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"

106 matching diseasesClear search ×

Autosomal dominant prognathism

ORPHA:2964

Autosomal dominant progressive external ophthalmoplegia

adPEO

ORPHA:254892

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 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 vitreoretinochoroidopathy

ADVIRC

ORPHA:3086

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

ORPHA:300345

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

ORPHA:98975

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

ORPHA:1798

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

ORPHA:1020

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

ORPHA:2790

Epilepsy with auditory features

Autosomal dominant epilepsy with auditory features · EAF

ORPHA:101046

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

ORPHA:86814

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

ORPHA:330041

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

ORPHA:2024

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

ORPHA:411602

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

ORPHA:482077

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

ORPHA:2924

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

ORPHA:67042