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"

169 matching diseasesClear search ×

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

ORPHA:313772

3-methylglutaconic aciduria type 3

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

ORPHA:67047

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

ORPHA:466794

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

ORPHA:284289

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

ORPHA:255132

Autosomal dominant spastic ataxia

AD-SPAX

ORPHA:316235

Autosomal dominant spastic ataxia type 1

SPAX1

ORPHA:251282

Autosomal dominant spastic paraplegia type 10

SPG10

ORPHA:100991

Autosomal dominant spastic paraplegia type 12

SPG12

ORPHA:100993

Autosomal dominant spastic paraplegia type 13

SPG13

ORPHA:100994

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

ORPHA:100998

Autosomal dominant spastic paraplegia type 19

SPG19

ORPHA:100999

Autosomal dominant spastic paraplegia type 29

SPG29

ORPHA:101009

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

ORPHA:100984

Autosomal dominant spastic paraplegia type 31

SPG31

ORPHA:101011

Autosomal dominant spastic paraplegia type 36

SPG36

ORPHA:320365

Autosomal dominant spastic paraplegia type 37

SPG37

ORPHA:171612

Autosomal dominant spastic paraplegia type 38

SPG38

ORPHA:171617

Autosomal dominant spastic paraplegia type 4

SPG4

ORPHA:100985

Autosomal dominant spastic paraplegia type 41

SPG41

ORPHA:320355

Autosomal dominant spastic paraplegia type 42

SPG42

ORPHA:171863

Autosomal dominant spastic paraplegia type 6

SPG6

ORPHA:100988

Autosomal dominant spastic paraplegia type 73

SPG73

ORPHA:444099

Autosomal dominant spastic paraplegia type 8

SPG8

ORPHA:100989

Autosomal dominant spastic paraplegia type 80

ORPHA:631068

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

ORPHA:447753

Autosomal dominant spastic paraplegia type 9B

AD-SPG9B

ORPHA:447757

Autosomal recessive Alport syndrome

ORPHA:88919

Autosomal recessive amelia

ORPHA:1027

Autosomal recessive ataxia due to PEX10 deficiency

Mild peroxisomal disorder due to PEX10 deficiency

ORPHA:247815

Autosomal recessive ataxia due to PEX16 deficiency

Mild peroxisomal disorder due to PEX16 deficiency

ORPHA:642954

Autosomal recessive ataxia due to PEX2 deficiency

Mild peroxisomal disorder due to PEX2 deficiency

ORPHA:642965

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 brachyolmia

Brachyolmia, Hobaek/Toledo type

ORPHA:448242

Autosomal recessive cerebellar ataxia

ARCA

ORPHA:1172

Autosomal recessive cerebellar ataxia due to a DNA repair defect

ORPHA:98097

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

SCAR17 · Spinocerebellar ataxia autosomal recessive type 17

ORPHA:453521

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

SCAR16 · Spinocerebellar ataxia autosomal recessive type 16

ORPHA:412057

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

ORPHA:352641

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Salih ataxia · Autosomal recessive spinocerebellar ataxia type 15

ORPHA:404499

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

SCAR23 · Spinocerebellar ataxia autosomal recessive type 23

ORPHA:404493

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive spinocerebellar ataxia type 12 · SCAR12

ORPHA:284282

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

ORPHA:284271

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

ORPHA:1170

Autosomal recessive cerebral atrophy

ORPHA:363969

Autosomal recessive Charcot-Marie-Tooth disease type 2X

CMT2X · Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation

ORPHA:466775

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ARCMT2K · Autosomal recessive axonal CMT4C4

ORPHA:101097