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"

200 matching diseasesClear search ×

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Bourneville disease · PKDTS

ORPHA:88924

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

ORPHA:1300

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

ORPHA:476119

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

ORPHA:34528

Autosomal dominant primary microcephaly

ORPHA:2514

Autosomal dominant prognathism

ORPHA:2964

Autosomal dominant progressive external ophthalmoplegia

adPEO

ORPHA:254892

Autosomal dominant progressive nephropathy with hypertension

ORPHA:88659

Autosomal dominant proximal renal tubular acidosis

AD pRTA

ORPHA:314889

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:211037

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

ORPHA:100980

Autosomal dominant rhegmatogenous retinal detachment

ORPHA:209867

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

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 dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

ORPHA:1797

Autosomal dominant striatal neurodegeneration

ADSD

ORPHA:228169

Autosomal dominant thrombocytopenia with platelet secretion defect

ORPHA:466806

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

ORPHA:34149

Autosomal dominant vitreoretinochoroidopathy

ADVIRC

ORPHA:3086

Autosomal erythropoietic protoporphyria

EPP

ORPHA:79278

Autosomal ichthyosis syndrome

ORPHA:281217

Autosomal ichthyosis syndrome with fatal disease course

ORPHA:281241

Autosomal ichthyosis syndrome with other associated signs

ORPHA:281244

Autosomal ichthyosis syndrome with prominent hair abnormalities

ORPHA:281222