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"

198 matching diseasesClear search ×

Non-specific autoimmune cerebellar ataxia without characteristic antibodies

Non-specific autoimmune CA without characteristic antibodies · Primary Autoimmune Cerebellar Ataxia

ORPHA:624268

OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

OBSOLETE: Autosomal recessive LGMD with cerebellar involvement

ORPHA:352482

OBSOLETE: Autosomal recessive optic atrophy, OPA6 type

ORPHA:99012

OBSOLETE: Autosomal recessive optic atrophy, OPA9 type

ORPHA:441344

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

ORPHA:178389

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

ORPHA:254361

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

ORPHA:480682

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

ORPHA:206564

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

ORPHA:86812

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N

ORPHA:206559

Postinfectious cerebellitis

PIC · Para-infectious cerebellitis

ORPHA:624244

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

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