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"

70 matching diseasesClear search ×

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

ORPHA:100979

Autosomal dominant ACTN2-related distal myopathy

ORPHA:708133

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 brachyolmia

Brachyolmia type 3

ORPHA:93304

Autosomal dominant centronuclear myopathy

AD-CNM

ORPHA:169189

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

ORPHA:99

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 hypocalcemia

AD hypocalcemia

ORPHA:428

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

ORPHA:89937

Autosomal dominant Kenny-Caffey syndrome

ORPHA:93325

Autosomal dominant keratitis

Hereditary keratitis

ORPHA:2334

Autosomal dominant myoglobinuria

ORPHA:99846

Autosomal dominant myosin storage myopathy

MSMA

ORPHA:636965

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 popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

ORPHA:1300

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

ORPHA:34528

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 secondary polycythemia

Autosomal dominant secondary erythrocytosis

ORPHA:247511

Autosomal dominant severe congenital neutropenia

ORPHA:486

Autosomal dominant slowed nerve conduction velocity

ORPHA:140481

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