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"

132 matching diseasesClear search ×

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

ORPHA:1182

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

ORPHA:53

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

ORPHA:209335

Autosomal dominant Alport syndrome

ORPHA:88918

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant aplastic anemia and myelodysplasia

ORPHA:314399

Autosomal dominant brachyolmia

Brachyolmia type 3

ORPHA:93304

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

ORPHA:99

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

ORPHA:94145

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

ORPHA:208508

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

ORPHA:94148

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

ORPHA:94149

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

ORPHA:64746

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

ORPHA:100979

Autosomal dominant cutis laxa

ADCL

ORPHA:90348

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

ORPHA:140465

Autosomal dominant distal myopathy

ORPHA:206650

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

ORPHA:98808

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

ORPHA:329466

Autosomal dominant hypocalcemia

AD hypocalcemia

ORPHA:428

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

ORPHA:89937

Autosomal dominant keratitis

Hereditary keratitis

ORPHA:2334

Autosomal dominant myoglobinuria

ORPHA:99846

Autosomal dominant omodysplasia

ORPHA:93328

Autosomal dominant optic atrophy

DOA · ADOA

ORPHA:98672

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

ORPHA:67036

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

ORPHA:1215

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

ORPHA:98673

Autosomal dominant osteopetrosis type 1

ORPHA:2783

Autosomal dominant polycystic kidney disease

ADPKD

ORPHA:730

Autosomal dominant prognathism

ORPHA:2964

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

ORPHA:100980

Autosomal dominant Robinow syndrome

ORPHA:3107

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