA:166063

Pontocerebellar hypoplasia type 5

Fetal-onset olivopontocerebellar hypoplasia · PCH5

ORPHA:166068

Pontocerebellar hypoplasia type 6

Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

ORPHA:166073

Pontocerebellar hypoplasia type 7

PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

ORPHA:284339

Pontocerebellar hypoplasia type 8

PCH8 · Pontocerebellar hypoplasia due to CHMP1A mutation

ORPHA:324569

Pontocerebellar hypoplasia type 9

PCH9

ORPHA:369920

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